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Immunodeficiency by defective expression of MHC class I

Disease definition

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.

ORPHA:34592

Classification level: Disorder
  • Synonym(s):
    • Bare lymphocyte syndrome type 1
    • MHC class I deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D81.6
  • OMIM: 241600  604571
  • UMLS: C1858266
  • MeSH: -
  • GARD: 8427
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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