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Severe combined immunodeficiency

Disease definition

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.

ORPHA:183660

  • Synonym(s):
    • SCID
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.0  D81.1  D81.2  D81.3  D81.9
  • OMIM: -
  • UMLS: C0085110
  • MeSH: D016511
  • GARD: 7628
  • MedDRA: 10069566
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