Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

[omenn syndrome]

Hypomorphic mutations that lead to "leaky " severe combined immunodeficiency presentation with partial protein function are increasingly being identified . Mutations in recombination-activating genes (RAGs ) 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 RAG 1 mutations with distinct presentations . One patient had granulomatous skin disease and disseminated nontuberculous mycobacteria ; the second patient presented with predominantly autoimmune manifestations ; and the third patient presented with relatively late onset of infections and had isolated T -cell lymphopenia . These disparate and atypical presentations of hypomorphic RAG 1 mutations highlight the role of RAG 1 in immune function and autoimmunity and expand the disease spectrum linked to these genes .

Diseases
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Diseases presenting "expand the disease spectrum linked to these genes" symptom

omenn syndrome

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