Luigi D Notarangelo

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Immunodeficiencies due to defects of class-switch recombination
    Luigi D Notarangelo
    Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy
    Immunol Res 38:68-77. 2007
  2. ncbi request reprint Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
    Ulrike H M Ziegner
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, USA
    Clin Immunol 102:19-24. 2002
  3. ncbi request reprint X-linked immunodeficiencies
    Hans 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
  4. pmc Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency
    Jolan 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
  5. ncbi request reprint Combined immunodeficiencies with nonfunctional T lymphocytes
    Luigi D Notarangelo
    Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, USA Electronic address
    Adv Immunol 121:121-90. 2014
  6. pmc Partial defects of T-cell development associated with poor T-cell function
    Luigi D Notarangelo
    Division of Immunology and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    J Allergy Clin Immunol 131:1297-305. 2013
  7. doi request reprint 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
  8. ncbi request reprint Defective and excessive immunities in pediatric diseases
    Luigi 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
  9. pmc Primary immunodeficiencies: 2009 update
    Luigi 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
  10. doi request reprint Leukocyte trafficking in primary immunodeficiencies
    Luigi 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

Detail Information

Publications95

  1. ncbi request reprint Immunodeficiencies due to defects of class-switch recombination
    Luigi 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...
  2. ncbi request reprint Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
    Ulrike 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...
  3. ncbi request reprint X-linked immunodeficiencies
    Hans 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...
  4. pmc Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency
    Jolan 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
    ....
  5. ncbi request reprint Combined immunodeficiencies with nonfunctional T lymphocytes
    Luigi D Notarangelo
    Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, USA Electronic address
    Adv Immunol 121:121-90. 2014
    ..The study of these diseases, and of corresponding animal models, has provided fundamental insights on the mechanisms that govern immune homeostasis. ..
  6. pmc Partial defects of T-cell development associated with poor T-cell function
    Luigi D Notarangelo
    Division of Immunology and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    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...
  7. doi request reprint 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...
  8. ncbi request reprint Defective and excessive immunities in pediatric diseases
    Luigi 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...
  9. pmc Primary immunodeficiencies: 2009 update
    Luigi 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...
  10. doi request reprint Leukocyte trafficking in primary immunodeficiencies
    Luigi 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...
  11. pmc Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis
    Luigi 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...
  12. doi request reprint Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype
    Luigi D Notarangelo
    Division of Immunology, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Curr Opin Allergy Clin Immunol 8:534-9. 2008
    ....
  13. doi request reprint Primary immunodeficiencies
    Luigi 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...
  14. ncbi request reprint Genetic causes of bronchiectasis: primary immune deficiencies and the lung
    Luigi 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...
  15. pmc Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
    Francesca 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...
  16. doi request reprint Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia
    Miguel 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...
  17. ncbi request reprint Wiskott-Aldrich syndrome
    Luigi 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...
  18. pmc Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome
    Pietro 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...
  19. pmc IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo
    Mike 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...
  20. ncbi request reprint Omenn syndrome in an infant with IL7RA gene mutation
    Silvia 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...
  21. pmc WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function
    Lisa 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...
  22. pmc A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP
    Gaetana 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...
  23. doi request reprint Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment
    Federica 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...
  24. pmc Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function
    Lisa 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...
  25. pmc 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 study
    Daniele 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...
  26. pmc Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    Raif 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...
  27. pmc Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations
    Ponpan 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...
  28. pmc DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
    Haifa 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...
  29. ncbi request reprint Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
    YinZhu 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...
  30. ncbi request reprint WASP and the phenotypic range associated with deficiency
    Luigi 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...
  31. ncbi request reprint Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency
    Claretta 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...
  32. ncbi request reprint Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
    Silvia 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...
  33. doi request reprint Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency
    Evelina 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...
  34. ncbi request reprint Primary immune deficiencies unravel the molecular basis of immune response
    Luigi 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
    ....
  35. pmc B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice
    Mike Recher
    Children s Hospital, Division of Immunology and Manton Center for Orphan Disease Research, Boston, MA, USA
    Blood 119:2819-28. 2012
    ....
  36. pmc Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies
    Itai 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...
  37. pmc Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
    Arturo 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...
  38. ncbi request reprint AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy
    Luigi 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...
  39. pmc Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia
    Mike 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...
  40. pmc The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies
    Katja 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...
  41. pmc Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination
    Duane 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...
  42. doi request reprint Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
    Cinzia 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...
  43. ncbi request reprint An exemplum of XLA
    Luigi D Notarangelo
    Division of Immunology, Children s Hospital, Boston, MA, USA
    Clin Immunol 126:137-9. 2008
  44. pmc Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment
    Sung 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...
  45. pmc AIRE deficiency in thymus of 2 patients with Omenn syndrome
    Patrizia Cavadini
    1Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, University of Brescia, Brescia, Italy
    J Clin Invest 115:728-32. 2005
    ....
  46. doi request reprint Primary immune deficiencies with aberrant IgE production
    Esra 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...
  47. pmc 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 binding
    Michel 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...
  48. ncbi request reprint Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency
    Donn 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
    ..To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated growth hormone deficiency, focusing on the pedigree described originally...
  49. doi request reprint X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity
    Itai M Pessach
    Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
    J Autoimmun 33:17-24. 2009
    ....
  50. doi request reprint Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders
    Kerstin Felgentreff
    Division of Immunology, Boston Children s Hospital, Harvard Medical School, Boston, MA, USA Center of Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany The Manton Center for Orphan Disease Research, Boston Children s Hospital, Harvard Medical School, Boston, MA, USA Electronic address
    Clin Immunol 150:43-50. 2014
    ..A comparison of this cohort with 4 HIES patients illustrates the significant overlap of both syndromes including eczema and elevated IgE as well as skeletal and connective tissue manifestations. ..
  51. ncbi request reprint A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
    Yu Nee Lee
    Division of Immunology and Manton Center for Orphan Disease Research, Children s Hospital, Harvard Medical School, Boston, Mass
    J Allergy Clin Immunol 133:1099-108. 2014
    ..It is not clear what contributes to such heterogeneity of phenotypes...
  52. ncbi request reprint C4b-binding protein (C4BP) activates B cells through the CD40 receptor
    Scott 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...
  53. ncbi request reprint Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation
    Luigi 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...
  54. doi request reprint Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes
    Itai 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...
  55. doi request reprint 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
    ....
  56. ncbi request reprint The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment
    Daniele 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...
  57. ncbi request reprint Severe combined immunodeficiency (SCID): from molecular basis to clinical management
    Ivonne 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...
  58. ncbi request reprint Stem cell transplantation in primary immunodeficiencies
    Luigi 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...
  59. doi request reprint A119: deep sequencing analysis of the T regulatory and T effector repertoire in juvenile idiopathic arthritis
    Lauren A Henderson
    Boston Children s Hospital, Boston, MA
    Arthritis Rheumatol 66:S156. 2014
    ..Further, the Treg repertoire has not been studied in adult or pediatric inflammatory arthritis. Therefore, we endeavored to characterize these TCR repertoires in JIA through deep sequencing technology...
  60. ncbi request reprint Application and implementation of the GINA asthma guidelines by specialist and primary care physicians: a longitudinal follow-up study on 264 children
    Sebastiano 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...
  61. doi request reprint Advances in basic and clinical immunology in 2012
    Javier 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...
  62. ncbi request reprint Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis
    S Pirovano
    Terzo Servizio Analisi, Spedali Civili of Brescia, Brescia, Italy
    Immunol Lett 86:93-7. 2003
    ....
  63. ncbi request reprint Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
    Lucia 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...
  64. doi request reprint Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation
    Donatella 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...
  65. ncbi request reprint The italian network of primary immunodeficiencies
    Alessandro Plebani
    Department of Pediatrics, University of Brescia, Italy
    Iran J Allergy Asthma Immunol 3:165-8. 2004
    ....
  66. ncbi request reprint 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
    ....
  67. ncbi request reprint Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway
    Richard 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
  68. ncbi request reprint Hyper IgM syndromes
    A 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...
  69. ncbi request reprint Defects of class-switch recombination
    Luigi 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
    ....
  70. ncbi request reprint Functional defects of dendritic cells in patients with CD40 deficiency
    Stefania 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...
  71. pmc Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
    Matteo 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...
  72. ncbi request reprint Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency
    Necil 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...
  73. ncbi request reprint Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency
    Annarosa Soresina
    Istituto di Medicina Molecolare Angelo Nocivelli Clinica Pediatrica, Universita di Brescia, Spedali Civili, 25123 Brescia, Italy
    Eur J Pediatr 161:656-9. 2002
    ..Distinguishing between these two diseases is essential since they have different prognosis, treatment and genetic counselling...
  74. ncbi request reprint Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study
    Alessandro 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...
  75. doi request reprint X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update
    Donn 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...
  76. ncbi request reprint Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement
    Alessandro Aiuti
    Nat Med 8:423-5. 2002
  77. pmc A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome
    Veronica 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...
  78. ncbi request reprint Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome
    Melinda 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...
  79. ncbi request reprint Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency
    Evelina 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...
  80. ncbi request reprint Immunological and genetic bases of new primary immunodeficiencies
    Laszlo 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
    ....
  81. ncbi request reprint What does it take to call it a pathogenic mutation?
    Thomas A Fleisher
    Clin Immunol 128:285-6. 2008
  82. ncbi request reprint G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms
    Marta 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...
  83. ncbi request reprint X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update
    Donn 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...
  84. ncbi request reprint A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome
    Claudia 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...
  85. ncbi request reprint Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome
    Anna Virginia Gulino
    Clinica Pediatrica, Universita di Brescia, c o Spedali Civili, 25 123 Brescia, Italy
    Blood 104:444-52. 2004
    ....
  86. ncbi request reprint BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia
    Maurilia 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...
  87. ncbi request reprint Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002
    Andrew 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...
  88. ncbi request reprint Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs
    Marko 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
    ....
  89. ncbi request reprint Bone marrow transplantation for severe combined immune deficiency
    Eyal 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
    ..However, compared with RIDs, use of MMRDs for BMT is associated with reduced survival and inferior long-term immune reconstitution. Use of HLA-matched unrelated donors (MUDs) represents another potential alternative for BMT...
  90. ncbi request reprint Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency
    Necil Kutukculer
    J Pediatr 143:141-2. 2003
  91. ncbi request reprint Innate immunity defects in Hermansky-Pudlak type 2 syndrome
    Stefania Fontana
    Istituto di Medicina Molecolare Angelo Nocivelli, Universita di Brescia, 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...
  92. ncbi request reprint Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia
    Asghar 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...
  93. ncbi request reprint Education and worldwide collaboration pays off
    Laszlo Marodi
    Nat Immunol 8:323-4. 2007
  94. ncbi request reprint 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 Transplantation
    Hulya Ozsahin
    Department of Pediatrics, Geneva University Hospital, Geneva, Switzerland
    Blood 111:439-45. 2008
    ....