Details of Disease | DrugMAP

General Information of Disease (ID: DISIXVJR)

Disease Name	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Synonyms	interleukin-7 receptor alpha deficiency; T-B+ SCID due to IL-7Ralpha deficiency; IL-7Ralpha deficiency; IL-7R
Definition	A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISFRKM4: T-B+ severe combined immunodeficiency DISIXVJR: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Disease Identifiers	MONDO ID MONDO_0015701 UMLS CUI C5679577 MedGen ID 1842915 Orphanet ID 169154

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL7R	TTAWI51	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL7R	OTBMFLQQ	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.