Severe combined immunodeficiency due to DCLRE1C deficiency- MedGen UID:
- 355454
- •Concept ID:
- C1865370
- •
- Disease or Syndrome
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome- MedGen UID:
- 461506
- •Concept ID:
- C3150156
- •
- Disease or Syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.