Immunodeficiency, Common Variable, 8, with Autoimmunity

Alternative Names

  • CVID8
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

614700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4q31.3

Description

CVID8 is a phenotypically heterogeneous disorder caused by immunological dysfunction.  Immunoglobulin levels are very low in affected individuals.  The disorder is characterized by recurrent bacterial infections, particularly of the respiratory tract; inflammation or infection of the gastrointestinal tract, resulting in frequent bouts of diarrhoea; and an abnormal accumulation of immune cells resulting in lymphadenopathy and splenomegaly.  Patients may also develop auto-immune disorders such as immune thrombocytopenia purpura, autoimmune hemolytic anemia, rheumatoid arthritis or non-Hodgkin’s lymphoma.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614700.1.1LebanonFemaleNoYes Tooth abscess ; Recurrent otitis media ...NM_001199282.2:c.2963delHomozygousAutosomal, RecessiveAlkhairy et al. 2016
614700.2.1Saudi ArabiaMaleYes Protracted diarrhea ; Type I diabetes ...NM_001199282.2:c.2032C>THomozygousAutosomal, RecessiveCharbonnier et al, 2015
614700.3.1LebanonMaleYesYes Recurrent infections ; Immune dysregula...NM_001199282.2:c.865_866delGTHomozygousAutosomal, RecessiveCharbonnier et al, 2015 Proband
614700.3.2LebanonFemaleYesYes Recurrent infections ; Immune dysregula...NM_001199282.2:c.865_866delGTHomozygousAutosomal, RecessiveCharbonnier et al, 2015 Sister of 614700.3.1
614700.4.1Saudi ArabiaFemaleYesYes Recurrent otitis media ; Recurrent pneu...NM_006726.4:c.6657_6658delCTHomozygousAutosomal, RecessiveAlangari et al, 2012
614700.4.2Saudi ArabiaFemaleYesYes Chronic diarrhea ; Inflammation of the ...NM_006726.4:c.6657_6658delCTHomozygousAutosomal, RecessiveAlangari et al, 2012 Sister of 614700.4.1
614700.4.3Saudi ArabiaFemaleYesYes Chronic diarrhea ; Decreased circulatin...NM_006726.4:c.6657_6658delCTHomozygousAutosomal, RecessiveAlangari et al, 2012 Sister of 614700.4.1
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