Details of Disease | DrugMAP

General Information of Disease (ID: DIS8J76W)

Disease Name	Severe combined immunodeficiency due to CARMIL2 deficiency
Synonyms	IMD58; immunodeficiency 58
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS6MF4Q: Severe combined immunodeficiency DIS8J76W: Severe combined immunodeficiency due to CARMIL2 deficiency
Disease Identifiers	MONDO ID MONDO_0029134 UMLS CUI C4748304 OMIM ID 618131 MedGen ID 1648422 Orphanet ID 542301

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CARMIL2	OTV5S1J2	Strong	Autosomal recessive	[1]
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References

1	Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. J Exp Med. 2016 Oct 17;213(11):2413-2435. doi: 10.1084/jem.20160576. Epub 2016 Sep 19.