IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

(2013) T. W. Kuijpers et al.   HAEMATOLOGICA

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism

(2013) Amy P. Hsu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles

(2012) Jennifer M. Puck   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

T-cell receptor excision circles and repertoire diversity in children with profound T-cell immunodeficiency

(2012) Meng-Ying Hsieh et al.   JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION

IL-21 is the primary common   chain-binding cytokine required for human B-cell differentiation in vivo

(2011) M. Recher et al.   BLOOD

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

(2008) C. Speckmann et al.   BLOOD