Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

J Clin Immunol. 2018 Aug;38(6):642-645. doi: 10.1007/s10875-018-0538-3. Epub 2018 Aug 30.

¹ The Children's Hospital of Philadelphia, Division of Allergy and Immunology and Institute for Immunology, University of Pennsylvania, Philadelphia, PA, 19104, USA. henricksons@email.chop.edu.
² Morsani College of Medicine, Division of Allergy and Immunology, University of South Florida, Tampa, FL, 33620, USA.
³ Johns Hopkins All Children's Hospital, St. Petersburg, FL, 33701, USA.
⁴ Perelman School of Medicine, Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.
⁵ Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
⁶ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease, NIH, Bethesda, MD, USA.
⁷ Perelman School of Medicine, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
⁸ Perelman School of Medicine, Division of Pulmonary, Allergy and Critical Care, University of Pennsylvania, Philadelphia, PA, 19104, USA.

No abstract available

Keywords: RAG; SCID; WES; hypomorphic mutations; myopathy.

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