Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells - 02/10/14

Doi : 10.1016/j.jaci.2014.04.037

Mona Hedayat, MD ^a,^{^{∗
These authors contributed equally to this work as first authors.}}, Michel J. Massaad, PhD ^a,^{^{∗
These authors contributed equally to this work as first authors.}}, Yu Nee Lee, PhD ^a,^{^{∗
These authors contributed equally to this work as first authors.}}, Mary Ellen Conley, MD ^b, Jordan S. Orange, MD, PhD ^c, Toshiro K. Ohsumi, PhD ^d, Waleed Al-Herz, MD ^e, Luigi D. Notarangelo, MD ^a,^{^{‡
These authors contributed equally to this work as last authors.}}, Raif S. Geha, MD ^a,^{^{‡
These authors contributed equally to this work as last authors.}}, Janet Chou, MD ^a,^{^{‡
These authors contributed equally to this work as last authors.}}
^a Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass
^b St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY
^c Immunology, Allergy, and Rheumatology, Baylor College of Medicine and the Texas Children's Hospital, Houston, Tex
^d Department of Molecular Biology, Massachusetts General Hospital, Boston, Mass
^e Faculty of Medicine, Department of Pediatrics, Kuwait University, Kuwait City, Kuwait

This study was supported by the National Institutes of Health (grant no. NIH P01AI-076210 and grant no. AI-094017), the Dubai Harvard Foundation for Medical Research (to R.S.G.), a Manton Foundation Pilot Award (to J.C.), and the Kuwait Foundation for the Advancement of Sciences (grant no. 2010-1302-05 to W.A.-H.).

Disclosure of potential conflict of interest: W. Al-Herz has received research support from the Kuwait Foundation for the Advancement of Sciences. R. S. Geha has received research support from the National Institutes of Health (grant nos. NIH P01 AI-076210 and AI-094017) and the Dubai Harvard Foundation for Medical Research. J. Chou has received research support from the Manton Foundation. The rest of the authors declare that they have no relevant conflicts of interest.

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Vol 134 - N° 4

P. 983 - octobre 2014 Retour au numéro

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Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells - 02/10/14

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