Genomes and Genes
Luigi D Notarangelo
Affiliation: University of Brescia
- 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....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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....
- 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...
- 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...
- 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...
- 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...
- 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....
- 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...
- Innate immunity defects in Hermansky-Pudlak type 2 syndromeStefania 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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..To provide an update on the syndrome X-linked hypogammaglobulinemia with isolated growth hormone deficiency, focusing on the pedigree described originally...
- 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....
- 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....
- Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiencyAnnarosa 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...
- 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....
- 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...
- 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
- 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...
- 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....
- 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...
- 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...
- What does it take to call it a pathogenic mutation?Thomas A Fleisher
Clin Immunol 128:285-6. 2008
- 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...
- 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...
- 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...
- An exemplum of XLALuigi D Notarangelo
Division of Immunology, Children s Hospital, Boston, MA, USA
Clin Immunol 126:137-9. 2008
- Structure and function of the Wiskott-Aldrich syndrome proteinHans 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...
- 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...
- 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...
- 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....
- 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...
- Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patientsSara 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...
- 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...
- Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiencyNecil Kutukculer
J Pediatr 143:141-2. 2003
- WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cellsFrancesco 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...
- 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...
- Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacementAlessandro Aiuti
Nat Med 8:423-5. 2002
- 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...
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisAnnalisa 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...
- Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3Alessandra 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...
- Genetically determined lymphopenia and autoimmune manifestationsAnna 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...
- 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....
- Natural killer cell deficiencies and severe varicella infectionLuigi D Notarangelo
J Pediatr 148:563-4; author reply 564. 2006
- 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...
- 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...
- 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...
- The awareness among paediatricians of off-label prescribing in children: a survey of Italian hospitalsFederico 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...
- 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...
- 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...
- 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..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...
- Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter studyBaldassarre 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...
- Education and worldwide collaboration pays offLaszlo Marodi
Nat Immunol 8:323-4. 2007
- 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....