Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism

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

(2015) Amy P. Hsu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Primary Immune Deficiency Treatment Consortium (PIDTC) report

(2013) Linda M. Griffith 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

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

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

(2008) C. Speckmann et al.   BLOOD

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

(2008) T. Wada et al.   BLOOD