Immunodeficiency 15B

Alternative Names

  • IMD15B
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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

615592

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p11.21

Description

Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615592.1United Arab EmiratesUnknown Failure to thrive; Recurrent infectionsNM_001556.3:c.849G>AHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Two deceased sibling...
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