Details of Disease | DrugMAP

General Information of Disease (ID: DISIV7MN)

Disease Name	Immunodeficiency due to CD25 deficiency
Synonyms	IMD41; immunodeficiency 41 with lymphoproliferation and autoimmunity; IL2RA deficiency; CD25 deficiency; Interleukin 2 receptor, alpha, deficiency of; immunodeficiency due to CD25 deficiency; Interleukin-2 receptor alpha chain deficiency
Disease Hierarchy	DIS093I0: Immunodeficiency DISIV7MN: Immunodeficiency due to CD25 deficiency
Disease Identifiers	MONDO ID MONDO_0011664 MESH ID C565232 UMLS CUI C1853392 OMIM ID 606367 MedGen ID 377894 Orphanet ID 169100

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
IL2RA	TT10Y9E	Strong	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
IL2RA	OT0MWCHG	Strong	Autosomal recessive	[1]
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References

1	CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol. 2007 Feb;119(2):482-7. doi: 10.1016/j.jaci.2006.10.007. Epub 2006 Dec 27.