Details of Disease

General Information of Disease (ID: DISZB70D)

• Disease Name: Combined immunodeficiency due to CD3gamma deficiency
• Synonyms: CD3 deficiency; combined immunodeficiency due to CD3gamma deficiency; CD3gamma deficiency; IMD17; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive; immunodeficiency 17, CD3 gamma deficient; CD3-gamma deficiency; immunodeficiency 17; immunodeficiency type 17
• Definition: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
• Disease Hierarchy:
  DISKR6QJ: Combined immunodeficiency
  DISZB70D: Combined immunodeficiency due to CD3gamma deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014276
  UMLS CUI: C3810107
  OMIM ID: 615607
  MedGen ID: 816437
  Orphanet ID: 169082

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD3G	TTV3XPL	Strong	Biomarker	[1]
CD3G	TTV3XPL	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD3G	OTJWHIQG	Definitive	Autosomal recessive	[2]

References

• [1] CD3G gene defects in familial autoimmune thyroiditis.Scand J Immunol. 2014 Nov;80(5):354-61. doi: 10.1111/sji.12200.
• [2] 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.