Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations

EM Avila, G Uzel, A Hsu, JD Milner, ML Turner… - …, 2010 - publications.aap.org
Hypomorphic mutations that lead to “leaky” severe combined immunodeficiency
presentation with partial protein function are increasingly being identified. Mutations in
recombination-activating genes (RAG s) 1 and 2 cause immunodeficiency and dysregulation
ranging from severe combined immunodeficiency to Omenn syndrome to more mild
immunodeficiencies. We report here the cases of 3 patients with hypomorphic RAG1
mutations with distinct presentations. One patient had granulomatous skin disease and …