Details of Disease | DrugMAP

General Information of Disease (ID: DISOYO9P)

Disease Name	Immunodeficiency 102
Synonyms	IMD102; X-linked CID due to SASH3 deficiency; immunodeficiency 102; X-linked combined immunodeficiency due to SASH3 deficiency; SASH3 deficiency
Definition	An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.
Disease Hierarchy	DIS093I0: Immunodeficiency DISOYO9P: Immunodeficiency 102
Disease Identifiers	MONDO ID MONDO_0024781 UMLS CUI C5676886 OMIM ID 301082 MedGen ID 1812534

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
SASH3	OT0XGQ93	Strong	X-linked	[1]
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References

1	The orphan adapter protein SLY1 as a novel anti-apoptotic protein required for thymocyte development. BMC Immunol. 2009 Jul 15;10:38. doi: 10.1186/1471-2172-10-38.