Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative

Alternative Names

SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative

Associated Genes

Janus Kinase 3

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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

600802

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19p13.11

Description

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. [From Orhanet]

Epidemiology in the Arab World

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Lebanon

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
600802.1	Lebanon	Unknown			Failure to thrive; Recurrent infections... Failure to thrive; Recurrent infections; Diarrhea	NM_000215.3:c.2141C>T	Homozygous	Autosomal, Recessive	Nair et al. 2018