Genomes and Genes
immunologic deficiency syndromes
Summary: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Articles from Journal RESEARCH
Articles from Journal RESEARCH1
Publications275 found, 100 shown here
- Memory switched B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiencyHana Alachkar
Department of Immunology, Hope Hospital, Manchester, UK
Clin Immunol 120:310-8. 2006....
- DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian developmentM Okano
Cardiovascular Research Center, Massachusetts General Hospital, Department of Medicine, Harvard Medical School, Charlestown 02129, USA
Cell 99:247-57. 1999..Our results indicate that both Dnmt3a and Dnmt3b function as de novo methyltransferases that play important roles in normal development and disease...
- Primary immunodeficienciesLuigi D Notarangelo
Division of Immunology and Manton Center for Orphan Disease Research, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
J Allergy Clin Immunol 125:S182-94. 2010..In this review we will discuss the pathogenesis, diagnosis, and treatment of PIDs, with special attention to recent advances in the field...
- Efficacy and safety of Hizentra(®) in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapyS Jolles
University Hospital of Wales, Cardiff, UK
Clin Immunol 141:90-102. 2011..Individual median infusion durations ranged between 1.14 and 1.27 h. Hizentra(®) maintained or improved serum IgG levels without dose increases and effectively protected patients against infections...
- Pharmacokinetics of subcutaneous immunoglobulin and their use in dosing of replacement therapy in patients with primary immunodeficienciesMelvin Berger
Immunology Research and Development, CSL Behring, King of Prussia, PA 19406 0901, USA
Clin Immunol 139:133-41. 2011..When switching a patient from IVIG to SCIG, individualizing the dosage based on measured serum IgG levels and the clinical response is preferable to using mean pharmacokinetic parameters...
- Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. A randomized double-blind trialChaim M Roifman
Division of Immunology Allergy, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8
Int Immunopharmacol 3:1325-33. 2003..No evidence of viral transmission was observed. IGIV-C appears to be superior to IGIV-SD in preventing validated sinopulmonary infections, especially acute sinusitis, in patients with PID...
- DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiencyM O'Driscoll
Genome Damage and Stability Unit, University of Sussex, Brighton, East Sussex, BN1 9RR, United Kingdom
Mol Cell 8:1175-85. 2001..An unexpected V(D)J recombination phenotype is observed involving a small decrease in rejoining frequency coupled with elevated imprecision at signal junctions...
- The CXCR4 antagonist plerixafor corrects panleukopenia in patients with WHIM syndromeDavid H McDermott
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Blood 118:4957-62. 2011..This study is registered at http://www.clinicaltrials.gov as NCT00967785...
- WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12Karl Balabanian
Unite d Immunologie Virale, Institut Pasteur, 75724 Paris, France
Blood 105:2449-57. 2005..We propose that the sustained CXCR4 activity in patient cells accounts for the immune-hematologic clinical manifestations and the profusion of warts characteristic of the WHIM syndrome...
- Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studiesJordan S Orange
Division of Allergy and Immunology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Clin Immunol 137:21-30. 2010..113 cases per patient-year) was 5-fold that with 1000 mg/dL (0.023 cases per patient-year). This meta-analysis provides evidence that pneumonia risk can be progressively reduced by higher trough IgG levels up to at least 1000 mg/dL...
- Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency diseasePaolo A Hernandez
Department of Human Genetics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
Nat Genet 34:70-4. 2003....
- Regulation of CXCR4 signalingJohn M Busillo
Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
Biochim Biophys Acta 1768:952-63. 2007..Herein we review what is currently known regarding the regulation of CXCR4 and how dysregulation contributes to disease progression...
- Primary immunodeficiencies: 2009 updateLuigi D Notarangelo
Division of Immunology, Children s Hospital Boston and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
J Allergy Clin Immunol 124:1161-78. 2009..Careful analysis and prompt recognition of these disorders is essential to prompt effective forms of treatment and thus to improve survival and quality of life in patients affected with PIDs...
- Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va geneE Pastural
Unité de Recherches sur le Dévelopement Normal et Pathologique de Systéme Immunitaire INSERM U429 Paris, France
Nat Genet 16:289-92. 1997..Griscelli disease is therefore a human equivalent of dilute expression in the mouse...
- The use of immunoglobulin therapy for patients with primary immune deficiency: an evidence-based practice guidelineNadine Shehata
Department of Medicine, University of Toronto, Canadian Blood Services, St Michael s Hospital, 30 Bond Street, Toronto, Ontario, Canada
Transfus Med Rev 24:S28-50. 2010....
- Safety and efficacy of Privigen, a novel 10% liquid immunoglobulin preparation for intravenous use, in patients with primary immunodeficienciesMark R Stein
Allergy Associates of the Palm Beaches, 840 US Highway 1, Suite 235, North Palm Beach, FL 33408, USA
J Clin Immunol 29:137-44. 2009..The present study was designed to evaluate the efficacy and safety of a novel, 10% liquid formulation of intravenous immunoglobulin, stabilized with 250 mmol/L L-proline (Privigen), in patients with primary immunodeficiency disease...
- The European internet-based patient and research database for primary immunodeficiencies: update 2011B Gathmann
Centre of Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Freiburg, Germany
Clin Exp Immunol 167:479-91. 2012..We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement...
- Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiencyMelissa C Mizesko
Baylor College of Medicine, Houston, TX 77030 2399, USA
J Allergy Clin Immunol 131:840-8. 2013..Although abnormalities in T- and B-cell function have been described in DOCK8-deficient patients, the role of NK cells in this disease is unclear...
- Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndromeYoshihide Ueda
Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
Development 133:1183-92. 2006..These mutant mice will be useful for further elucidation of the pathogenic and molecular mechanisms underlying ICF syndrome...
- Two genes are responsible for Griscelli syndrome at the same 15q21 locusE Pastural
Unite de Recherches sur le Developpement Normal et Pathologique du Systeme Immunitaire, INSERM U429, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris Cedex 15, 75743, France
Genomics 63:299-306. 2000..However, fine haplotype analysis in three families strongly suggests the existence of a second gene at the same locus for Griscelli syndrome less than 7.3 cM distant from the MyoVa gene...
- A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14Georg Bohn
Department of Pediatric Hematology Oncology Carl Hannover Medical School, Carl Neuberg Strasse 1 D 30625 Hannover, Germany
Nat Med 13:38-45. 2007..These findings have implications for understanding endosomal membrane dynamics, compartmentalization of cell signal cascades, and their role in immunity...
- Gene therapy for primary immunodeficiencies: Part 1Marina Cavazzana-Calvo
U768 INSERM, Paris, France
Curr Opin Immunol 24:580-4. 2012..Here we will present the experience and perspectives of gene therapy for SCID-X1 and ADA-SCID and discuss the pros and cons of gene therapy in comparison to allogeneic transplantation...
- Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous
Inserm U768, Paris, France
J Allergy Clin Immunol 131:1594-603. 2013..We evaluated 3 siblings from a consanguineous family presenting with EBV-associated B-cell lymphoproliferation at an early age (12, 7½, and 14 months, respectively) and profound naive T-cell lymphopenia...
- Gene therapy for primary immunodeficiencies: Part 2Alessandro Aiuti
San Raffaele Telethon Institute for Gene Therapy HSR TIGET, Division of Regenerative Medicine, San Raffaele Scientific Institute, Milan, Italy
Curr Opin Immunol 24:585-91. 2012..In this review we present the status of gene therapy for WAS and CGD, and discuss the emerging application of similar strategies to a broader range of PIDs, such as IPEX syndrome...
- Gene therapy for primary immunodeficienciesChristine Rivat
UCL Institute of Child Health, Centre for Immunodeficiency, London WCIN 1EH, United Kingdom
Hum Gene Ther 23:668-75. 2012..In this review we summarize the status of these gene therapy trials and discuss the emerging application of similar strategies to other PIDs...
- The outcome of patients with unclassified hypogammaglobulinemia in early childhoodNecil Kutukculer
Division of Pediatric Immunology, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
Pediatr Allergy Immunol 20:693-8. 2009..Some children may spontaneously correct their immunoglobulin abnormalities not in the first 30 months of age, but during the first decade of life and some of them may have a severe PID like CVID...
- Loss of tolerance and autoimmunity affecting multiple organs in STAT5A/5B-deficient miceJonathan W Snow
Gladstone Institute of Virology and Immunology, and Department of Microbiology and Immunology, University of California, San Francisco, CA 94114, USA
J Immunol 171:5042-50. 2003..These data provide strong evidence for a requirement for STAT5 in the maintenance of tolerance in vivo...
- Efficacy and safety of hizentra®, a new 20% immunoglobulin preparation for subcutaneous administration, in pediatric patients with primary immunodeficiencyMichael Borte
Hospital St Georg GmbH Leipzig, Academic Teaching Hospital of the University of Leipzig, Delitzscher Strasse 141, 04129, Leipzig, Germany
J Clin Immunol 31:752-61. 2011..9%) and two adolescents (40%). Three serious AEs and two AEs leading to discontinuation (all unrelated) were reported in children. Hizentra(®) is an effective and well-tolerated treatment for pediatric patients...
- Pharmacokinetics and safety of subcutaneous immune globulin (human), 10% caprylate/chromatography purified in patients with primary immunodeficiency diseaseR L Wasserman
DallasAllergyImmunology, Dallas, TX 75230, USA
Clin Exp Immunol 161:518-26. 2010....
- Use of intravenous immunoglobulin and adjunctive therapies in the treatment of primary immunodeficiencies: A working group report of and study by the Primary Immunodeficiency Committee of the American Academy of Allergy Asthma and ImmunologyPierre L Yong
Robert Wood Johnson Clinical Scholars Program, University of Pennsylvania, Philadelphia, PA, USA
Clin Immunol 135:255-63. 2010..Thus, a need for expanded clinical research in PIDD to optimize management and potentially improve outcomes was defined...
- Improved quality of life, immunoglobulin G levels, and infection rates in patients with primary immunodeficiency diseases during self-treatment with subcutaneous immunoglobulin GMelvin Berger
Medical Affairs Department CSL Behring, King of Prussia, PA, USA
South Med J 103:856-63. 2010..We evaluated the long-term (12-month) experience with home-based self infusions of subcutaneous immune globulin (SCIG) in patients with PIDD on health-related QoL, rates of serious bacterial infections, and all other infections...
- Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficienciesItai M Pessach
Division of Immunology, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
J Allergy Clin Immunol 127:1400-7.e4. 2011..The novel ability to epigenetically reprogram somatic cells into induced pluripotent stem cells (iPSCs) through the exogenous expression of transcription promises to revolutionize the study of human diseases...
- Efficacy, pharmacokinetics, safety, and tolerability of Flebogamma 10% DIF, a high-purity human intravenous immunoglobulin, in primary immunodeficiencyMelvin Berger
Case Western Reserve University, Cleveland, OH, USA
J Clin Immunol 30:321-9. 2010..Pathogen safety is enhanced by the combination of multiple methods with different mechanisms of action...
- Increased mortality in cartilage-hair hypoplasiaO Makitie
Hospital for Children and Adolescents, Helsinki University Hospital
Arch Dis Child 84:65-67. 2001..Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality...
- Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and ImmunologyJordan S Orange
Department of Pediatrics, University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, Philadelphia 19104, USA
J Allergy Clin Immunol 117:S525-53. 2006..Given the potential risks and inherent scarcity of IGIV, careful consideration of the indications for and administration of IGIV is warranted...
- Pathogenesis, diagnosis, and management of primary antibody deficiencies and infectionsAri J Fried
Division of Immunology, Children s Hospital Boston, Fegan Building, 6th Floor, 300 Longwood Avenue, Boston, MA 02115, USA
Clin Microbiol Rev 22:396-414. 2009....
- Infections and immunodeficiency in Down syndromeG Ram
Allergy and Immunology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital Houston, Houston, TX, USA
Clin Exp Immunol 164:9-16. 2011..Addressing immunological and non-immunological factors involved in the pathogenesis of infectious diseases may reduce the susceptibility to infections in DS subjects...
- The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndromeA Aruffo
Bristol Myers Squibb, Pharmaceutical Research Institute, Seattle, Washington 98121
Cell 72:291-300. 1993..The gene encoding gp39 was mapped to Xq26, the X chromosome region where the gene responsible for HIM had previously been mapped. These data suggest that a defect in gp39 is the basis of X-linked HIM...
- Depletion of CD4+ T cells in major histocompatibility complex class II-deficient miceM J Grusby
Department of Cancer Biology, Harvard School of Public Health, Boston, MA
Science 253:1417-20. 1991..These results provide genetic evidence that class II molecules are required for the maturation and function of mature CD4+ T cells...
- Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase geneG L Xu
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York 10032, USA
Nature 402:187-91. 1999..Cytosine methylation is essential for the organization and stabilization of a specific type of heterochromatin, and this methylation appears to be carried out by an enzyme specialized for the purpose...
- Primary immunodeficiencies of protective immunity to primary infectionsAziz Bousfiha
Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, Morocco
Clin Immunol 135:204-9. 2010..They provide proof-of-principle that infectious diseases of childhood striking only once may result from single-gene inborn errors of immunity...
- Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severityEleonora Gambineri
Department of Pediatrics, Anna Meyer University Children s Hospital, University of Florence, Florence, Italy
J Allergy Clin Immunol 122:1105-1112.e1. 2008..Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead box protein 3 gene (FOXP3), a key regulator of immune tolerance...
- Leukocyte analysis from WHIM syndrome patients reveals a pivotal role for GRK3 in CXCR4 signalingKarl Balabanian
INSERM U819, Paris, France
J Clin Invest 118:1074-84. 2008..Taken together, these results have revealed a pivotal role for GRK3 in regulating CXCR4 attenuation and have provided a mechanistic link between the GRK3 pathway and the CXCR4-related WHIM(WT) disorder...
- Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and menLisa S Westerberg
Gastrointestinal Unit and the Center for the Study of Inflammatory Bowel Diseases, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
Curr Opin Immunol 20:646-54. 2008..Finally, findings from PID have broadened our understanding of how homeostatic proliferation and increased load or decreased clearance of apoptotic cells and non-self pathogens can lead to breakdown of peripheral tolerance...
- Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at homeUwe Nicolay
Section of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Stockholm, Sweden
J Clin Immunol 26:65-72. 2006..Treatment satisfaction was significantly improved in Group A. The preference for the subcutaneous route and for home therapy was respectively 81% and 90% in Group A. In Group B, 69% preferred the subcutaneous route and 92% home therapy...
- CD40 ligand gene defects responsible for X-linked hyper-IgM syndromeR C Allen
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030
Science 259:990-3. 1993..Thus, these CD40L defects lead to a T cell abnormality that results in the failure of patient B cells to undergo immunoglobulin class switching...
- Genetic dissection of immunity to mycobacteria: the human modelJean Laurent Casanova
Laboratory of Human Genetics of Infectious Diseases, Université René Descartes INSERM U550, Necker Medical School, 156 rue de Vaugirard, 75015 Paris, France
Annu Rev Immunol 20:581-620. 2002..The human model has potential uses beyond the study of mycobacterial infections and may well become a model of choice for the investigation of immunity to infectious agents...
- Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cellsQian Tao
Tumor Virology Laboratory, Johns Hopkins Singapore, Level 5 Clinical Research Center MD11, NUS, 10 Medical Drive, Singapore 117597
Hum Mol Genet 11:2091-102. 2002..Lastly, no consistent changes in the protein levels of the DNA methyltransferases were noted when normal and ICF cell lines were compared...
- Phase I safety, tolerability, and pharmacokinetic study of recombinant human mannan-binding lectinKenneth Ahrend Petersen
NatImmune A S, Fruebjergvej 3, Box 3 DK 2100, Copenhagen, Denmark
J Clin Immunol 26:465-75. 2006..In conclusion, no safety or tolerability concern was raised following rhMBL administration no signs of immunogenicity detected, and an rhMBL plasma level judged sufficient to achieve therapeutic benefit (>1000 ng/mL) can be achieved...
- Human immunodeficiencies that predispose to intracellular bacterial infectionsRainer Doffinger
Department of Clinical Biochemistry and Immunology, Cambridge, United Kingdom
Curr Opin Rheumatol 17:440-6. 2005..This review addresses the effects of inherited and acquired immunodeficiencies on the susceptibility to the development of intracellular bacterial infections...
- Primary immunodeficiency modeling with induced pluripotent stem cellsItai M Pessach
Department of Pediatric Critical Care, Edmond and Lily Safra Children s Hospital, Sheba Medical Center, Tel Hashomer, Israel
Curr Opin Allergy Clin Immunol 11:505-11. 2011..Here, we focus on a novel approach based on the use of patient-derived induced pluripotent stem cells (iPSCs) that may overcome some of the inherent limitations of the classical approaches to the study of PIDs...
- Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicityElena Sieni
Dipartimento Oncoematologia Pediatrica e Cure Domiciliari, Azienda Ospedaliero Universitaria Meyer, Viale Pieraccini, 24, 50139 Florence, Italy
Cell Mol Life Sci 69:29-40. 2012....
- Gene therapy for primary immunodeficienciesEric Kildebeck
Department of Pediatrics, Stanford University School of Medicine, California 94305, USA
Curr Opin Pediatr 24:731-8. 2012..In this review, we discuss recent advances in gene therapy with an emphasis on strategies to improve safety, including the emergence of gene targeting technologies for the treatment of PIDs...
- DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memoryTeresa Lambe
Nuffield Department of Medicine, Henry Wellcome Building of Molecular Physiology, Oxford University, Oxford, UK
Eur J Immunol 41:3423-35. 2011..These findings help to explain why DOCK8-deficient patients are susceptible to recurrent infections and provide new insights into how T-cell memory is sustained...
- Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A geneJoao C S Bizario
Departamentos de Biologia Celular, Molecular e Bioagentes Patogênicos, Av Bandeirantes 3900, 14049 900 Ribeirao Preto Sao Paulo, Brazil
J Clin Immunol 24:397-410. 2004....
- Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2Jessica C de Greef
Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Am J Hum Genet 88:796-804. 2011....
- Clinical features that identify children with primary immunodeficiency diseasesAnbezhil Subbarayan
Department of Paediatric Allergy and Immunology, Royal Manchester Children s Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, United Kingdom
Pediatrics 127:810-6. 2011..However, the ability of these warning signs to identify children with PID has not been rigorously tested...
- Primary immunodeficiency diseases: a practical guide for cliniciansS E Turvey
Department of Paediatrics, BC Children s Hospital and Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
Postgrad Med J 85:660-6. 2009....
- Specific antibody deficiency in children with chronic wet coughMichael Teik Chung Lim
Department of Paediatrics, University Hospitals of Leicester, Leicester, UK
Arch Dis Child 97:478-80. 2012..029). The authors conclude that SAD is present in a significant number of children with chronic wet cough. The clinical significance and long-term outcome of SAD warrant further investigation in prospective studies...
- The CXCR4 antagonist plerixafor is a potential therapy for myelokathexis, WHIM syndromeDavid C Dale
Department of Medicine, University of Washington, Seattle, WA, USA
Blood 118:4963-6. 2011..08 mg/kg dose. None of the patients experienced any significant adverse effects. Plerixafor is a promising therapy for this condition...
- Practice parameter for the diagnosis and management of primary immunodeficiencyFrancisco A Bonilla
Department of Medicine, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
Ann Allergy Asthma Immunol 94:S1-63. 2005
- Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutationD R Ambruso
Bonfils Blood Center, Denver, CO 80220, USA
Proc Natl Acad Sci U S A 97:4654-9. 2000..These data represent the description of an inhibitory mutation in a member of the Rho family of GTPases associated with a human immunodeficiency syndrome...
- Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiencyNinette Amariglio
Cancer Research Center, Safra Children s Hospital, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel
Pediatr Res 67:211-6. 2010..Assessment of thymus capabilities by TRECs and TCR repertoire analyses is helpful in diagnosing patients with T-cell immunodeficiency and should be part of the evaluation of every patient suspected of having that condition...
- Octagam 5%, an intravenous IgG product, is efficacious and well tolerated in subjects with primary immunodeficiency diseasesHans D Ochs
University of Washington, Seattle, Washington, USA
J Clin Immunol 24:309-14. 2004..In addition, Octagam had a T (1/2) (IgG) comparable with published data, and was well tolerated. Octagam treatment is safe and resulted in 0.1 serious infections/subject/year in primary immunodeficient subjects...
- Pharmacokinetics and tolerability of a new intravenous immunoglobulin preparation, IGIV-C, 10% (Gamunex, 10%)M Ballow
Division of Allergy Immunology and Pediatric Rheumatologym Kaleida Hralth at The Children s Hospital of Buffalo SUNY Buffalo, Department of Pediatrics, Buffalo, New York 14222, USA
Vox Sang 84:202-10. 2003....
- WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4Toshinao Kawai
Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases NIAID, National Institutes of Health NIH, Bldg 10 CRC 5 West Labs, Rm 5 3750, 10 Center Dr MSC 1456, Bethesda, MD 20892 1456, USA
Blood 109:78-84. 2007..We conclude that increased apoptosis of mature myeloid cells in WHIM is secondary to a failure of marrow release and progression to normal myeloid cell senescence, and not a direct effect of activation of mutated CXCR4...
- European surveillance of immunoglobulin safety--results of initial survey of 1243 patients with primary immunodeficiencies in 16 countriesIsabella Quinti
Department of Clinical Immunology, University of Rome La Sapienza, Viale dell Universita 37, 00185, Rome, Italy
Clin Immunol 104:231-6. 2002..Ten percent of patients spontaneously cleared the virus, and about 30% are asymptomatic. Patients with CVID have a worse prognosis than patients with XLA...
- WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4Qian Liu
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Blood 120:181-9. 2012..Therefore, in addition to truncating mutations in the C-terminal domain of CXCR4, WHIM syndrome may be caused by a single charge-changing amino acid substitution in this domain, E343K, that results in increased receptor signaling...
- Primary immunodeficiencies of the B lymphocyteAna Moise
Transplant Immunology Department, Carol Davila University of Medicine and Farmacy, Bucharest, Romania
J Med Life 3:60-3. 2010..Treatment consists of monthly antibiotics and immunoglobulins, depending on antibody titers (except for IgA deficiency)...
- Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndromeF Barzaghi
San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Via Olgettina 58, 20131 Milan, Italy
J Autoimmun 38:49-58. 2012..Since Treg cell suppressive function was not impaired, we propose that this reduction per se could sustain autoimmunity...
- A multicenter, prospective, open label, historically controlled clinical trial to evaluate efficacy and safety in primary immunodeficiency diseases (PID) patients of Flebogamma 5% DIF, the next generation of FlebogammaMelvin Berger
Case Western Reserve University, Cleveland, OH, USA
J Clin Immunol 27:628-33. 2007..Flebogamma 5% dual inactivation and filtration (DIF) is the next generation of Flebogamma. Flebogamma was first licensed in 1992. The new preparation features additional viral inactivation and removal steps to enhance safety margins...
- Subcutaneous immunoglobulin therapy by rapid push is preferred to infusion by pump: a retrospective analysisRalph Shapiro
Midwest Immunology Clinic, Plymouth, MN 55446 3399, USA
J Clin Immunol 30:301-7. 2010..Rapid push administration has been an option at the author's clinic for several years. We report experience with a cohort of patients given a choice between rapid push and standard pump administration...
- Health-related quality of life in primary antibody deficiencyAsghar Aghamohammadi
Research Center for Immunodeficiency, Pediatrics Center of Excellence, Children s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Iran J Allergy Asthma Immunol 10:47-51. 2011..However, the patients with severe phenotypes and long delay in diagnosis showed lower QoL, even in medical management...
- Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year periodWen I Lee
Graduate Institute of Clinical Medical Sciences, Chang Gung University, Chang Gung Children s Hospital, Taoyuan, Taiwan
J Clin Immunol 25:162-73. 2005..Six novel mutations were found from 11 agreed patients. This is the first report on primary immunodeficiencies in Taiwan covering a 20-year period...
- Primary immunodeficiencies associated with pneumococcal diseaseCapucine Picard
Pediatric Immunology Hematology Unit, Necker Enfants Malades Hospital, University of Paris Rene Descartes, Paris, France, EU
Curr Opin Allergy Clin Immunol 3:451-9. 2003..We thus reviewed the medical literature on cases of S. pneumoniae infection in patients with primary immunodeficiency diseases, with a particular emphasis on invasive pneumococcal disease...
- Efficacy and safety of home-based subcutaneous immunoglobulin replacement therapy in paediatric patients with primary immunodeficienciesM Borte
Municipal Hospital St Georg Leipzig, Academic Teaching Hospital of the University of Leipzig, Germany
Clin Exp Immunol 164:357-64. 2011..The adverse event profile was comparable to previous reports in adults. Both studies confirmed the efficacy and safety of subcutaneous immunoglobulin therapy with Vivaglobin in children with primary immunodeficiencies...
- Efficacy, safety and tolerability of a new 10% liquid intravenous immune globulin [IGIV 10%] in patients with primary immunodeficiencyJoseph A Church
Childrens Hospital Los Angeles, Los Angeles, California, USA
J Clin Immunol 26:388-95. 2006..9% of infusions. The study met the primary endpoint for efficacy and demonstrated excellent tolerability of the new 10% liquid intravenous imunoglobulin preparation...
- Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrumChristian T Thiel
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen Nuremberg, Erlangen, Germany
Am J Hum Genet 81:519-29. 2007....
- Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP geneT Holtschke
Institute of Virology and Immunobiology, University of Wurzburg, Federal Republic of Germany
Cell 87:307-17. 1996..These results suggest a novel role for ICSBP in regulating the proliferation and differentiation of hematopoietic progenitor cells...
- Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID miceD J Rawlings
Department of Microbiology and Molecular Genetics, University of California, Los Angeles 90024
Science 261:358-61. 1993..A single conserved residue within the amino terminal unique region of Btk was mutated in XID mice. This change in xid probably interferes with normal B cell signaling mediated by Btk protein interactions...
- Impaired recruitment of Grk6 and beta-Arrestin 2 causes delayed internalization and desensitization of a WHIM syndrome-associated CXCR4 mutant receptorPeter J McCormick
The Laboratory of Cellular Oncology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS ONE 4:e8102. 2009..Since beta-Arrestins and Grks play critical roles in phosphorylation and internalization of agonist-activated G protein-coupled receptors, these results provide a molecular basis for CXCR4 dysfunction in WHIM syndrome...
- A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiencyGilles Courtois
Unité de Biologie Moléculaire de l Expression Génique, Centre National de la Recherche Scientifique URA 2582, Institut Pasteur, Paris, France
J Clin Invest 112:1108-15. 2003..Our report highlights both the diversity of genotypes associated with EDA-ID and the diversity of immunologic phenotypes associated with mutations in different components of the NF-kappaB signaling pathway...
- Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)P Revy
INSERM U429, Hopital Necker Enfants Malades, Paris, France
Cell 102:565-75. 2000..The phenotype observed in HIGM2 patients (and in AID-/- mice) demonstrates the absolute requirement for AID in several crucial steps of B cell terminal differentiation necessary for efficient antibody responses...
- The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008B Gathmann
Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Freiburg, Germany
Clin Exp Immunol 157:3-11. 2009..72 patients per 100,000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment...
- AIRE deficiency in thymus of 2 patients with Omenn syndromePatrizia Cavadini
1Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, University of Brescia, Brescia, Italy
J Clin Invest 115:728-32. 2005....
- Primary immunodeficiency diseases in Egyptian children: a single-center studyShereen M Reda
Department of Pediatric Allergy and Immunology, Children s Hospital, Faculty of Medicine, Ain Shams University, 110 El Merghany Street, Heliopolis, Cairo 11341, Egypt
J Clin Immunol 29:343-51. 2009..Sixty-four primary immunodeficiency patients were registered at the Pediatric Allergy and Immunology Department, Children's Hospital, Ain Shams University, Cairo, Egypt...
- Multiple defects in innate and adaptive immunologic function in NOD/LtSz-scid miceL D Shultz
Jackson Laboratory, Bar Harbor, ME 04609
J Immunol 154:180-91. 1995..B-17/Sz-scid/scid animals. The multiple defects in innate and adaptive immunity unique to the NOD/LtSz-scid/scid mouse provide an excellent in vivo environment for reconstitution with human hematopoietic cells...
- An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viabilityIlja Demuth
Institut fur Humangenetik, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Hum Mol Genet 13:2385-97. 2004..This demonstrates, for the first time, that the common human mutation is hypomorphic and that the expression of a truncated protein is sufficient to restore nibrin's vital cellular functions...
- Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunityYoshiyuki Minegishi
Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Yushima, Tokyo, Japan
Immunity 25:745-55. 2006..This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice...
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Nat Genet 30:215-20. 2002..These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease...
- Population prevalence of diagnosed primary immunodeficiency diseases in the United StatesJ M Boyle
SRBI, Silver Spring, MD, USA
J Clin Immunol 27:497-502. 2007..Accurate prevalence measures are needed to separate the truly rare condition from those that primary care doctors are likely to see in their practices today, if early diagnosis and treatment are to be achieved...
- Primary antibody deficiency and diagnostic delayB Seymour
Department of Immunology, Clinical Sciences Building, Hope Hospital, Stott Lane, Salford M6 8HD, UK
J Clin Pathol 58:546-7. 2005..To assess the occurrence of diagnostic delay in primary antibody deficiency in the period 1989-2002, since a similar study in 1989, and to assess the impact of UK national guidelines communicated in 1995...
- Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndromeSole Gatto
Institute of Genetics and Biophysics A B T, CNR, Naples, Italy
Epigenetics 5:427-43. 2010..These results provide a better understanding of how DNA methylation and histone code interact to regulate the class of microRNA genes and enable us to predict molecular events possibly contributing to ICF condition...
- DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune functionBilian Jin
Department of Biochemistry and Molecular Biology, UF Shands Cancer Center Program in Cancer Genetics, Epigenetics, and Tumor Virology, University of Florida, PO Box 100245, Gainesville, FL 32610, USA
Hum Mol Genet 17:690-709. 2008..Therefore, this study provides important new insights into the role of DNMT3B in modulating gene expression and chromatin structure and reveals new connections between DNMT3B and polycomb-mediated repression...
- Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiencyY Gu
Howard Hughes Medical Institute and the Herman B Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
J Biol Chem 276:15929-38. 2001....
- Nijmegen breakage syndrome diagnosed as Fanconi anaemiaHelen V New
Department of Haematology and Oncology, Great Ormond Street Children s Hospital, London, United Kingdom
Pediatr Blood Cancer 44:494-9. 2005..It has recently been shown that, like FA, NBS is also associated with increased chromosomal sensitivity to DNA cross-linking agents...
- Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndromeL Dotta
Department of Pediatrics, Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Italy
Curr Mol Med 11:317-25. 2011..A new therapeutic strategy might include the potent inhibitor of CXCR4 function plerixafor (Mozobil), as an agent specifically targeting the molecular defect in order to attenuate the phenotypic manifestations of the syndrome...
- Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologistsE de Vries
Department of Paediatrics, Jeroen Bosch Hospital loc GZG, 5200 ME s Hertogenbosch, The Netherlands
Clin Exp Immunol 145:204-14. 2006..The protocols presented here are therefore aimed at both adult physicians and paediatricians. While designed for use throughout Europe, there will be national differences which may make modification of this generic algorithm necessary...
- Tolerance and autoimmunity: lessons at the bedside of primary immunodeficienciesMagda Carneiro-Sampaio
Department of Pediatrics, Children s Hospital, Faculdade de Medicina da Universidade de Sao Paulo, Brazil
Adv Immunol 95:51-82. 2007..e., in regulatory mechanisms), rather than from excessive reactivity...
- HARP is an ATP-driven annealing helicaseTimur Yusufzai
Section of Molecular Biology, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
Science 322:748-50. 2008..Moreover, the pleiotropy of HARP mutations is consistent with the function of HARP as an annealing helicase that acts throughout the genome to oppose the action of DNA-unwinding activities in the nucleus...
- Juvenile rheumatoid arthritis-like polyarthritis in Nijmegen breakage syndromeS D Rosenzweig
Servicio de Inmunologia, Hospital Nacional de Pediatria J P Garrahan, Buenos Aires, Argentina
J Rheumatol 28:2548-50. 2001..To our knowledge this is the first report of a patient with the NBS who presented with a symmetric chronic polyarthritis resembling JRA...
- FSHD Syndrome: DNA Repeats, Methylation, & ChromatinMelanie Ehrlich; Fiscal Year: 2003..The proposed research should help elucidate the molecular etiology of the enigmatic FSHD syndrome. ..
- FSHD: Chromatin Structure, Looping, & ExpressionMelanie Ehrlich; Fiscal Year: 2009..The proposed research should elucidate new aspects of long-distance control of gene expression as well as lending clinically useful insights into this currently intractable disease. ..
- Primary Immune Deficiency Consortium ConferenceCharlotte Cunningham Rundles; Fiscal Year: 2008..Principle topics will focus on: Diagnosis of Immunodeficiency; Genetics, Immune Reconstruction, and the Use of Standard and Novel Therapies. ..
- Primary Immunne Deficiency Consortium ConferenceCharlotte Cunningham Rundles; Fiscal Year: 2005..Principle topics will focus on: Antibody Deficiency; Combined Immune Defects; Neutrophil Disorders; Laboratory Evaluation of Primary Immunodeficiency; Immune Reconstiution, and the Use of Standard and Novel Therapies. ..
- 2003 CIS Summer SchoolCharlotte Cunningham Rundles; Fiscal Year: 2003..The participants will be drawn from training programs, hospitals and institutions that are in North, Central or South America. Only fellows from the United States will receive funding made possible through the NIH grant. ..
- MECHANISMS OF IL-2 IMMUNE ENHANCEMENT IN HUMANSCharlotte Cunningham Rundles; Fiscal Year: 2001..Thus, this application will focus on the cellular and molecular mechanisms by which IL-2 reconstitutes T cell immunity in this model system. ..
- 2002 Summer School in Primary Immunodeficiency DisordersCharlotte Cunningham Rundles; Fiscal Year: 2002..Fellows participating in the course will be reimbursed for their travel expenses. No registration fee will be charged for the fellows participating in the program. ..
- TNF-Induced Apoptosis of Lymphocytes in Aged HumansSudhir Gupta; Fiscal Year: 2004..These studied should mechanism (s) for increased TNF-a-induced apoptosis during aging. ..
- DOSAGE COMPENSATION IN MAMMALS: X-INACTIVATIONSTANLEY GARTLER; Fiscal Year: 2004..Such border shifting may have evolutionary implications for genome organization. We propose an extensive test of this model. ..
- Immune Complex Stimulation of TNFalphaKathleen Sullivan; Fiscal Year: 2007..In the third aim, we will define the role of chromatin in the regulation of responses to immune complexes. ..
- TNF Alpha In InflammationKathleen Sullivan; Fiscal Year: 2008..Overall, this proposal will define the mechanisms underlying repression of the TNF alpha locus. [unreadable] [unreadable]..
- IMMUNE RESPONSES TO PNEUMOCOCCAL ANTIGENS IN CHILDRENLisa Kobrynski; Fiscal Year: 2003..In addition, the applicant will pursue further training in study design and research methods, including didactic courses at the Rollins School of Public Health and the Graduate Division of Biological and Biomedical Sciences, at Emory. ..
- A LYMPHOBLAST MODEL FOR DISEASES OF PURINE METABOLISMMichael Hershfield; Fiscal Year: 2006..abstract_text> ..
- Molecular Determinants of Virulence Porcine Circovirus 2Steven Krakowka; Fiscal Year: 2007..Collectively, these data will provide critical insight into pathogenic mechanisms of disease mediated by mammalian circoviruses and will provide key guidance for the future study of human circovirus pathogens. ..
- IMPROVED ADENOVIRAL VECTORS FOR HEPATIC GENE THERAPYMark Kay; Fiscal Year: 2006..Taken together, these studies will advance our basic understanding of vector-host interactions related to persistence of vector in rive, as well as advancing therapeutic applications in preclinical development. ..
- FUNCTION OF NORMAL AND MALIGNANT PHAGOCYTESSERGIO CATZ; Fiscal Year: 2007..Further study will be carried out on the possibility that p67PHOX carries NADPH to the electron transport chain. Finally, X-ray crystallography of the oxidase components will be done. ..
- Fetal Stromal Progenitor CellsAlan Flake; Fiscal Year: 2006..abstract_text> ..
- Strategies for prenatal stem cell transplantationAlan W Flake; Fiscal Year: 2010..The ultimate goal of these studies is to develop safe and effective strategies that can be translated to the in utero treatment of a broad range of human genetic hematologic disorders including Sickle Cell Disease and Thalassemia. ..
- Eosinophil Granule Proteins and Their FunctionsGerald Gleich; Fiscal Year: 2006..Overall, these studies will expand our knowledge of the molecules composing the eosinophil granule and provide new tools to dissect eosinophil function in disease. ..
- Clinical Trial Planning Grant: Lentiviral Vector for HIV-1Donald Kohn; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- BIOLOGY AND PATHOGENICITY OF MYCOPLASMA GENITALIUMJoel Baseman; Fiscal Year: 2007..It is our expectation that the proposed studies will significantly increase our understanding of mycoplasma pathogenicity and advance new therapeutic strategies to control mycoplasma infections and disease progression. ..
- GANGLIOSIDE GENE MODULATION EFFECT ON CELL MOTILITYAmy Paller; Fiscal Year: 2007..These studies will provide information about the role of gangliosides in caveolin-1 mediated signaling and may lead to novel therapies for patients with abnormal healing responses. ..
- Virus Specific CTL following T cell depleted SCTKenneth Lucas; Fiscal Year: 2009....
- Innate Effectors of rAls3p-N Anti-Candida VaccineBrad J Spellberg; Fiscal Year: 2010..PNS 398/2590 (Rev. 11/07) Page - Continuation Format Page ..
- SATELLITE STEM CELL BIOLOGYFrank Booth; Fiscal Year: 2008..The outcomes of the research will provide a more scientific basis to devise therapies to prevent and treat sarcopenia and physical frailty. ..
- Bioencapsulated Factor IX for Oral Tolerance in Hemophilia BROLAND HERZOG; Fiscal Year: 2008..In future studies, the oral tolerance protocol will be further optimized and adapted to prevention of inhibitors to factor VIII in treatment of hemophilia A. [unreadable] [unreadable] [unreadable]..
- Islet Transplantation with Chimeric Donor PigsWilliam Beschorner; Fiscal Year: 2007..These will permit earlier detection of rejection or graft failure, and establish the safety of xenotransplantation with regards to risk of zoonotie or opportunistic infections. ..
- Conference--American Society of Gene TherapyDonald Kohn; Fiscal Year: 2008..The annual ASGT meeting is the premier meeting in the field of gene therapy and serves as a rich source of information for the future generation of gene therapists. ..
- Adrenergic Antagonism During Murine CandidiasisBrad Spellberg; Fiscal Year: 2008..For these reasons, the potential for adrenergic antagonism to act as an effective immunotherapy is highly meritorious of investigation in this training application. ..
- MLL AF4 LEUKEMIAJohn Kersey; Fiscal Year: 2009..Consideration will be given to HOXA cluster, MEIS1 or MLL fusion genes as potential therapeutic targets. ..
- Naturally occurring T regulatory cells control airway hyperresponsivenessErwin Gelfand; Fiscal Year: 2008..abstract_text> ..
- Fetal Biology and Therapy Training ProgramAlan Flake; Fiscal Year: 2008..Penn Graduate School and IHGT. This request is made for 2 Trainee slots in year 1, 3 Trainee slots in year 2, and 4 Trainee slots each year thereafter. ..
- Heart Xenotransplantation with Chimeric Donor PigsWilliam Beschorner; Fiscal Year: 2006..Follow up studies would establish the relative contribution of tissue accommodation and specific immune tolerance to the prolongation of heart xenograft survival. ..
- MYCOPLASMA PNEUMONIAE - AIRWAY INTERPLAYJoel Baseman; Fiscal Year: 2004..Ultimately, these studies should identify new therapeutic strategies to control mycoplasma infections in humans. ..
- EXERCISE INDUCED GROWTH OF SKELETAL MUSCLEFrank Booth; Fiscal Year: 2003..Elucidation of the mechanisms signaling skeletal muscle growth may lead to drugs, gene therapy, or other countermeasures against skeletal muscle wasting in individuals for whom exercise is perhaps impossible. ..
- KENNY CAFFY SYNDROME: BONE SCLEROSIS AND HYPOCALCEMIAGeorge Diaz; Fiscal Year: 2003..abstract_text> ..
- NETWORK OF PEDIATRIC PHARMACOLOGY RESEARCH UNITSMichael Brady; Fiscal Year: 2003..This would enhance the pace of pediatric drug development, increase the number of trained pediatric pharmacologists available, and improve both the amount and quality of pediatric pharmacology research produced. ..
- Proteomics: Inactivity-induced muscle insulin resistanceFrank Booth; Fiscal Year: 2002..Outcomes of this proposal will better establish that healthy active skeletal muscles interact with other organ systems to prevent the metabolic disorders of type 2 diabetes, atherosclerosis, and obesity. ..
- Failed rescue of old skeletal muscle from atrophyFrank Booth; Fiscal Year: 2004..Identifying the inappropriately expressed mRNAs associated with failed muscle regrowth of old muscles will permit a more scientifically-based growth factor rescue of old atrophied muscle. ..
- Vaccine efficacy post related and unrelated HCTTrudy Small; Fiscal Year: 2004..abstract_text> ..
- PRENATAL STRATEGIES FOR TREATMENT OF HEMOGLOBINOPATHIESAlan Flake; Fiscal Year: 2002..abstract_text> ..
- ENHANCING MUCOSAL IMMUNE RESPONSES BY MICROENCAPSULATIONPaul Offit; Fiscal Year: 2005..The availability of microencapsulated virus provides a unique opportunity to understand the relationship between APC and protective mucosal immune responses. ..
- Novel inhibitors of the replication of poxvirusesJohan Neyts; Fiscal Year: 2004..The final goal of this application is to advance a compound for the treatment of (systemic or cutaneous) poxvirus infections to the initial stages of development, i.e., selecting an IND candidate. ..
- Novel regulatory role of cryopyrin in inflammationHarold Hoffman; Fiscal Year: 2005..abstract_text> ..
- Human/Pig Model of Hepatitis C Virus for New VaccinesWilliam Beschorner; Fiscal Year: 2005..A large animal immune compentent model of HCV will lead to a better understanding of the pathogenesis of hepatitis C virus and to more effective vaccines and immune therapy. ..
- LENTIVIRAL VECTOR TRANSFER TO HEMATOPOIETIC STEM CELLSDonald Kohn; Fiscal Year: 2005..This "intracellular immunization" approach may provide a therapeutic measure against HIV-1 that adds to pre-existing therapies, such as anti-retroviral drugs. ..
- THE ROLE OF UROKINASE IN LUNG T LYMPHOCYTE RESPONSESMARGARET GYETKO; Fiscal Year: 2003..Determine if recombinant uPA can reverse the functional abnormalities in uPA minus/minus lymphocytes. ..
- ACETABULAR BONE LOSS AFTER PROSTHETIC HIP ARTHROPLASTYR Looney; Fiscal Year: 2005..In addition, DNA and serum samples from all subjects studied in this proposal will be banked. ..
- GENE THERAPY FOR HURLERS DISEASEDonald Kohn; Fiscal Year: 2001..Successful tolerance induction in murine and canine models of MPS I will be an Important step toward application of gene therapy in human patients. ..
- FLOW CYTOMETERMAURICE O GORMAN; Fiscal Year: 2002..The acquisition of a 4-color flow cytometer within CMIER will increase their utilization of this technology to enhance their research endeavors. ..
- HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSISJonathan Zonana; Fiscal Year: 2002..At the same time, the new knowledge should rapidly result in improved genetic diagnosis and counseling, and may even suggest avenues for future therapies. ..
- Function of Fc Receptor Related Intracellular ProteinsPETER BURROWS; Fiscal Year: 2007..abstract_text> ..
- GENE EXPRESSION IN BETA-CELLS BY LENTIVIRAL VECTORSDonald Kohn; Fiscal Year: 2003..g. beta-cell precursors), or as reporter genes to indicate the transcriptional status of the insulin or PDX-1 genes, e.g. in response to glucose concentrations, hormones, growth factors, genes, or drugs. ..
- DIFFERENTIATIVE PROGRAMS OF LYMPHOID PROGENITOR CELLSTUCKER LEBIEN; Fiscal Year: 2004..The collective results from these studies will enhance our understanding of the normal developmental program of human B lymphocytes and perturbations in the program that can give rise to leukemia and immunodeficiency. ..
- 13th International Workshop on Ataxia-Telangiectasia and ATMRichard Gatti; Fiscal Year: 2008..We also hope to encourage new young investigators to both clinical and basic A-T/ATM research. [unreadable] [unreadable] [unreadable]..
- C. Neoformans Infection in Organ Transplant RecipientsNina Singh; Fiscal Year: 2005..Finally, the data regarding reactivation or primary infection has implications relevant for the prevention of C. neoformans infection in transplant recipients. ..
- MARROW REGULATION IN CYCLIC HEMATOPOIESISDavid Dale; Fiscal Year: 2003....
- TGF-Beta Regulates B Lymphocyte Development & FunctionPETER BURROWS; Fiscal Year: 2005..The mouse models created for these experiments may become valuable tools for studies of autoimmune diseases and TGF-beta-resistant human malignancies. ..
- 12th International Workshop on Ataxia-Telangiectasia and ATMRichard Gatti; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..