{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T14:15:34Z","timestamp":1783606534767,"version":"3.55.0"},"reference-count":119,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T00:00:00Z","timestamp":1706832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Centre of Poland","doi-asserted-by":"crossref","award":["2014\/13\/D\/NZ5\/02391"],"award-info":[{"award-number":["2014\/13\/D\/NZ5\/02391"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,23]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Selective IgA deficiency (sIgAD), common variable immunodeficiency (CVID), and transient hypogammaglobulinemia of infancy (THI) are the most frequent forms of primary antibody deficiencies. Difficulties in initial diagnosis, especially in the early childhood, the familiar occurrence of these diseases, as well as the possibility of progression to each other suggest common cellular and molecular patomechanism and a similar genetic background. In this review, we discuss both similarities and differences of these three humoral immunodeficiencies, focusing on current and novel therapeutic approaches. We summarize immunoglobulin substitution, antibiotic prophylaxis, treatment of autoimmune diseases, and other common complications, i.e. cytopenias, gastrointestinal complications, and granulomatous disease. We discuss novel therapeutic approaches such as allogenic stem cell transplantation and therapies targeting-specific proteins, dependent on the patient\u2019s genetic defect. The diversity of possible therapeutics models results from a great heterogeneity of the disease variants, implying the need of personalized medicine approach as a future of primary humoral immunodeficiencies treatment.<\/jats:p>","DOI":"10.1093\/cei\/uxae008","type":"journal-article","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T19:36:50Z","timestamp":1706902610000},"page":"120-131","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and experimental treatment of primary humoral immunodeficiencies"],"prefix":"10.1093","volume":"216","author":[{"given":"Anna","family":"Szaflarska","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College , Wielicka 265, Cracow , Poland"},{"name":"Deparment of Clinical Immunology, University Children\u2019s Hospital , Wielicka 265, Cracow , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-2891","authenticated-orcid":false,"given":"Marzena","family":"Lenart","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College , Wielicka 265, Cracow , Poland"},{"name":"Deparment of Clinical Immunology, University Children\u2019s Hospital , Wielicka 265, Cracow , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0923-7536","authenticated-orcid":false,"given":"Magdalena","family":"Rutkowska-Zapa\u0142a","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College , Wielicka 265, Cracow , Poland"},{"name":"Deparment of Clinical Immunology, University Children\u2019s Hospital , Wielicka 265, Cracow , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Siedlar","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College , Wielicka 265, Cracow , Poland"},{"name":"Deparment of Clinical Immunology, University Children\u2019s Hospital , Wielicka 265, Cracow , Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,2,2]]},"reference":[{"key":"2024043007312545300_CIT0001","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1046\/j.1365-2249.2000.01131.x","article-title":"Selective IgA deficiency (sIgAD) and common variable immunodeficiency (CVID)","volume":"120","author":"Hammarstr\u00f6m","year":"2000","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0002","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1016\/j.jaip.2019.02.004","article-title":"The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity","volume":"7","author":"Seidel","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2024043007312545300_CIT0003","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s10875-009-9357-x","article-title":"Selective IgA deficiency","volume":"30","author":"Yel","year":"2010","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0004","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00431-018-3248-1","article-title":"Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children","volume":"178","author":"Moschese","year":"2019","journal-title":"Eur J Pediatr"},{"key":"2024043007312545300_CIT0005","first-page":"112","article-title":"Autoimmunity in patients with selective IgA deficiency","volume":"25","author":"Abolhassani","year":"2015","journal-title":"J Investig Allergol Clin Immunol"},{"key":"2024043007312545300_CIT0006","first-page":"467","article-title":"Hypogammaglobulinemia and common variable immune deficiency","volume-title":"Stiehm\u2019s Immune Deficiencies Inborn Errors of Immunity","author":"Cunningham-Rundles"},{"key":"2024043007312545300_CIT0007","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":"2024043007312545300_CIT0008","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jaip.2015.07.025","article-title":"International Consensus Document (ICON): common variable immunodeficiency disorders","volume":"4","author":"Bonilla","year":"2016","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2024043007312545300_CIT0009","doi-asserted-by":"crossref","first-page":"869466","DOI":"10.3389\/fimmu.2022.869466","article-title":"Autoimmune cytopenias in common variable immunodeficiency are a diagnostic and therapeutic conundrum: an update","volume":"13","author":"Chawla","year":"2022","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0010","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1513\/AnnalsATS.201511-728OC","article-title":"Clinical predictors of a diagnosis of common variable immunodeficiency-related granulomatous-lymphocytic interstitial lung disease","volume":"13","author":"Mannina","year":"2016","journal-title":"Ann Am Thorac Soc"},{"key":"2024043007312545300_CIT0011","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1046\/j.1365-2249.2002.02004.x","article-title":"Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study","volume":"130","author":"Mellemkjaer","year":"2002","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0012"},{"key":"2024043007312545300_CIT0013","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0889-8561(05)70196-X","article-title":"Hypogammaglobulinemia of infancy","volume":"21","author":"Dalal","year":"2001","journal-title":"Immunol Allergy Clin North Am"},{"key":"2024043007312545300_CIT0014","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/cei.13345","article-title":"Transient hypogammaglobulinaemia of infancy: many patients recover in adolescence and adulthood","volume":"198","author":"Ameratunga","year":"2019","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0015","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1203\/PDR.0b013e3181a7b0a2","article-title":"The B-cell compartment in the peripheral blood of children with different types of primary humoral immunodeficiency","volume":"66","author":"Bukowska-Strakov\u00e1","year":"2009","journal-title":"Pediatr Res"},{"key":"2024043007312545300_CIT0016","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1182\/blood.V99.5.1544","article-title":"Severe deficiency of switched memory B cells (CD27(+)IgM(\u2212)IgD(\u2212)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease","volume":"99","author":"Warnatz","year":"2002","journal-title":"Blood"},{"key":"2024043007312545300_CIT0017","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1159\/000323903","article-title":"Analysis of switched memory B cells in patients with IgA deficiency","volume":"156","author":"Aghamohammadi","year":"2011","journal-title":"Int Arch Allergy Immunol"},{"key":"2024043007312545300_CIT0018","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s10875-012-9655-6","article-title":"B-lymphocyte subpopulations in patients with selective IgA deficiency","volume":"32","author":"Nechvatalova","year":"2012","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0019","first-page":"94","article-title":"B-cell subsets in patients with transient hypogammaglobulinemia of infancy, partial IgA deficiency, and selective IgM deficiency","volume":"23","author":"Cipe","year":"2013","journal-title":"J Investig Allergol Clin Immunol"},{"key":"2024043007312545300_CIT0020","first-page":"237","article-title":"New laboratory findings in Turkish patients with transient hypogammaglobulinemia of infancy","volume":"9","author":"Karaca","year":"2010","journal-title":"Iran J Allergy Asthma Immunol"},{"key":"2024043007312545300_CIT0021","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/bs.ai.2019.01.001","article-title":"Signaling control of antibody isotype switching","volume":"141","author":"Chen","year":"2019","journal-title":"Adv Immunol"},{"key":"2024043007312545300_CIT0022","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/j.1365-2249.2006.02999.x","article-title":"Age dependency and mutual relations in T and B lymphocyte abnormalities in common variable immunodeficiency patients","volume":"143","author":"Vlkov\u00e1","year":"2006","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0023","doi-asserted-by":"crossref","first-page":"e12663","DOI":"10.1111\/sji.12663","article-title":"Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency","volume":"87","author":"Azizi","year":"2018","journal-title":"Scand J Immunol"},{"key":"2024043007312545300_CIT0024","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s10875-009-9351-3","article-title":"Frequency of Treg cells is reduced in CVID patients with autoimmunity and splenomegaly and is associated with expanded CD21lo B lymphocytes","volume":"30","author":"Arumugakani","year":"2010","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0025","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1182\/blood-2007-11-124545","article-title":"Common variable immunodeficiency disorders: division into distinct clinical phenotypes","volume":"112","author":"Chapel","year":"2008","journal-title":"Blood"},{"key":"2024043007312545300_CIT0026","doi-asserted-by":"crossref","first-page":"909","DOI":"10.3389\/fimmu.2018.00909","article-title":"Transitional B cells and TLR9 responses are defective in selective IgA deficiency","volume":"9","author":"Lemarquis","year":"2018","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0027","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.clim.2011.04.003","article-title":"The number of circulating CD4+ CD25high Foxp3+ T lymphocytes is transiently elevated in the early childhood of transient hypogammaglobulinemia of infancy patients","volume":"140","author":"Rutkowska","year":"2011","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0028","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1093\/cei\/uxad116","article-title":"Transcriptome profiling of regulatory T cells from children with transient hypogammaglobulinemia of infancy","volume":"214","author":"Rutkowska-Zapa\u0142a","year":"2023","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0029","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1182\/blood.2019000929","article-title":"Current genetic landscape in common variable immune deficiency","volume":"135","author":"Abolhassani","year":"2020","journal-title":"Blood"},{"key":"2024043007312545300_CIT0030","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1146\/annurev-pathmechdis-031521-024229","article-title":"Common variable immunodeficiency: more pathways than roads to Rome","volume":"18","author":"Peng","year":"2023","journal-title":"Annu Rev Pathol"},{"key":"2024043007312545300_CIT0031","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","article-title":"Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee","volume":"42","author":"Tangye","year":"2022","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0032","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/s12016-019-08738-9","article-title":"Clinical, immunological, and genetic features in patients with activated PI3K\u03b4 syndrome (APDS): a systematic review","volume":"59","author":"Jamee","year":"2020","journal-title":"Clin Rev Allergy Immunol"},{"key":"2024043007312545300_CIT0033","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1016\/j.jaci.2016.07.010","article-title":"Increased PI3K\/Akt activity and deregulated humoral immune response in human PTEN deficiency","volume":"138","author":"Driessen","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0034","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/sj.gene.6364431","article-title":"Novel mutations in a Japanese patient with CD19 deficiency","volume":"8","author":"Kanegane","year":"2007","journal-title":"Genes Immun"},{"key":"2024043007312545300_CIT0035","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1056\/NEJMoa051568","article-title":"An antibody-deficiency syndrome due to mutations in the CD19 gene","volume":"354","author":"van Zelm","year":"2006","journal-title":"N Engl J Med"},{"key":"2024043007312545300_CIT0036","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1172\/JCI39748","article-title":"CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency","volume":"120","author":"van Zelm","year":"2010","journal-title":"J Clin Invest"},{"key":"2024043007312545300_CIT0037","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1172\/JCI40231","article-title":"CD20 deficiency in humans results in impaired T cell-independent antibody responses","volume":"120","author":"Kuijpers","year":"2010","journal-title":"J Clin Invest"},{"key":"2024043007312545300_CIT0038","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.jaci.2011.09.027","article-title":"Genetic CD21 deficiency is associated with hypogammaglobulinemia","volume":"129","author":"Thiel","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0039","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/ng1600","article-title":"Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans","volume":"37","author":"Salzer","year":"2005","journal-title":"Nat Genet"},{"key":"2024043007312545300_CIT0040","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/ng1601","article-title":"TACI is mutant in common variable immunodeficiency and IgA deficiency","volume":"37","author":"Castigli","year":"2005","journal-title":"Nat Genet"},{"key":"2024043007312545300_CIT0041","doi-asserted-by":"crossref","first-page":"13945","DOI":"10.1073\/pnas.0903543106","article-title":"B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans","volume":"106","author":"Warnatz","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024043007312545300_CIT0042","doi-asserted-by":"crossref","first-page":"5127","DOI":"10.1073\/pnas.1221211110","article-title":"Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK","volume":"110","author":"Wang","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024043007312545300_CIT0043","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":"2024043007312545300_CIT0044","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/j.jaci.2019.11.051","article-title":"Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations","volume":"146","author":"Lorenzini","year":"2020","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0045","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3389\/fped.2019.00303","article-title":"Novel heterozygous mutation in NFKB2 is associated with early onset CVID and a functional defect in NK cells complicated by disseminated CMV infection and severe nephrotic syndrome","volume":"7","author":"Aird","year":"2019","journal-title":"Front Pediatr"},{"key":"2024043007312545300_CIT0046","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1056\/NEJMoa1512234","article-title":"Loss of B cells in patients with heterozygous mutations in IKAROS","volume":"374","author":"Kuehn","year":"2016","journal-title":"N Engl J Med"},{"key":"2024043007312545300_CIT0047","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1002\/pbc.23160","article-title":"Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene","volume":"58","author":"Goldman","year":"2012","journal-title":"Pediatr Blood Cancer"},{"key":"2024043007312545300_CIT0048","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.jaci.2016.01.018","article-title":"Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder","volume":"138","author":"Keller","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0049","doi-asserted-by":"crossref","first-page":"11600","DOI":"10.1038\/ncomms11600","article-title":"ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation","volume":"7","author":"Jansen","year":"2016","journal-title":"Nat Commun"},{"key":"2024043007312545300_CIT0050","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1172\/JCI120572","article-title":"Loss of ARHGEF1 causes a human primary antibody deficiency","volume":"129","author":"Bouafia","year":"2019","journal-title":"J Clin Invest"},{"key":"2024043007312545300_CIT0051","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1084\/jem.20170534","article-title":"Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency","volume":"215","author":"Keller","year":"2018","journal-title":"J Exp Med"},{"key":"2024043007312545300_CIT0052","doi-asserted-by":"crossref","first-page":"108930","DOI":"10.1016\/j.clim.2022.108930","article-title":"Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia","volume":"235","author":"Almutairi","year":"2022","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0053","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/j.jaci.2017.06.042","article-title":"Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)","volume":"141","author":"Schubert","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0054","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.clim.2019.05.003","article-title":"Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections","volume":"205","author":"Sharapova","year":"2019","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0055","doi-asserted-by":"crossref","first-page":"1744","DOI":"10.1086\/302948","article-title":"A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency","volume":"66","author":"De Praeter","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2024043007312545300_CIT0056","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.3324\/haematol.2019.231399","article-title":"Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation","volume":"105","author":"Thian","year":"2020","journal-title":"Haematologica"},{"key":"2024043007312545300_CIT0057","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1016\/j.jaci.2021.01.027","article-title":"Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1","volume":"147","author":"Kury","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0058","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/j.jaci.2021.04.039","article-title":"Therapeutic options for CTLA-4 insufficiency","volume":"149","author":"Egg","year":"2022","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0059","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.jaci.2016.08.042","article-title":"Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis","volume":"139","author":"Navarini","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0060","doi-asserted-by":"crossref","first-page":"2790","DOI":"10.1016\/j.jaip.2019.06.011","article-title":"Abatacept as a long-term targeted therapy for LRBA deficiency","volume":"7","author":"Kiykim","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2024043007312545300_CIT0061","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1423-0410.1976.tb02811.x","article-title":"Familial clustering of selective IgA deficiency","volume":"30","author":"Koistinen","year":"1976","journal-title":"Vox Sang"},{"key":"2024043007312545300_CIT0062","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1006\/clin.1995.1142","article-title":"Family and linkage study of selective IgA deficiency and common variable immunodeficiency","volume":"77","author":"Vorechovsk\u00fd","year":"1995","journal-title":"Clin Immunol Immunopathol"},{"key":"2024043007312545300_CIT0063","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0025-6196(12)65643-2","article-title":"Evidence for linkage of IgA deficiency with the major histocompatibility complex","volume":"63","author":"Lakhanpal","year":"1988","journal-title":"Mayo Clin Proc"},{"key":"2024043007312545300_CIT0064","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1007\/s10875-009-9336-2","article-title":"IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype","volume":"30","author":"Mohammadi","year":"2010","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0065","doi-asserted-by":"crossref","first-page":"e1002476","DOI":"10.1371\/journal.pgen.1002476","article-title":"High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency","volume":"8","author":"Ferreira","year":"2012","journal-title":"PLoS Genet"},{"key":"2024043007312545300_CIT0066","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1097\/ACI.0b013e3283594219","article-title":"IgA deficiency: what is new","volume":"12","author":"Wang","year":"2012","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0067","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1038\/ng.3675","article-title":"Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency","volume":"48","author":"Bronson","year":"2016","journal-title":"Nat Genet"},{"key":"2024043007312545300_CIT0068","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/gene.2008.89","article-title":"The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency","volume":"10","author":"Haimila","year":"2009","journal-title":"Genes Immun"},{"key":"2024043007312545300_CIT0069","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.clim.2010.06.012","article-title":"Impact of trough IgG on pneumonia incidence in primary immunodeficiency: a meta-analysis of clinical studies","volume":"137","author":"Orange","year":"2010","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0070","doi-asserted-by":"crossref","first-page":"S84","DOI":"10.1007\/s10875-010-9400-y","article-title":"Immunomodulatory therapy to achieve maximum efficacy: doses, monitoring, compliance, and self-infusion at home","volume":"30","author":"Lucas","year":"2010","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0071","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1182\/hematology.2019002062","article-title":"Common variable immune deficiency: case studies","volume":"2019","author":"Cunningham-Rundles","year":"2019","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"2024043007312545300_CIT0072","doi-asserted-by":"crossref","first-page":"83","DOI":"10.5114\/ceji.2015.50838","article-title":"Thrombocytopenia in common variable immunodeficiency patients - clinical course, management, and effect of immunoglobulins","volume":"40","author":"Pituch-Noworolska","year":"2015","journal-title":"Cent Eur J Immunol"},{"key":"2024043007312545300_CIT0073","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/s10875-016-0282-5","article-title":"Use of thrombopoietin-receptor agonist in CVID-associated immune thrombocytopenia","volume":"36","author":"Carrabba","year":"2016","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0074","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/cei.12039","article-title":"Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients","volume":"172","author":"Wong","year":"2013","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0075","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1111\/j.1365-2141.2011.08880.x","article-title":"Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients","volume":"155","author":"Gobert","year":"2011","journal-title":"Br J Haematol"},{"key":"2024043007312545300_CIT0076","doi-asserted-by":"crossref","first-page":"e110","DOI":"10.1097\/MPH.0000000000001325","article-title":"Successful treatment of an adolescent male with severe refractory Evans syndrome using bortezomib-based therapy","volume":"42","author":"Knight","year":"2020","journal-title":"J Pediatr Hematol Oncol"},{"key":"2024043007312545300_CIT0077","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s10875-018-0477-z","article-title":"Reversible suppression of lymphoproliferation and thrombocytopenia with rapamycin in a patient with common variable immunodeficiency","volume":"38","author":"Deenick","year":"2018","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0078","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/cei.13600","article-title":"Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review","volume":"205","author":"Jamee","year":"2021","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0079","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.clim.2009.10.002","article-title":"Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID)","volume":"134","author":"Park","year":"2010","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0080","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.jaci.2004.05.057","article-title":"Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency","volume":"114","author":"Bates","year":"2004","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0081","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1016\/j.jaip.2015.07.004","article-title":"Progression of common variable immunodeficiency interstitial lung disease accompanies distinct pulmonary and laboratory findings","volume":"3","author":"Maglione","year":"2015","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2024043007312545300_CIT0082","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1016\/j.jaci.2020.07.021","article-title":"Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency","volume":"147","author":"Verbsky","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0083","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.coph.2008.01.010","article-title":"Macrolides as immunomodulatory medications for the therapy of chronic lung diseases","volume":"8","author":"L\u00f3pez-Boado","year":"2008","journal-title":"Curr Opin Pharmacol"},{"key":"2024043007312545300_CIT0084","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.jaip.2020.10.028","article-title":"Abatacept use is associated with steroid dose reduction and improvement in fatigue and CD4-dysregulation in CVID patients with interstitial lung disease","volume":"9","author":"von Spee-Mayer","year":"2021","journal-title":"J Allergy Clin Immunol Pract"},{"key":"2024043007312545300_CIT0085","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/pai.12890","article-title":"Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells","volume":"29","author":"Dey\u00e0-Mart\u00ednez","year":"2018","journal-title":"Pediatr Allergy Immunol"},{"key":"2024043007312545300_CIT0086","doi-asserted-by":"crossref","first-page":"658e64","DOI":"10.1016\/j.jaci.2009.06.018","article-title":"Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes","volume":"124","author":"Agarwal","year":"2009","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0087","doi-asserted-by":"crossref","first-page":"299","DOI":"10.4321\/S1130-01082013000500010","article-title":"Crohn\u2019s-like disease in a patient with common variable immunodeficiency treated with azathioprine and adalimumab","volume":"105","author":"V\u00e1zquez-Mor\u00f3n","year":"2013","journal-title":"Rev Esp Enferm Dig"},{"key":"2024043007312545300_CIT0088","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1186\/1756-0500-7-382","article-title":"Infliximab therapy for Crohn\u2019s-like disease in common variable immunodeficiency complicated by massive intestinal hemorrhage: a case report","volume":"7","author":"Akazawa","year":"2014 22","journal-title":"BMC Res Notes"},{"key":"2024043007312545300_CIT0089","doi-asserted-by":"crossref","first-page":"e00721","DOI":"10.14309\/crj.0000000000000721","article-title":"Vedolizumab therapy in refractory enteropathy associated with CVID","volume":"9","author":"Johnson","year":"2021","journal-title":"ACG Case Rep J"},{"key":"2024043007312545300_CIT0090","doi-asserted-by":"crossref","first-page":"997","DOI":"10.2147\/JAA.S418996","article-title":"Chronic diarrhea with villous blunting of the small intestine under capsule endoscopy in common variable immunodeficiency and X-linked agammaglobulinemia: a case series","volume":"16","author":"Deng","year":"2023","journal-title":"J Asthma Allergy"},{"key":"2024043007312545300_CIT0091","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1093\/ecco-jcc\/jjx024","article-title":"Successful treatment of common variable immunodeficiency-associated inflammatory bowel disease with ustekinumab","volume":"11","author":"Ruiz de Morales","year":"2017","journal-title":"J Crohns Colitis"},{"key":"2024043007312545300_CIT0092","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1080\/1744666X.2021.2008241","article-title":"Gut inflammation in CVID: causes and consequences","volume":"18","author":"Andersen","year":"2022","journal-title":"Expert Rev Clin Immunol"},{"key":"2024043007312545300_CIT0093","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/s41598-018-35367-7","article-title":"Rifaximin alters gut microbiota profile, but does not affect systemic inflammation - a randomized controlled trial in common variable immunodeficiency","volume":"9","author":"J\u00f8rgensen","year":"2019","journal-title":"Sci Rep"},{"key":"2024043007312545300_CIT0094","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/lt.24979","article-title":"Liver transplantation in adults with liver disease due to common variable immunodeficiency leads to early recurrent disease and poor outcome","volume":"24","author":"Azzu","year":"2018","journal-title":"Liver Transpl"},{"key":"2024043007312545300_CIT0095","doi-asserted-by":"crossref","first-page":"338","DOI":"10.3389\/fimmu.2020.00338","article-title":"Heterogeneity of liver disease in common variable immunodeficiency disorders","volume":"11","author":"Pecoraro","year":"2020","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0096","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1016\/j.jaci.2014.11.029","article-title":"Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency","volume":"135","author":"Wehr","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0097","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.3389\/fimmu.2020.01317","article-title":"Autologous stem cell transplantation in common variable immunodeficiency: a case of successful treatment of severe refractory autoimmune encephalitis","volume":"11","author":"Froehlich","year":"2020","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0098","doi-asserted-by":"crossref","first-page":"5705","DOI":"10.3390\/jcm11195705","article-title":"The allergic phenotype of children and adolescents with selective IgA deficiency: a longitudinal monocentric study","volume":"11","author":"Cinicola","year":"2022","journal-title":"J Clin Med"},{"key":"2024043007312545300_CIT0099","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s12016-019-08756-7","article-title":"The epidemiology and clinical manifestations of autoimmunity in selective IgA deficiency","volume":"58","author":"Odineal","year":"2020","journal-title":"Clin Rev Allergy Immunol"},{"key":"2024043007312545300_CIT0100","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1177\/039463200802100211","article-title":"A prospective study on children with initial diagnosis of transient hypogammaglobulinemia of infancy: results from the Italian Primary Immunodeficiency Network","volume":"21","author":"Moschese","year":"2008","journal-title":"Int J Immunopathol Pharmacol"},{"key":"2024043007312545300_CIT0101","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/S0022-3476(98)70195-7","article-title":"The outcome of patients with hypogammaglobulinemia in infancy and early childhood","volume":"133","author":"Dalal","year":"1998","journal-title":"J Pediatr"},{"key":"2024043007312545300_CIT0102","doi-asserted-by":"crossref","first-page":"606389","DOI":"10.3389\/fimmu.2020.606389","article-title":"What works when treating granulomatous disease in genetically undefined CVID? A systematic review","volume":"11","author":"van Stigt","year":"2020","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0103","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.jaci.2006.01.034","article-title":"Etanercept treatment of cutaneous granulomas in common variable immunodeficiency","volume":"117","author":"Lin","year":"2006","journal-title":"J Allergy Clin Immunol"},{"key":"2024043007312545300_CIT0104","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s10875-014-0079-3","article-title":"Infliximab for treatment of granulomatous disease in patients with common variable immunodeficiency","volume":"34","author":"Franxman","year":"2014","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0105","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1111\/j.1365-2249.2007.03481.x","article-title":"Anti-tumour necrosis factor-alpha therapy for severe enteropathy in patients with common variable immunodeficiency (CVID)","volume":"150","author":"Chua","year":"2007","journal-title":"Clin Exp Immunol"},{"key":"2024043007312545300_CIT0106","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1007\/s10875-012-9778-9","article-title":"Granulomatous disease in CVID: retrospective analysis of clinical characteristics and treatment efficacy in a cohort of 59 patients","volume":"33","author":"Boursiquot","year":"2013","journal-title":"J Clin Immunol"},{"key":"2024043007312545300_CIT0107","doi-asserted-by":"crossref","first-page":"915986","DOI":"10.3389\/fimmu.2022.915986","article-title":"Case report: cellular therapy for hydroa vacciniforme-like lymphoproliferative disorder in pediatric common variable immunodeficiency with chronic active Epstein-Barr virus infection","volume":"13","author":"Grze\u015bk","year":"2022","journal-title":"Front Immunol"},{"key":"2024043007312545300_CIT0108","doi-asserted-by":"crossref","first-page":"108362","DOI":"10.1016\/j.clim.2020.108362","article-title":"Vedolizumab therapy in common variable immune deficiency associated enteropathy: a case series","volume":"212","author":"Sifers","year":"2020","journal-title":"Clin Immunol"},{"key":"2024043007312545300_CIT0109","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1001\/jamadermatol.2022.2909","article-title":"Drug survival associated with effectiveness and safety of treatment with guselkumab, ixekizumab, secukinumab, ustekinumab, and adalimumab in patients with psoriasis","volume":"158","author":"Yiu","year":"2022","journal-title":"JAMA Dermatol"},{"key":"2024043007312545300_CIT0110","doi-asserted-by":"crossref","first-page":"100653","DOI":"10.1016\/j.trre.2021.100653","article-title":"Belatacept rescue therapy of CNI-induced nephrotoxicity, meta-analysis","volume":"35","author":"El Hennawy","year":"2021","journal-title":"Transplant Rev (Orlando)."},{"key":"2024043007312545300_CIT0111","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1182\/blood.2019002289","article-title":"Emapalumab for the treatment of relapsed\/refractory hemophagocytic lymphohistiocytosis","volume":"134","author":"Vallurupalli","year":"2019","journal-title":"Blood"},{"key":"2024043007312545300_CIT0112","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1007\/s40265-017-0835-9","article-title":"Tofacitinib: a review in rheumatoid arthritis","volume":"77","author":"Dhillon","year":"2017","journal-title":"Drugs"},{"key":"2024043007312545300_CIT0113","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1080\/1744666X.2018.1512404","article-title":"Tofacitinib for the treatment of psoriasis and psoriatic arthritis","volume":"14","author":"Berekmeri","year":"2018","journal-title":"Expert Rev Clin Immunol"},{"key":"2024043007312545300_CIT0114","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.gastrohep.2020.04.012","article-title":"Pharmacology and safety of tofacitinib in ulcerative colitis","volume":"44","author":"L\u00f3pez-Sanrom\u00e1n","year":"2021","journal-title":"Gastroenterol Hepatol"},{"key":"2024043007312545300_CIT0115","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1080\/16078454.2021.2009645","article-title":"Updated recommendations on the use of ruxolitinib for the treatment of myelofibrosis","volume":"27","author":"Devos","year":"2022","journal-title":"Hematology"},{"key":"2024043007312545300_CIT0116","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1007\/s40265-023-01895-4","article-title":"Leniolisib: first approval","volume":"83","author":"Duggan","year":"2023","journal-title":"Drugs"},{"key":"2024043007312545300_CIT0117","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1080\/1744666X.2023.2198208","article-title":"Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives","volume":"19","author":"Fevang","year":"2023","journal-title":"Expert Rev Clin Immunol"},{"key":"2024043007312545300_CIT0118","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1177\/0897190020969286","article-title":"The role of the pharmacist in optimizing outcomes with roflumilast, a PDE4 inhibitor for the treatment of COPD","volume":"35","author":"Williams","year":"2022","journal-title":"J Pharm Pract"},{"key":"2024043007312545300_CIT0119","doi-asserted-by":"crossref","first-page":"101782","DOI":"10.1016\/j.clinre.2021.101782","article-title":"Larazotide acetate for treatment of celiac disease: a systematic review and meta-analysis of randomized controlled trials","volume":"46","author":"Hoilat","year":"2022","journal-title":"Clin Res Hepatol Gastroenterol"}],"container-title":["Clinical and Experimental Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/cei\/advance-article-pdf\/doi\/10.1093\/cei\/uxae008\/56752941\/uxae008.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/216\/2\/120\/57357372\/uxae008.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/cei\/article-pdf\/216\/2\/120\/57357372\/uxae008.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,9]],"date-time":"2024-11-09T18:44:40Z","timestamp":1731177880000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/cei\/article\/216\/2\/120\/7597262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,2]]},"references-count":119,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,2]]},"published-print":{"date-parts":[[2024,4,23]]}},"URL":"https:\/\/doi.org\/10.1093\/cei\/uxae008","relation":{},"ISSN":["0009-9104","1365-2249"],"issn-type":[{"value":"0009-9104","type":"print"},{"value":"1365-2249","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,5,1]]},"published":{"date-parts":[[2024,2,2]]}}}