Updated data of a nation-wide study of clinical phenotypes and TACI mutations in patients with common variable immunodeficiency (CVID).
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1 University of Thessaly School of Health Sciences Faculty of Medicine Department of Immunology-Histocompatibility Οn behalf of the Study Group of Primary Immunodeficiencies of the Hellenic Hematology Association. Updated data of a nation-wide study of clinical phenotypes and TACI mutations in patients with common variable immunodeficiency (CVID). Eirini Sevdali, Androniki Kapousouzi, Evangelia Farmaki, Anna Taparkou, Ioannis Kakkas, George Paterakis, Anastasios E. Germenis, Matthaios Speletas.
2 Common variable immunodeficiency Pan-hypogammaglobulineamia (marked IgG and a marked in at least one of the isotypes IgM or IgA) Onset of immunodeficiency: > 2 years of age Absent isohemagglutinins and/or poor response to vaccines Defined causes of hypogammaglobulinemia have been excluded Clinical phenotypes Recurrent infections mainly of the respiratory and gastrointestinal system Autoimmunity Pulmonary complications Granulomatous disease Gastrointestinal diseases Neoplasia Genetic defects ICOS (2%), CD19 (<1%), TACI (10%), BAFFR (<1%) Other genes: CD20, CD21, CD27, CD81, DNMT3B, ZBTB24, SAP Over 90% of CVID cases have not yet been defined on a molecular basis
3 TACI mediates isotype switching in B-cells Seshasayee et al, 2003 TACI knockout mice: Develop B cell lymphomas due to a B cell hyperplasia Fail to produce efficient T cell independent type II antibody responses Develop autoimmunity and glomerulonephritis Fail to produce class switch recombination to IgA
4 TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. Martinez-Gallo et al, 2013 TNFRSF13B/TACI alterations in Greek patients with antibody deficiencies. Speletas et al, 2011 TACI mutations L69TfsX12 I87N C104R S144X A181E R202H C194X Extracellular domain Transmembrane domain Intracellular domain TACI mutations are also present in healthy individuals
5 Aim A nation-wide record of CVID patients Investigation of the contribution of TACI mutations in CVID pathogenesis in Greece
6 Clinical characteristics of the patients of the study Male/female 24/23 Age of analysis (mean, range) 34.2 (6-70) Delay of diagnosis (mean, range) 9.2 (0-34) Recurrent infections (n, %) 45 (95.7%) Upper respiratory (n, %) 37 (78.7%) Lower respiratory (n, %) 31 (66%) Gastrointestinal (n, %) 9 (19.1%) Urinary (n, %) 8 (17%) Lymphoproliferation (n, %) 26 (55.3%) Autoimmunity (n, %) 22 (46.8) Thyroid disease (n, %) 8 (17%) Diabetes mellitus (n, %) 1 (2.1%) Arthritis (n, %) 2 (4.3%) ITP (n, %) 8 (17%) Splenomegaly (n, %) 19 (40.4%) Lymphadenopathy (n, %) 18 (38.3) Bronchiectasis (n, %) 14 (29.8%) Enteropathy (n, %) 12 (25.5%) Hypersplenism (n, %) 11 (23.4%) Allergy (n, %) 7 (14.9%) Granulomatous disease (n, %) 4 (8.5%) Neoplasia (n, %) 4 (8.5%) Gathmann et al, 2014
7 Recurrent infections Autoimmune manifestations
8 Intronic variants Silent variants Non-synonymous variants Functional TACI mutations in CVID patients N CVID patients Allelic frequency Genotype* Controls of European Origin (NCBI) Allelic frequency C104R /6/ C193X /1/ I87N /1/ P251L /9/ V220A /2/ T27= /24/ S277= /22/ K187= /1/ P97= /1/ g.24625a>c /21/ g.33402g>c /19/ g.33482t>c /20/ *Genotype: homozygous/heterozygous/wild type Speletas et al, 2011
9 p:0.022 C104R and splenomegaly C104R and neoplasia p<0.001
10 Conclusion In our study 14.9% of CVID patients carried a functionally defective TACI mutation Increased prevalence of TACI/C104R in heterozygous state in CVID patients with splenomegaly and neoplasia In previous studies TACI function in human C104R heterozygotes is impaired through haploinsufficiency TACI mutations are also present in healthy individuals Our findings are in accordance with previous studies highlighting the contribution of TACI mutations to a more aggressive CVID phenotype Additional genetic defects are required for the occurrence of the full phenotype of CVID
11 Thank you for your attention!
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