Luigi D Notarangelo

Summary

Affiliation: University of Brescia
Country: Italy

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications65

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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
    ....
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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
    ....
  18. 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...
  19. 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...
  20. 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
    ....
  21. 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
    ....
  22. 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...
  23. 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...
  24. ncbi request reprint Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients
    Sara Trifari
    San Raffaele Telethon Institute for Gene Therapy, Milan, Italy
    J Immunol 177:7451-61. 2006
    ..Together, our data indicate that WASP regulates the transcriptional activation of T cells and is required specifically for Th1 cytokine production...
  25. ncbi request reprint What does it take to call it a pathogenic mutation?
    Thomas A Fleisher
    Clin Immunol 128:285-6. 2008
  26. pmc WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells
    Francesco Marangoni
    San Raffaele Telethon Institute for Gene Therapy HSR TIGET, 20132 Milan, Italy
    J Exp Med 204:369-80. 2007
    ..Thus, WASP appears to play an important role in the activation and suppressor function of nTreg cells, and a dysfunction or incorrect localization of nTreg cells may contribute to the development of autoimmunity in WAS patients...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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
    ....
  32. 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
  33. 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...
  34. 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
    ....
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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
    ....
  40. 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
  41. ncbi request reprint Structure and function of the Wiskott-Aldrich syndrome protein
    Hans D Ochs
    Departments of Pediatrics, University of Washington, Seattle, Washington 98109, USA
    Curr Opin Hematol 12:284-91. 2005
    ..The responsible gene, WASP, has multiple domains, each with unique functions that were only recently fully recognized...
  42. 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
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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
    ....
  48. 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...
  49. doi request reprint Genetically determined lymphopenia and autoimmune manifestations
    Anna Villa
    Istituto Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, San Raffaele Telethon Institute for Gene Therapy, Milan, Italy
    Curr Opin Immunol 20:318-24. 2008
    ..Recently described murine models support this notion. This review describes human and murine situations, in which genetically determined T and B cell lymphopenia is associated with autoimmune manifestations...
  50. doi request reprint Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
    Alessandra Santoro
    Divisione di Ematologia I, A O V Cervello, Palermo, Italy
    Haematologica 93:1086-90. 2008
    ..This finding has implications for designing strategies for analysis of the families with suspected familial hemophagocytic lymphohistiocytosis...
  51. ncbi request reprint Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
    Annalisa Frattini
    Istituto di Tecnologie Biomediche, CNR, Milan, Italy
    J Bone Miner Res 18:1740-7. 2003
    ..The remaining five patients seem to be heterozygous for a ClCN7 mutation, and significant variations were observed in the clinical manifestations of their disease, even within the same family...
  52. ncbi request reprint Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study
    Baldassarre Martire
    Dipartimento di Biomedicina dell Eta Evolutiva, Universita di Bari, Italy
    Clin Immunol 126:155-64. 2008
    ..No evidence justifying long-term prophylaxis with IFNgamma was obtained...
  53. 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
    ....
  54. ncbi request reprint Natural killer cell deficiencies and severe varicella infection
    Luigi D Notarangelo
    J Pediatr 148:563-4; author reply 564. 2006
  55. 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...
  56. 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...
  57. ncbi request reprint The awareness among paediatricians of off-label prescribing in children: a survey of Italian hospitals
    Federico Marchetti
    Department of Paediatrics, Institute of Child Health, IRCCS Burlo Garofolo and University of Trieste, Via dell Istria 65 1, 34100 Trieste, Italy
    Eur J Clin Pharmacol 63:81-5. 2007
    ..To investigate paediatricians' perception and awareness of off-label (OL) and unlicensed drug usage in clinical practice...
  58. 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
    ....
  59. ncbi request reprint Education and worldwide collaboration pays off
    Laszlo Marodi
    Nat Immunol 8:323-4. 2007
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. 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...
  65. 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