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T-B+ severe combined immunodeficiency due to gamma chain deficiency

Disease definition

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.

ORPHA:276

  • Synonym(s):
    • SCIDX1
    • T-B+ SCID due to gamma chain deficiency
    • T-B+ severe combined immunodeficiency, X-linked
  • Prevalence: 1-9 / 100 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: D81.2
  • OMIM: 300400
  • UMLS: C2931540
  • MeSH: -
  • GARD: 5618
  • MedDRA: -

Additional information

Specialised Social Services

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