Research Topics
Genomes and Genes
| Luigi D NotarangeloSummaryAffiliation: Harvard University Country: USA Publications
| Collaborators
|
Detail Information
Publications
Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatmentUlrike H M Ziegner
Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, USA
Clin Immunol 102:19-24. 2002..To help determine the etiology of this rare complication, an international surveillance system for primary immunodeficiency patients who develop progressive neurodegeneration of unknown cause is recommended...- X-linked immunodeficienciesHans D Ochs
Department of Pediatrics, University of Washington, Children s Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA
Curr Allergy Asthma Rep 4:339-48. 2004..Additionally, gene therapy has been attempted in X-linked severe combined immune deficiency (XSCID), with clear evidence of successful correction of the pathology, and the appearance of severe adverse effects... - Immunodeficiencies due to defects of class-switch recombinationLuigi D Notarangelo
Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy
Immunol Res 38:68-77. 2007..At the same time, recognition that defective maturation of antibody responses may result from different mechanisms, has been essential to better define prognosis and to tailor more appropriate and specific forms of treatment... 
Partial defects of T-cell development associated with poor T-cell functionLuigi D Notarangelo
Division of Immunology and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, Mass Electronic address
J Allergy Clin Immunol 131:1297-305. 2013..Along with recurrent and severe infections, especially cutaneous viral infections, the clinical phenotype of these conditions is characterized by prominent immune dysregulation...
Functional T cell immunodeficiencies (with T cells present)Luigi D Notarangelo
Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, Massachusetts 02115, USA
Annu Rev Immunol 31:195-225. 2013..The study of patients with these rare conditions, and of corresponding animal models, illustrates the importance of intracellular signaling to maintain T cell homeostasis...- Defective and excessive immunities in pediatric diseasesLuigi Daniele Notarangelo
Division of Immunology, Children s Hospital Boston, Harvard Medical School, Karp 9, 09210, 1 Blackfan Circle, Boston, MA 02115, USA
Curr Pharm Des 18:5729-34. 2012..Based on these considerations, novel therapies could be developed to cure severe autoimmune and inflammatory disorders, not only by aiming to hyper-activation but as well by focusing on the possible underlying immune defects... - Leukocyte trafficking in primary immunodeficienciesLuigi D Notarangelo
Division of Immunology, Children s Hospital, Harvard Medical School, 1 Blackfan Circle, Boston, MA 02115, USA
J Leukoc Biol 85:335-43. 2009..Here, we review the mechanisms and consequences of impaired leukocyte trafficking in leukocyte adhesion-deficiency syndromes, Warts-Hypo-gamma-globulinemia-Infections-Myelokathexis syndrome and Wiskott-Aldrich syndrome... - 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... - Genetic causes of bronchiectasis: primary immune deficiencies and the lungLuigi D Notarangelo
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Respiration 74:264-75. 2007..This review article describes the most common forms of PID, their cellular and molecular bases, and the associated lung abnormalities, and reports on available treatment... - Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasisLuigi D Notarangelo
Division of Immunology, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
J Exp Med 205:2693-7. 2008..New studies now identify three patients in whom PAP was caused by mutations in the gene encoding the ligand-binding alpha chain of the GM-CSF receptor... - Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotypeLuigi D Notarangelo
Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
Curr Opin Allergy Clin Immunol 8:534-9. 2008.... - 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... - Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiencyJolan E Walter
Division of Immunology and The Manton Center for Orphan Disease Research, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
J Exp Med 207:1541-54. 2010.... - Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasiaMiguel A de la Fuente
Division of Immunology and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
J Allergy Clin Immunol 128:139-46. 2011..CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, which is involved in ribosomal assembly, telomere function, and cell cycle control... - Wiskott-Aldrich syndromeLuigi D Notarangelo
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
Curr Opin Hematol 15:30-6. 2008..This review will focus on recent progress in understanding the molecular basis of Wiskott-Aldrich syndrome and its ramifications for the cure of this lethal disease... - IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivoMike Recher
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
Blood 118:6824-35. 2011..Furthermore, in vitro stimulation with CD40L/IL-21 can predict in vivo B-cell immunity in IL2RG/JAK3 SCID after transplantation... - Omenn syndrome in an infant with IL7RA gene mutationSilvia Giliani
Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, 25123 Brescia, Italy
J Pediatr 148:272-4. 2006..Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition... - A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIPGaetana Lanzi
A Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, 25123 Brescia, Italy
J Exp Med 209:29-34. 2012..Introduction of WIP into the patient's T cells restored WASP expression. These findings indicate that WIP deficiency should be suspected in patients with features of WAS in whom WAS sequence and mRNA levels are normal... - Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and functionLisa S Westerberg
Gastrointestinal Unit, Massachusetts General Hospital, Boston, MA 02115, USA
Blood 119:3966-74. 2012..Our results reveal that the combined activity of WASP and N-WASP is required for peripheral B-cell development and function... - Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification CommitteeRaif S Geha
Division of Immunology, Children s Hospital, Boston, MA 02115, USA
J Allergy Clin Immunol 120:776-94. 2007..In its last meeting in Jackson Hole, Wyo, after 3 days of intense scientific presentations and discussions, the committee has updated the classification of PID, as reported in this article... - Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndromePietro Luigi Poliani
Department of Pathology, University of Brescia, Brescia, Italy
Blood 114:105-8. 2009..Our data provide evidence that severe defects of thymopoiesis impinge on TEC homeostasis and may affect deletional and nondeletional mechanisms of central tolerance, thus favoring immune dysreactive manifestations, as in Omenn syndrome... - Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative studyDaniele Moratto
A Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disorders of Childhood, Spedali Civili, Brescia, Italy
Blood 118:1675-84. 2011..These observations indicate continuous improvement of outcome after HCT for WAS and may have important implications for the development of novel protocols aiming to obtain full correction of the disease and reduce post-HCT complications... - WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and functionLisa S Westerberg
Gastrointestinal Unit and the Center for the Study of Inflammatory Bowel Diseases, Massachusetts General Hospital, Boston, USA
Blood 112:4139-47. 2008..Our findings reveal that WASP regulates both development and function of hematopoietic cells. We demonstrate that WASP deficiency leads to an aberrant MZ that may affect responses to blood-borne pathogens and peripheral B-cell tolerance... - Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlationYinZhu Jin
Department of Pediatrics, University of Washington, Seattle, WA 98109, USA
Blood 104:4010-9. 2004..By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype... - Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndromeFrancesca Rucci
Division of Immunology and Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 107:3024-9. 2010..These findings highlight the importance of LIG4 in lymphocyte development and function, and in genomic stability maintenance, and provide a model for the complex phenotype of LIG4 syndrome in humans... - Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiencyEvelina Mazzolari
Divisione di Emato Oncologia Pediatrica, Ospedale dei Bambini, Spedali Civili, Brescia, Italy
Immunol Res 44:4-17. 2009..Persistence of a low number of circulating naive T cells and long-term requirement for intravenous immunoglobulin were associated with a higher incidence of clinical events... - Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiencyClaretta Gioia Losi
Clinica Pediatrica and Istituto di Medicina Molecolare Angelo Nocivelli, Spedali Civili, Brescia, Italy
J Clin Immunol 25:496-502. 2005..These variants do not affect the expression of BAFF-R neither at the mRNA nor at the protein level, suggesting that these variants represent novel polymorphic variants of the BAFF-R gene... - WASP and the phenotypic range associated with deficiencyLuigi D Notarangelo
Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy
Curr Opin Allergy Clin Immunol 5:485-90. 2005..Advances in preclinical models of gene therapy for WAS are presented... - Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patientsSilvia Giliani
Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy
Immunol Rev 203:110-26. 2005..We also report on the clinical and immunological features of 16 novel patients with IL-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation... - DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activationHaifa H Jabara
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
Nat Immunol 13:612-20. 2012..Thus, DOCK8 functions as an adaptor in a TLR9-MyD88 signaling pathway in B cells... - B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in miceMike Recher
Children s Hospital, Division of Immunology and Manton Center for Orphan Disease Research, Boston, MA, USA
Blood 119:2819-28. 2012.... - Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporterArturo Borzutzky
Division of Immunology, Children s Hospital Boston, Boston, MA, USA
Clin Immunol 133:287-94. 2009..PCFT mutations should be considered in infants with SCID-like phenotype, as the immunodeficiency is reversible with parenteral folinic acid repletion... - 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... - Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemiaMike Recher
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Clin Immunol 146:84-9. 2013..Despite undetectable serum immunoglobulins, the patient's B cells replicated and differentiated into antibody producing cells normally in vitro... - The role of induced pluripotent stem cells in research and therapy of primary immunodeficienciesKatja G Weinacht
Division of Hematology Oncology, Children s Hospital Boston, Boston, USA
Curr Opin Immunol 24:617-24. 2012..Our state of the art understanding of human induced pluripotent stem cells, their capacity, their limitations and their promise as it pertains to the study and treatment of primary immunodeficiencies, is the content of this review... - Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombinationDuane R Wesemann
Program in Cellular and Molecular Medicine and Immune Disease Institute, Children s Hospital Boston, MA 02115, USA
J Exp Med 208:2733-46. 2011..Our findings suggest that IgE dysregulation in certain immunodeficiencies may be related to impaired B cell maturation... - Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutationsPonpan Matangkasombut
Division of Immunology, Children s Hospital Boston, Harvard Medical School, Boston, MA, USA
Blood 111:271-4. 2008..These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome... - C4b-binding protein (C4BP) activates B cells through the CD40 receptorScott R Brodeur
Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Immunity 18:837-48. 2003..Furthermore, C4BP colocalized with B cells in the germinal centers of human tonsils. These observations suggest that C4BP is an activating ligand for CD40 and establish a novel interface between complement and B cell activation... - Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiencyDonn M Stewart
Metabolism Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA, and Department of Pediatrics, University of Brescia, Italy
Curr Opin Allergy Clin Immunol 5:510-2. 2005..SUMMARY: X-linked hypogammaglobulinemia with isolated growth hormone deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor... - Primary immune deficiencies with aberrant IgE productionEsra Ozcan
Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
J Allergy Clin Immunol 122:1054-62; quiz 1063-4. 2008..Insight into IgE regulation provided by the study of primary immune deficiencies with elevated IgE has important implications for allergic diseases... - An exemplum of XLALuigi D Notarangelo
Division of Immunology, Children's Hospital, Boston, MA, USA
Clin Immunol 126:137-9. 2008 - Primary immune deficiencies unravel the molecular basis of immune responseLuigi D Notarangelo
Department of Pediatrics and Institute of Molecular Medicine Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
Rev Clin Exp Hematol 7:84-111. 2003.... - A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP bindingMichel J Massaad
Division of Immunology, Children s Hospital, Boston, MA 02115, USA
J Allergy Clin Immunol 127:998-1005.e1-2. 2011..The majority of missense mutations in patients with WAS/XLT are located in the WIP-binding domain of WASP and might result in dissociation of the WASP-WIP complex and WASP degradation... - Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndromeCinzia Mazza
A Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disease of Childhood, Spedali Civili, Brescia, Italy
Clin Immunol 139:6-11. 2011..Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED... - Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatmentSung Yun Pai
Division of Hematology Oncology, Children s Hospital Boston, Karp Family Research Laboratories, 8th Floor, Room 8214, 1 Blackfan Circle, Boston, MA 02115, USA
Immunol Allergy Clin North Am 30:179-94. 2010..The current short- and long-term toxicities of HCT are the main stumbling block for the ability to cure every patient with WAS and X-linked thrombocytopenia, and much remains to be done... - 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.... - Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypesItai Pessach
Division of Immunology, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
Pediatr Res 65:3R-12R. 2009..Overall, these achievements highlight the importance of human models, which often differ from the corresponding animal models... - The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatmentDaniele Moratto
University of Brescia, Angelo Nocivelli Institute of Molecular Medicine, c o Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, Italy
Expert Rev Clin Immunol 3:813-24. 2007..The array of currently available and foreseeable therapeutic options is reviewed in this context as a model for other more common genetic disorders... - Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formationLuigi D Notarangelo
Department of Pediatrics, University of Brescia, Spedali Civili, 25123 Brescia
Curr Opin Immunol 15:585-91. 2003..Mutation analysis of large cohorts of WAS/X-linked thrombocytopenia patients has provided evidence for a strong correlation between phenotype and genotype... - AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophyLuigi D Notarangelo
Department of Pediatrics and Angelo Nocivelli Institute of Molecular Medicine, Children s Hospital, University of Brescia, 25123 Brescia, Italy
Curr Opin Allergy Clin Immunol 4:491-6. 2004..We will summarize how AIRE contributes to immunological tolerance, and thus to the prevention of autoimmunity... - Is it necessary to identify molecular defects in primary immunodeficiency disease?Luigi D Notarangelo
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
J Allergy Clin Immunol 122:1069-73. 2008.... - Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftmentFederica Cattaneo
Division of Hematology Oncology, The Manton Center for Orphan Disease Research, Department of Laboratory Medicine, Boston Children s Hospital, and Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
J Allergy Clin Immunol 131:1136-45. 2013..Maternal T-cell engraftment is a common finding in infants with severe combined immunodeficiency but is not typically observed in patients with residual T-cell development... - Severe combined immunodeficiency (SCID): from molecular basis to clinical managementIvonne Sponzilli
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
Acta Biomed 82:5-13. 2011..Gene therapy and enzyme replacement therapy have also been used successfully is selected forms of SCID. Here we review the molecular and cellular pathophysiology and the mainstay of treatment of SCID... - Stem cell transplantation in primary immunodeficienciesLuigi D Notarangelo
Department of Pediatrics, University of Brescia, Italy
Curr Opin Allergy Clin Immunol 6:443-8. 2006..To review indications and outcomes of haematopoietic stem cell transplantation in primary immunodeficiencies, in light of recent advances in the field... - X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunityItai M Pessach
Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
J Autoimmun 33:17-24. 2009.... - Advances in basic and clinical immunology in 2012Javier Chinen
Immunology, Allergy and Rheumatology Section, Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
J Allergy Clin Immunol 131:675-82. 2013..The use of anti-IL-6 mAbs showed promise as an alternative treatment in patients with Schnitzler syndrome... - Missense mutations of the WASP gene cause intermittent X-linked thrombocytopeniaLucia D Notarangelo
Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
Blood 99:2268-9. 2002..This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number... - The italian network of primary immunodeficienciesAlessandro Plebani
Department of Pediatrics, University of Brescia, Italy
Iran J Allergy Asthma Immunol 3:165-8. 2004.... - Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutationDonatella Vairo
Pediatric Clinic and A Nocivelli Institute of Molecular Medicine, Brescia, Italy
Blood 118:1806-17. 2011..These results suggested that exon 3 skipping of STAT1 leads to abnormal signaling in response to IFN-γ and IFN-α, which is associated with susceptibility to intracellular pathogens and viruses... - Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitisS Pirovano
Terzo Servizio Analisi, Spedali Civili of Brescia, Brescia, Italy
Immunol Lett 86:93-7. 2003.... - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?F Buzi
Pediatric Department and Institute of Molecular Medicine A Nocivelli, University of Brescia, 25123 Brescia, Italy
J Clin Endocrinol Metab 88:3146-8. 2003.... - Hyper IgM syndromesA Virginia Gulino
Department of Pediatrics, University of Brescia, Italy
Curr Opin Rheumatol 15:422-9. 2003..Abnormalities in these genes are likely involved also in lymphoid tumorigenesis and autoimmunity... - Application and implementation of the GINA asthma guidelines by specialist and primary care physicians: a longitudinal follow-up study on 264 childrenSebastiano Guarnaccia
Laboratorio Clinico Pedagogico e Ricerca Biomedica, Ospedale dei Bambini, Brescia, Italy
Prim Care Respir J 16:357-62. 2007..To implement GINA guidelines and to assess their impact on the management of childhood asthma... - Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathwayRichard Fabian Schumacher
Department of Pediatrics, Angelo Nocivelli Institute of Molecular Medicine, University of Brescia-Spedali Civili, Brescia, Italy
Isr Med Assoc J 4:131-5. 2002 - Defects of class-switch recombinationLuigi D Notarangelo
Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia Spedali Civili, Italy
J Allergy Clin Immunol 117:855-64. 2006.... - Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002Andrew R Gennery
Newcastle General Hospital, Westgate Rd, Newcastle upon Tyne, NE4 6BE United Kingdom
Blood 103:1152-7. 2004..Preexisting lung damage was the most important adverse risk factor. Further studies will determine optimal timing and type of HSCT... - Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter studyAlessandro Plebani
Dipartimento di Pediatria, Universita di Brescia, Italy
Clin Immunol 104:221-30. 2002..Sistemic infections such as sepsis and meningitis/meningoencephalitis decreased over follow-up, probably due to optimal protection provided by high circulating IgG levels reached with IVIG... - Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacementAlessandro Aiuti
Nat Med 8:423-5. 2002 - What does it take to call it a pathogenic mutation?Thomas A Fleisher
Clin Immunol 128:285-6. 2008 - Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiencyNecil Kutukculer
J Pediatr 143:141-2. 2003 - Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiencyAnnarosa Soresina
Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, , Spedali Civili, 25123 Brescia, Italy
Eur J Pediatr 161:656-9. 2002..CONCLUSION: current techniques, such as genetic analysis of the SH2D1A gene and expression of signalling lymphocyte activation molecule-associated protein, allow a definite diagnosis of X-linked lymphoproliferative disease... - Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiencyNecil Kutukculer
Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey
J Pediatr 142:194-6. 2003..Laboratory investigations disclosed a diagnosis of hyper-IgM syndrome caused by CD40 deficiency... - BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemiaMaurilia Fiorini
Angelo Nocivelli Institute of Molecular Medicine, Spedali Civili University of Brescia, Italy
Hum Mutat 23:286. 2004..Among the mutations identified, three were detected in different unrelated families, whereas all the others were private mutations... - Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndromeAnna Virginia Gulino
Clinica Pediatrica, Universita di Brescia, c o Spedali Civili, 25 123 Brescia, Italy
Blood 104:444-52. 2004.... - X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an updateDonn M Stewart
Immunophysiology Section, Metabolism Branch, CCR, NCI, National Institute of Health, Bldg 10, Bethesda, MD 20892, USA
Immunol Res 40:262-70. 2008..The current review summarizes the clinical, laboratory, and genetic features of the disease as they have unfolded over the past quarter-century since its description... - Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutationsMatteo M Guerrini
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate 20090, Italy
Am J Hum Genet 83:64-76. 2008..Our results indicate that TNFRSF11A mutations can cause a clinical condition in which severe ARO is associated with an immunoglobulin-production defect... - X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an updateDonn M Stewart
Immunophysiology Section, Metabolism Branch, NCI, NIH, National Institutes of Health, Bldg 10, Rm 4N115, MSC 1374, Bethesda, MD 20892, USA
Immunol Res 38:391-9. 2007..The current review summarizes the clinical, laboratory and genetic features of the disease as they have unfolded over the past quarter century since its description... - Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow TransplantationHulya Ozsahin
Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland
Blood 111:439-45. 2008.... - Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiencyEvelina Mazzolari
Divisione di Oncoematologia Pediatrica, Ospedale dei Bambini, Spedali Civili
J Allergy Clin Immunol 120:892-9. 2007..Currently, hematopoietic stem cell transplantation allows long-term survival in a high proportion of infants with congenital severe T-cell immunodeficiency. However, relatively little is known of their long-term quality of life... - Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndromeMelinda Erdos
Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt 98, H 4032 Debrecen, Hungary
Mol Immunol 45:278-82. 2008..This is the first comprehensive overview of molecular genetic features of Hungarian patients with HIGM syndrome... - A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndromeVeronica Marrella
Human Genome Department, Istituto di Tecnologie Biomediche, CNR, Via Fratelli Cervi 93, Segrate, Milan 20090, Italy
J Clin Invest 117:1260-9. 2007..In conclusion, Rag2(R229Q/R229Q) mice mimicked most symptoms of human OS; our findings support the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS... - Education and worldwide collaboration pays offLaszlo Marodi
Nat Immunol 8:323-4. 2007 - G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganismsMarta Donini
Department of Pathology, Section of General Pathology, University of Verona, Italy
Blood 109:4716-23. 2007..Thereby, we propose that the treatment with G-CSF is not sufficient to correct all of the functional deficiency of neutrophils, and this might account for the consistent risk of infections observed in SCN patients... - Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemiaAsghar Aghamohammadi
Division of Clinical Pediatric Immunology, Children s Medical Center, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
Int Arch Allergy Immunol 141:408-14. 2006..Eighty-five percent of the patients with this phenotype have mutations in Bruton's tyrosine kinase (BTK) gene... - Innate immunity defects in Hermansky-Pudlak type 2 syndromeStefania Fontana
Istituto di Medicina Molecolare Angelo Nocivelli, , c/o Spedali Civili, 25123 Brescia, Italy
Blood 107:4857-64. 2006..Taken together, these observations suggest that type 2 Hermansky-Pudlak syndrome is characterized by defects of innate immunity... - Bone marrow transplantation for severe combined immune deficiencyEyal Grunebaum
Division of Immunology/Allergy, Department of Paediatrics, Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
JAMA 295:508-18. 2006..3%] of 41; P = .002). CONCLUSION: Our study suggests that in the absence of a relative with identical HLA, MUD BMT may provide better engraftment, immune reconstitution, and survival for patients with SCID than MMRD BMT... - Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugsMarko Pesu
Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820, USA
Immunol Rev 203:127-42. 2005.... - Functional defects of dendritic cells in patients with CD40 deficiencyStefania Fontana
Clinica Pediatrica, Universita di Brescia, c o Spedali Civili, 25123 Brescia, Italy
Blood 102:4099-106. 2003..These observations suggest that the severe impairment of DC maturation may contribute to the defect of T-cell-mediated immunity observed in HIGM3 patients... - A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndromeClaudia Fiorini
Istituto di Medicina Molecolare A Nocivelli, Clinica Pediatrica, Universita di Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy
Eur J Pediatr 163:704-8. 2004..This alteration leads to the use of two cryptic splicing sites causing the formation of two different mRNA species... - Immunological and genetic bases of new primary immunodeficienciesLaszlo Marodi
Department of Infectious and Pediatric Immunology, University of Debrecen Medical and Health Science Center, H 4, 012 Debrecen, Hungary
Nat Rev Immunol 7:851-61. 2007....