Details of Disease | DrugMAP

General Information of Disease (ID: DISYW6N0)

Disease Name	Immunodeficiency 82 with systemic inflammation
Synonyms	immunodeficiency with systemic inflammation; IMD82; immunodeficiency 82 with systemic inflammation
Definition	A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.
Disease Hierarchy	DIS093I0: Immunodeficiency DISYW6N0: Immunodeficiency 82 with systemic inflammation
Disease Identifiers	MONDO ID MONDO_0030308 UMLS CUI C5543581 OMIM ID 619381 MedGen ID 1781752

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
SYK	TT2HUPM	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYK	OTQID87L	Strong	Autosomal dominant	[1]
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References

1	Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29.