RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

(2013) Yu Nee Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience

(2013) William T. Shearer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient

(2012) Tomoki Kawai et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA-SCID and the Effects of Enzyme Replacement Therapy on the Revertant Phenotype

(2011) M. Moncada-Vélez et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Somatic mosaicism in primary immune deficiencies

(2008) Taizo Wada et al.   Current Opinion in Allergy and Clinical Immunology

Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

(2008) Anna Villa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY