A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may ""leak"" through into the peripheral blood affecting proper measurement. [from NCI]
- MedGen UID:
- 1791958
- •Concept ID:
- C5555517
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews