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neutrophil immunodeficiency syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutrophil immunodeficiency syndrome

MONDO:0011988

Also known as:immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis

Overview

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.

GeneticsAutosomal dominant · RAC2 (chr 22)

OnsetNEONATAL, INFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased neutrophil oxidative burst, Rectal abscess, Reduction of neutrophil motility, and Urachal cyst and others; and very common findings: Poor wound healing, Elevated white blood cell count (increased total leukocyte count), Immunodeficiency, and Abnormal neutrophil physiology.

Organ System	Phenotype Count	Example Features
Blood and immune system	8	Decreased neutrophil oxidative burst, Reduction of neutrophil motility, Increased total neutrophil count

Genetic Landscape

RAC2 function has not been fully characterized.

Neutrophil immunodeficiency syndrome has been associated with mutations in the RAC2 gene on chromosome 22.

Diagnosis

Genetic testing for RAC2 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 4 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608203

Orphanet

European rare disease database

Orphanet:183707

GARD

Genetic and Rare Diseases Info Center

GARD:17087

Questions for Your Care Team

→Should I pursue genetic testing for RAC2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neutrophil immunodeficiency syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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