T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Associated Genes

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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

601705

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q11.2

Description

This disorder is a type of severe combined immunodeficiency (SCID) that results in an almost complete lack of T cells, coupled with loss of hair and ridged, pitted nails. Affected individuals suffer from recurrent life-threatening infections and fail to thrive. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601705.1.1LebanonFemaleYesYes Erythroderma ; Alopecia ; Immunodefi...NM_003593.2:c.562delHomozygousAutosomal, RecessiveChou et al, 2014 Proband
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