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Severe combined immunodeficiency due to LAT deficiency

Disease definition

A rare severe combined immunodeficiency characterized by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, hematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly.

ORPHA:504523

Classification level: Disorder
  • Synonym(s):
    • SCID due to LAT deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: D81.2
  • OMIM: 617514
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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