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

Rare Disease

immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

MONDO:0033554

Also known as:IMD73B

Overview

GeneticsAutosomal dominant · RAC2 (chr 22)

OnsetINFANTILE, CONGENITAL, ADULT

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: Recurrent lower respiratory tract infections, Decreased total lymphocyte count, Chronic pulmonary obstruction, and Impaired neutrophil chemotaxis and others; and common findings: Lymphadenitis, Abnormally low T cell receptor excision circle level, Sepsis, and Recurrent pneumonia and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	7

Genetic Landscape

RAC2 function has not been fully characterized.

Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia is strongly associated with mutations in the RAC2 gene on chromosome 22.

Diagnosis

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

Prognosis

Phenotype severity distribution: 15 always present features, 11 common features.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618986

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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immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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