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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

MONDO:0033555

Also known as:IMD73C

Overview

GeneticsAutosomal recessive · RAC2 (chr 22)

OnsetJUVENILE, 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 circulating total IgM, Recurrent respiratory infections, Decreased total B cell count, and Abnormally low T cell receptor excision circle level and others; and common findings: Failure to thrive in infancy and Urticaria. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Failure to thrive in infancy

Genetic Landscape

RAC2 function has not been fully characterized.

Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 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: 5 always present features, 2 common features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618987

GARD

Genetic and Rare Diseases Info Center

GARD:18300

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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