Details of Disease | DrugMAP

General Information of Disease (ID: DISTXP5J)

Disease Name	Neutrophil immunodeficiency syndrome
Synonyms	neutrophil immunodeficiency syndrome; immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis
Definition	A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Disease Hierarchy	DIS225UQ: T-B- severe combined immunodeficiency DISXLK81: Functional neutrophil defect DISTXP5J: Neutrophil immunodeficiency syndrome
Disease Identifiers	MONDO ID MONDO_0011988 MESH ID C564275 UMLS CUI C1842398 OMIM ID 608203 MedGen ID 374920 Orphanet ID 183707 SNOMED CT ID 723443003

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
RAC2	OTAOHFNH	Strong	Autosomal dominant	[1]
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References

1	Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4654-9. doi: 10.1073/pnas.080074897.