{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T18:27:03Z","timestamp":1786991223094,"version":"build-2736575974"},"reference-count":102,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2015,5]]},"DOI":"10.1016\/j.jaci.2015.02.037","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T06:15:16Z","timestamp":1430806516000},"page":"1132-1141","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Advances in basic and clinical immunology in 2014"],"prefix":"10.1016","volume":"135","author":[{"given":"Javier","family":"Chinen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi D.","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William T.","family":"Shearer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2015.02.037_bib1","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.jaci.2014.06.015","article-title":"The\u00a0CARD11-BCL10-MALT1 (CBM) signalosome complex: stepping into the limelight of human primary immunodeficiency","volume":"134","author":"Turvey","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib2","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/j.jaci.2013.10.045","article-title":"Combined immunodeficiency associated with homozygous MALT1 mutations","volume":"133","author":"McKinnon","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib3","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.jaci.2014.06.001","article-title":"MHC class I and II deficiencies","volume":"134","author":"Hannah","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib4","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1016\/j.jaci.2014.06.006","article-title":"Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation","volume":"134","author":"Simhadri","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib5","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.jaci.2014.02.018","article-title":"MicroRNA-150 regulates the cytotoxicity of natural killers by targeting perforin-1","volume":"134","author":"Kim","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib6","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.jaci.2014.01.037","article-title":"Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia and multiple sclerosis","volume":"134","author":"Sic","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib7","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.jaci.2013.06.047","article-title":"High-content cytometry and transcriptomic biomarker profiling of human B-cell activation","volume":"133","author":"Hennig","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib8","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.jaci.2014.02.043","article-title":"Analysis of somatic hypermutation in the IgM switch region in human B cells","volume":"134","author":"Horiuchi","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib9","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.jaci.2013.11.015","article-title":"Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation","volume":"134","author":"Van Zelm","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib10","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1016\/j.jaci.2013.11.018","article-title":"Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development","volume":"133","author":"Yu","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib11","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.jaci.2013.08.050","article-title":"Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome","volume":"134","author":"Simon","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.jaci.2013.12.1083","article-title":"The BLNK adaptor protein has a nonredundant role in human B-cell differentiation","volume":"134","author":"Legresle-Peyrou","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib13","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.jaci.2013.10.051","article-title":"Signaling lymphocyte activation molecule associated protein (SAP) pathway regulates human B cell tolerance","volume":"133","author":"Menard","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib14","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.jaci.2014.07.042","article-title":"Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells","volume":"134","author":"Janssen","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib15","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.jaci.2014.03.017","article-title":"Dysregulated extracellular signal-regulated kinase signaling associated with impaired B-cell receptor endocytosis in patients with common variable immunodeficiency","volume":"134","author":"Visentine","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib16","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1016\/j.jaci.2013.11.021","article-title":"A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency","volume":"133","author":"Pieper","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib17","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1016\/j.jaci.2013.11.029","article-title":"Pulmonary alveolar proteinosis in adenosine-deaminase-deficient mice","volume":"133","author":"Dhanju","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib18","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1016\/j.jaci.2013.10.050","article-title":"CXCR4\/IgG-expressing plasma cells are associated with human gastrointestinal tissue inflammation","volume":"133","author":"Buckner","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib19","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/j.jaci.2013.09.022","article-title":"TH17 differentiation capacity develops within the first 3 months of life","volume":"133","author":"Dijkstra","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib20","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.jaci.2013.08.030","article-title":"Differential homeostatic dynamics of human regulatory T cell subsets following neonatal thymectomy","volume":"133","author":"Schadenberg","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib21","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.jaci.2014.01.032","article-title":"APOe4 is associated with human enhanced in\u00a0vivo innate immune responses in human subjects","volume":"134","author":"Gale","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib22","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/j.jaci.2013.12.1085","article-title":"Bruton's tyrosine kinase mediates TLR9-dependent human dendritic cell activation","volume":"133","author":"Lougaris","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib23","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.jaci.2014.02.013","article-title":"Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment","volume":"133","author":"Zhang","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib24","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.ajhg.2014.05.007","article-title":"PGM3 mutations cause a congenital disorder of glycosylation with severe\u00a0immunodeficiency and skeletal dysplasia","volume":"95","author":"Stray-Pedersen","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2015.02.037_bib25","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1016\/j.jaci.2014.02.025","article-title":"Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels","volume":"133","author":"Sassi","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib26","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1016\/j.jaci.2014.02.034","article-title":"Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency","volume":"133","author":"Salzer","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib27","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib28","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1126\/science.1255904","article-title":"Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4","volume":"345","author":"Kuehn","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.jaci.2015.02.037_bib29","doi-asserted-by":"crossref","first-page":"3923","DOI":"10.1172\/JCI75746","article-title":"A\u00a0human immunodeficiency caused by mutations in the PIK3R1 gene","volume":"124","author":"Deau","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2015.02.037_bib30","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1084\/jem.20141759","article-title":"Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K","volume":"211","author":"Lucas","year":"2014","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib31","doi-asserted-by":"crossref","first-page":"5360","DOI":"10.1038\/ncomms6360","article-title":"Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity","volume":"5","author":"Willmann","year":"2014","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2015.02.037_bib32","doi-asserted-by":"crossref","first-page":"5239","DOI":"10.1172\/JCI77493","article-title":"Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity","volume":"124","author":"Torres","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2015.02.037_bib33","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/nature13386","article-title":"CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation","volume":"510","author":"Martin","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2015.02.037_bib34","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.3069","article-title":"JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia","volume":"46","author":"Boztug","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2015.02.037_bib35","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1056\/NEJMoa1312625","article-title":"Activated STING in a vascular and pulmonary syndrome","volume":"371","author":"Liu","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib36","doi-asserted-by":"crossref","first-page":"2385","DOI":"10.1084\/jem.20141091","article-title":"An inherited mutation in NLRC4 causes autoinflammation in human and mice","volume":"211","author":"Kitamura","year":"2014","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib37","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1038\/ng.3066","article-title":"Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation","volume":"46","author":"Romberg","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2015.02.037_bib38","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1038\/ng.3089","article-title":"An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome","volume":"46","author":"Canna","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2015.02.037_bib39","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1056\/NEJMoa1307361","article-title":"Early-onset stroke and vasculopathy associated with mutations in ADA2","volume":"370","author":"Zhou","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib40","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJMoa1307362","article-title":"Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy","volume":"370","author":"Navon-Elkan","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib41","first-page":"479","article-title":"Mutant ADA2 in vasculopathies","volume":"371","author":"Bras","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib42","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","article-title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2015.02.037_bib43","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1016\/j.jaci.2014.07.019","article-title":"Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome due to tetratricopeptide repeat domain 7A deficiency","volume":"134","author":"Lemoine","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib44","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.jaci.2013.09.032","article-title":"Fatal combined immunodeficiency associated with heterozygous mutation in STAT1","volume":"133","author":"Sharfe","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib45","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1182\/blood-2014-06-578542","article-title":"Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100","volume":"124","author":"Lee","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2015.02.037_bib46","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jaci.2013.12.1093","article-title":"Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKb","volume":"134","author":"Burns","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib47","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.jaci.2014.04.031","article-title":"Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers","volume":"134","author":"Aguilar","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib48","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/j.jaci.2013.10.020","article-title":"Kindlin 3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III","volume":"133","author":"van de Vijver","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib49","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1016\/j.jaci.2013.11.031","article-title":"Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency","volume":"133","author":"Sabry","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib50","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2014.01.041","article-title":"Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency","volume":"134","author":"Chou","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib51","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1016\/j.jaci.2013.10.002","article-title":"Enrichment of the rare CD4+ \u03b3\u03b4 T-cell subset in patients with atypical CD3\u03b4 deficiency","volume":"133","author":"Garcill\u00e1n","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib52","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1182\/blood-2014-03-564930","article-title":"Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia","volume":"124","author":"Serwas","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2015.02.037_bib53","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ni.2771","article-title":"Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110\u03b4 result in T cell senescence and human immunodeficiency","volume":"15","author":"Lucas","year":"2014","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib54","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1016\/j.jaci.2014.04.037","article-title":"Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells","volume":"134","author":"Hadayat","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib55","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1016\/j.jaci.2013.11.038","article-title":"Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1\/2 mutations","volume":"134","author":"Chen","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib56","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.jaci.2014.04.042","article-title":"A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency","volume":"134","author":"Abolhassani","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib57","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/j.jaci.2013.10.021","article-title":"Lesson from hypomorphic recombinant activating gene (RAG) mutations: why asymptomatic siblings should be tested","volume":"133","author":"Schuetz","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib58","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1016\/j.jaci.2013.10.007","article-title":"A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency","volume":"133","author":"Lee","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib59","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/j.jaci.2013.11.028","article-title":"Similar recombination-activating gene (RAG) mutation result in similar immunological effects but in different clinical phenotypes","volume":"133","author":"IJspeert","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib60","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.jaci.2013.08.021","article-title":"Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies","volume":"134","author":"Platt","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib61","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.jaci.2013.08.032","article-title":"Targeted next generation sequencing: A\u00a0novel diagnostic tool for primary immunodeficiencies","volume":"133","author":"Nijman","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib62","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1016\/j.jaci.2014.04.043","article-title":"Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis","volume":"134","author":"Meazza","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib63","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.jaci.2014.02.023","article-title":"Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency","volume":"134","author":"Pai","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib64","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.jaci.2014.04.014","article-title":"Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease","volume":"134","author":"Magnani","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib65","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jaci.2013.12.1077","article-title":"Clinical picture and treatment of 2212 patients with common variable immunodeficiency","volume":"134","author":"Gathmann","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib66","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1016\/j.jaci.2013.10.059","article-title":"Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer cells","volume":"134","author":"Gao","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib67","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.jaci.2013.08.022","article-title":"Tertiary lymphoid neogenesis is a component of pulmonary lymphoid hyperplasia in patients with common variable immunodeficiency","volume":"134","author":"Maglione","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib68","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.jaci.2014.02.020","article-title":"Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase \u03b4 syndrome","volume":"134","author":"Kracker","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib69","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.jaci.2013.07.054","article-title":"A novel mutation in IFN-g receptor 1 presenting as multisystem Mycobacteium intracellulare infection","volume":"134","author":"Rose","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib70","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1016\/j.jaci.2014.03.025","article-title":"Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype","volume":"133","author":"Jing","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib71","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.jaci.2014.01.023","article-title":"A case of partial dedicators of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8+ and natural killer cytotoxicity","volume":"134","author":"Ruiz-Garcia","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib72","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1016\/j.jaci.2014.05.044","article-title":"Gain of function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding","volume":"134","author":"Frans","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib73","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.jaci.2013.08.051","article-title":"Penicillium marneffei infection and impaired IFN\u03b3 immunity in humans with autosomal-dominant gain of phosphorylation STAT1 mutations","volume":"134","author":"Lee","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib74","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.jaci.2014.02.037","article-title":"Gain of function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis","volume":"134","author":"Kumar","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib75","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.jaci.2013.09.033","article-title":"CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiency","volume":"133","author":"Wang","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib76","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1001\/jama.2014.9132","article-title":"Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States","volume":"312","author":"Kwan","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/j.jaci.2015.02.037_bib77","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jaci.2014.01.040","article-title":"Diagnosis of immunodeficiency phosphorylase defect by using tandem mass spectrometry in dried blood spots","volume":"134","author":"La Marca","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib78","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.jaci.2014.04.026","article-title":"Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B cell immunodeficiencies","volume":"134","author":"Borte","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib79","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1016\/j.jaci.2014.06.030","article-title":"Control lymphocyte subset: can one country's values serve for another's?","volume":"134","author":"Mandala","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib80","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.jaci.2013.07.052","article-title":"Primary Immune Deficiency Treatment Consortium (PIDTC) report","volume":"133","author":"Griffiths","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib81","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1016\/j.jaci.2013.09.044","article-title":"Establishing diagnostic criteria for severe combined immunodeficiency (SCID), leaky SCID and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience","volume":"133","author":"Shearer","year":"2014","journal-title":"J Clin Allergy Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib82","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.jaci.2013.10.022","article-title":"Survey on retransplantation criteria for patients with severe combined immunodeficiency","volume":"133","author":"Haddad","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib83","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.jaci.2014.06.021","article-title":"Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency","volume":"134","author":"Dvorak","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib84","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1056\/NEJMoa1401177","article-title":"Transplantation outcomes for severe combined immunodeficiency, 2000-2009","volume":"371","author":"Pai","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib85","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1016\/j.jaci.2014.02.042","article-title":"Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency","volume":"133","author":"Hassan","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib86","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/j.jaci.2014.07.009","article-title":"Severe cutaneous human papilloma virus infection associated with natural killer\u00a0deficiency following stem cell transplantation for severe combined immunodeficiency","volume":"134","author":"Kamili","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib87","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1182\/blood-2013-01-476432","article-title":"SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID","volume":"123","author":"Schuetz","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2015.02.037_bib88","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.jaci.2014.04.041","article-title":"Haploidential T-cell alpha beta receptor and CD19-depleted stem cell transplant for Wiskott Aldrich syndrome","volume":"134","author":"Kharya","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib89","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1016\/j.jaci.2014.05.039","article-title":"Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency","volume":"134","author":"Touzot","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib90","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.jaci.2013.12.1043","article-title":"B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients","volume":"133","author":"Brigida","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib91","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1016\/j.jaci.2013.10.009","article-title":"Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome","volume":"133","author":"Van Til","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib92","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1056\/NEJMoa1404588","article-title":"A modified \u03b3-retrovirus vector for X-linked severe combined immunodeficiency","volume":"371","author":"Hacein-Bey-Abina","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2015.02.037_bib93","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jaci.2013.08.042","article-title":"Intravenous immunoglobulin induces a functional silencing program similar to anergy in human B cells","volume":"133","author":"Seite","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib94","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.jaci.2013.09.029","article-title":"Dendritic\u00a0cell immunoreceptor: a novel receptor for intravenous immunoglobulin mediates induction of regulatory T cells","volume":"133","author":"Massoud","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib95","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.jaci.2013.11.043","article-title":"Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts","volume":"133","author":"Shearer","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib96","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1016\/j.jaci.2014.02.028","article-title":"BCG vaccination in patients with severe combined immunodeficiency: complications, risks and vaccination policies","volume":"133","author":"Marciano","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib97","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1016\/j.jaci.2014.02.008","article-title":"Beneficial IFN-\u03b1 treatment of tumorous blepharoconjunctivitis in dedicator of cytokinesis 8 deficiency","volume":"133","author":"Papan","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib98","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1016\/j.jaci.2014.03.032","article-title":"Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-\u03b12b therapy","volume":"133","author":"Keles","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib99","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1016\/j.jaci.2014.05.040","article-title":"Neutrophils in antiretroviral therapy controlled HIV demonstrate hyperactivation associated with a specific IL-17\/IL-22 environment","volume":"134","author":"Campillo-Gimenez","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib100","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.jaci.2013.10.003","article-title":"Premature immune senescence during HIV-1 vertical infection relates with response to influenza vaccination","volume":"133","author":"Cagigi","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib101","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jaci.2014.04.025","article-title":"Progress in HIV-1 vaccine development","volume":"134","author":"Haynes","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2015.02.037_bib102","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.jaci.2014.05.026","article-title":"Recent developments in the search for a cure for HIV-1 infection: targeting the latent reservoir for HIV-1","volume":"134","author":"Siciliano","year":"2014","journal-title":"J Allergy Clin Immunol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674915003875?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674915003875?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:53:59Z","timestamp":1758790439000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674915003875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5]]},"references-count":102,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["S0091674915003875"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2015.02.037","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2015,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advances in basic and clinical immunology in 2014","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2015.02.037","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}