Features include very common findings: Low white blood cell count (decreased total leukocyte count), Sepsis, Hearing loss (hearing impairment), and Chronic otitis media and others; and common findings: Failure to thrive, Weight loss, Fever, and Malabsorption. 26 total HPO annotations.

AK2 encodes adenylate kinase 2 (239 aa). Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Highest expression in Cells EBV-transformed lymphocytes (137.5 TPM) and Cells Cultured fibroblasts (72.7 TPM).

Reticular dysgenesis is caused by mutations in the AK2 gene on chromosome 1.

The AK2 protein participates in ADP + ADP AMP + ATP [AK2] and AMP + ATP ADP + ADP [AK2] pathways.

AK2 is classified as a druggable target (Enzyme and Kinase categories) with score 2.9.

Genetic testing for AK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for reticular dysgenesis has been reported in the published literature.

Phenotype severity distribution: 13 very common features, 4 common features.

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

2 clinical trials registered. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

20 publications have been identified in PubMed for reticular dysgenesis. Research spans Epidemiology / Natural History (30%), Case Report / Case Series (25%), and Diagnostic / Biomarker (10%).