Severe Combined Immunodeficiency, X-Linked

Alternative Names

  • SCIDX1
  • Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
  • SCIDX
  • XSCID
  • SCID, X-Linked
  • Immunodeficiency 4
  • IMD4
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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

300400

Mode of Inheritance

X-linked Recessive

Gene Map Locus

Xq13.1

Description

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive [From Orphanet]. 

 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300400.1United Arab EmiratesMaleNoNo tender; hepatosplenomegaly; scarring; ... NM_000206.2:c.820_823dupHemizygousX-linked, RecessiveYahya et al. 2021 The patient exhibite...
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