Details of Disease | DrugMAP

General Information of Disease (ID: DISBJ6JY)

Disease Name	Immunodeficiency 88
Synonyms	IMD88; Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency
Definition	An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.
Disease Hierarchy	DIS093I0: Immunodeficiency DISBJ6JY: Immunodeficiency 88
Disease Identifiers	MONDO ID MONDO_0030483 UMLS CUI C5562026 OMIM ID 619630 MedGen ID 1794236

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
TBX21	TTNF9PH	Limited	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
TBX21	OT3UK5KE	Limited	Autosomal recessive	[1]
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References

1	Human T-bet Governs Innate and Innate-like Adaptive IFN- Immunity against Mycobacteria. Cell. 2020 Dec 23;183(7):1826-1847.e31. doi: 10.1016/j.cell.2020.10.046. Epub 2020 Dec 8.