Details of Disease

General Information of Disease (ID: DISLFNN7)

• Disease Name: Immunodeficiency 19
• Synonyms: severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive; CD3-Delta deficiency; SCID, T cell-negative, B cell-positive, NK cell-positive; IMD19; CD3D severe combined immunodeficiency (disease); CD3D; severe combined immunodeficiency (disease) caused by mutation in CD3D; immunodeficiency type 19; CD3delta deficiency; immunodeficiency 19
• Definition: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.
• Disease Hierarchy:
  DIS6MF4Q: Severe combined immunodeficiency
  DIS8RTG7: Familial severe combined immunodeficiency
  DISPUD3N: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
  DISLFNN7: Immunodeficiency 19
• Disease Identifiers:
  MONDO ID: MONDO_0014280
  UMLS CUI: C3810147
  OMIM ID: 615617
  MedGen ID: 816477

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD3D	OTRBLP0R	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.