Details of Disease | DrugMAP

General Information of Disease (ID: DIS3NZSE)

Disease Name	Immunodeficiency 98 with autoinflammation, X-linked
Synonyms	IMD98; X-linked immunodeficiency with autoinflammation; inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8; immunodeficiency 98 with autoinflammation, X-linked
Definition	An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.
Disease Hierarchy	DIS093I0: Immunodeficiency DIS3NZSE: Immunodeficiency 98 with autoinflammation, X-linked
Disease Identifiers	MONDO ID MONDO_0024777 UMLS CUI C5676883 OMIM ID 301078 MedGen ID 1805285

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
TLR8	TT8CWFK	Limited	Unknown	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TLR8	OTEJRL9C	Limited	Unknown	[1]
------------------------------------------------------------------------------------

References

1	Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620.