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Severe combined immunodeficiency due to LCK deficiency

Disease definition

A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.

ORPHA:280142

Classification level: Disorder
  • Synonym(s):
    • SCID due to LCK deficiency
    • SCID due to lymphocyte-specific protein tyrosine kinase deficiency
    • Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • OMIM: 615758
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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