Features include always present findings: Decreased total T cell count, Decreased total B cell count, Decreased CD4+ T cell proportion, and Decreased total lymphocyte count and others; and common findings: Bronchiectasis, Nasal polyposis, Recurrent sinusitis, and Recurrent shingles and others. 14 total HPO annotations.

UNC119 function has not been fully characterized.

Idiopathic CD4 lymphocytopenia is associated with mutations in the UNC119 gene on chromosome 17.

Genetic testing for UNC119 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for idiopathic CD4 lymphocytopenia has been reported in the published literature.

No approved treatments are currently available for idiopathic CD4 lymphocytopenia. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for idiopathic CD4 lymphocytopenia, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for idiopathic CD4 lymphocytopenia. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Phenotype severity distribution: 5 always present features, 7 common features.

Estimated prevalence: Unknown (Unknown prevalence).

3 clinical trials registered, 3 recruiting. Interventions under study include drug therapy and biologic therapy. Pipeline includes 1 PHASE2, 2 PHASE1. Research is primarily sponsored by academic and government institutions.

124 publications have been identified in PubMed for idiopathic CD4 lymphocytopenia. Research spans Epidemiology / Natural History (28%), Review / Meta-Analysis (27%), and Basic Science / Preclinical (23%).