F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects - 06/06/19

Doi : 10.1016/j.jaci.2019.02.014

Enrica Calzoni, MD ^a,^b,^{^{∗
These authors contributed equally to this work.}}, Craig D. Platt, MD, PhD ^c,^{^{∗
These authors contributed equally to this work.}}, Sevgi Keles, MD ^d, Hye Sun Kuehn, PhD ^e, Sarah Beaussant-Cohen, MD ^c, Yu Zhang, PhD ^a, Julia Pazmandi, MSc ^f, Gaetana Lanzi, PhD ^b, Francesca Pala, PhD ^a, Azzeddine Tahiat, PhD ^g,^h, Hasibe Artac, MD ⁱ, Raul Jimenez Heredia, MSc ^f, Jasmin Dmytrus, MSc ^f, Ismail Reisli, MD ^d, Vedat Uygun, MD ^j, Dilara Uygun, MD ^k, Aysen Bingol, MD ^k, Erdem Basaran, MD ^l, Kamel Djenouhat, MD, PhD ^g,^h, Nafissa Benhalla, MD, PhD ^m, Chafa Bendahmane, MD ⁿ, Melike Emiroglu, MD ^o, Tomas Kirchhausen, PhD ^p, Mithun Pasham, MS ^p, Jennifer Jones, BA ^c, Jacqueline G. Wallace, BSPH ^c, Lixin Zheng, MD ^q, Bertrand Boisson, PhD ^r,^s,^t, Fulvio Porta, MD ^u, Sergio D. Rosenzweig, MD, PhD ^e, Helen Su, MD, PhD ^a, Silvia Giliani, PhD ^b, Michael Lenardo, MD ^q, Raif S. Geha, MD ^c, Kaan Boztug, MD ^f,^v,^w,^x, Janet Chou, MD ^c,^{^{‡
These authors contributed equally to this work.}} , Luigi D. Notarangelo, MD ^a,^{^{‡
These authors contributed equally to this work.}}
^a Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
^q Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md
^b “A. Nocivelli Institute for Molecular Medicine”, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
^c Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass
^d Division of Pediatric Immunology and Allergy, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey
^e Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md
^f Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
^g Laboratory of Medical Biology, Rouiba Hospital, Algiers, Algeria
^h Algiers Faculty of Medicine, University of Algiers 1, Algiers, Algeria
ⁱ Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Konya, Turkey
^j Medical Park, Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Turkey
^k Department of Immunology-Allergy, Akdeniz University School of Medicine, Antalya, Turkey
^l Department of Pediatric Pulmonology, Akdeniz University School of Medicine, Antalya, Turkey
^m Department of Pediatrics, Beni Messous University Hospital, Algiers, Algeria
ⁿ Department of Pediatrics, Meftah Hospital, Blida, Algeria
^o Pediatric Infectious Diseases, Selcuk University Medical Faculty, Konya, Turkey
^p Department of Cell Biology, Harvard Medical School, and Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Mass
^r St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY
^s Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France
^t Imagine Institute, Paris Descartes University, Paris, France
^u Pediatric Onco-Haematology and BMT Unit, Children's Hospital, ASST Spedali Civili of Brescia, Brescia, Italy
^v CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
^w Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
^x St Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria

	Supported by the Division of Intramural Research,National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, and by the “Angelo Nocivelli” Foundation.
	Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

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Vol 143 - N° 6

P. 2317 - juin 2019 Retour au numéro

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