Details of Disease

General Information of Disease (ID: DIS9LM1Z)

• Disease Name: Immunodeficiency 18
• Synonyms: immunodeficiency 18; IMD18; CD3-Epsilon deficiency; immunodeficiency 18, SCID variant; immunodeficiency 18, Severe combined immunodeficiency variant; immunodeficiency type 18
• Definition: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DISPUD3N: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
  DIS9LM1Z: Immunodeficiency 18
• Disease Identifiers:
  MONDO ID: MONDO_0014278
  UMLS CUI: C3810127
  OMIM ID: 615615
  MedGen ID: 816457

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD3G	TTV3XPL	Disputed	Biomarker	[1]
CD3E	TTZAT79	Strong	Genetic Variation	[2]
CD3E	TTZAT79	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD3E	OT13LE5J	Definitive	Autosomal recessive	[3]

References

• [1] CD3 delta immunodeficiency.Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):479-84. doi: 10.1097/00130832-200412000-00002.
• [2] Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004 Nov;114(10):1512-7. doi: 10.1172/JCI22588.
• [3] 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.