Details of Disease | DrugMAP

General Information of Disease (ID: DISR08MK)

Disease Name	Immunodeficiency 92
Synonyms	IMD92; immunodeficiency due to REL deficiency
Definition	An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.
Disease Hierarchy	DIS093I0: Immunodeficiency DISR08MK: Immunodeficiency 92
Disease Identifiers	MONDO ID MONDO_0030498 UMLS CUI C5562039 OMIM ID 619652 MedGen ID 1794249

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
REL	TT1ZCTH	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
REL	OTTCKMAC	Strong	Autosomal recessive	[1]
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References

1	Combined immunodeficiency in a patient with c-Rel deficiency. J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4. doi: 10.1016/j.jaci.2019.05.003. Epub 2019 May 16.