Immunodeficiency 12

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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

615468

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.32

Description

Autosomal recessive combined immunodeficiency is characetrized by recurrent infections in the presence of normal numbers of T and B lymphocytes, but defective cellular and humoral immunity. IMD12 is caused due to mutations in the MALT1 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615468.1.1LebanonFemaleYesYes Recurrent pneumonia; Bronchiectasis; E...NM_006785.3:c.266G>THomozygousAutosomal, RecessiveJabara et al, 2013
615468.1.2LebanonMaleYesYes Recurrent pneumonia; Bronchiectasis; E...NM_006785.3:c.266G>THomozygousAutosomal, RecessiveJabara et al, 2013 Sibling of 615468.1....
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