Details of Disease

General Information of Disease (ID: DISJFQSY)

• Disease Name: Immunodeficiency 104
• Synonyms: SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive; severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type; IMD104; autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive; autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID
• Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
• Disease Hierarchy:
  DIS8RTG7: Familial severe combined immunodeficiency
  DISFRKM4: T-B+ severe combined immunodeficiency
  DISJFQSY: Immunodeficiency 104
• Disease Identifiers:
  MONDO ID: MONDO_0012163
  UMLS CUI: C5676890
  OMIM ID: 608971
  MedGen ID: 1801019

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
IL7R	TTAWI51	Definitive	Autosomal recessive	[1]
PTPRC	TTUS45N	Definitive	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL7R	OTBMFLQQ	Definitive	Autosomal recessive	[1]
PTPRC	OT6KOR77	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.