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T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

Disease definition

A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients.


Classification level: Disorder
  • Synonym(s):
    • T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: D81.2
  • ICD-11: 4A01.10
  • OMIM: 610163  615615  615617
  • UMLS: C5679578
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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