Hepatic Venoocclusive Disease with Immunodeficiency

Alternative Names

  • VODI
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of liver

OMIM Number

235550

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q37.1

Description

Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is a primary immunodeficiency characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. The condition has an early onset and it leads to hepatomegaly and liver failure. VODI is caused by homozygous mutation in the SP110 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
235550.1.1LebanonFemaleYes Immunodeficiency; Thrombocytopenia... NM_080424.2:c.642delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'A II.1' in ...
235550.2.1LebanonMaleYes Immunodeficiency... NM_080424.2:c.642delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'B II.1' in ...
235550.2.2LebanonFemaleYes Hepatosplenomegaly; Ascites... NM_080424.2:c.642delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'B II.2' in ...
235550.3.1LebanonFemaleYes Hepatosplenomegaly; Thrombocytopenia; ... NM_080424.2:c.642delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'C II.1' in ...
235550.4LebanonMaleYes Abnormality of the liver ... NM_080424.2:c.642delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'D II.1' in ...
235550.5.1LebanonMaleYes Immunodeficiency; Thrombocytopenia... NM_080424.2:c.40delHomozygousAutosomal, RecessiveRoscioli et al. 2006 Patient 'E II.1' in ...
235550.6PalestineYes NM_080424.4:c.373delHomozygousAutosomal, RecessiveRoscioli et al. 2006 2 similarly affected...
235550.7Lebanon Neonatal respiratory distress; Inapprop... NM_080424.2:c.642delHomozygousAutosomal, RecessiveCliffe et al. 2012
235550.8Lebanon Cough, Chronic; Diarrhea; Hepatospleno... NM_080424.2:c.642delHomozygousAutosomal, RecessiveCliffe et al. 2012

Other Reports

Lebanon

Mellis and Bale (1976) reported three families with five infants with venoocclusive disease with immunodeficiency. In two of these families, the parents were Lebanese and consangunieus. In the third family, the father was Lebanese. 

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