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

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014.

Enrica Calzoni ¹, Craig D Platt ², Sevgi Keles ³, Hye Sun Kuehn ⁴, Sarah Beaussant-Cohen ², Yu Zhang ⁵, Julia Pazmandi ⁶, Gaetana Lanzi ⁷, Francesca Pala ⁵, Azzeddine Tahiat ⁸, Hasibe Artac ⁹, Raul Jimenez Heredia ⁶, Jasmin Dmytrus ⁶, Ismail Reisli ³, Vedat Uygun ¹⁰, Dilara Uygun ¹¹, Aysen Bingol ¹¹, Erdem Basaran ¹², Kamel Djenouhat ⁸, Nafissa Benhalla ¹³, Chafa Bendahmane ¹⁴, Melike Emiroglu ¹⁵, Tomas Kirchhausen ¹⁶, Mithun Pasham ¹⁶, Jennifer Jones ², Jacqueline G Wallace ², Lixin Zheng ¹⁷, Bertrand Boisson ¹⁸, Fulvio Porta ¹⁹, Sergio D Rosenzweig ⁴, Helen Su ⁵, Silvia Giliani ⁷, Michael Lenardo ¹⁷, Raif S Geha ², Kaan Boztug ²⁰, Janet Chou ²¹, Luigi D Notarangelo ²²

Affiliations

1 Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md; "A. Nocivelli Institute for Molecular Medicine", Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
2 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass.
3 Division of Pediatric Immunology and Allergy, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
4 Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md.
5 Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
6 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
7 "A. Nocivelli Institute for Molecular Medicine", Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
8 Laboratory of Medical Biology, Rouiba Hospital, Algiers, Algeria; Algiers Faculty of Medicine, University of Algiers 1, Algiers, Algeria.
9 Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Konya, Turkey.
10 Medical Park, Antalya Hospital, Pediatric Bone Marrow Transplantation Unit, Antalya, Turkey.
11 Department of Immunology-Allergy, Akdeniz University School of Medicine, Antalya, Turkey.
12 Department of Pediatric Pulmonology, Akdeniz University School of Medicine, Antalya, Turkey.
13 Department of Pediatrics, Beni Messous University Hospital, Algiers, Algeria.
14 Department of Pediatrics, Meftah Hospital, Blida, Algeria.
15 Pediatric Infectious Diseases, Selcuk University Medical Faculty, Konya, Turkey.
16 Department of Cell Biology, Harvard Medical School, and Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Mass.
17 Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
18 St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Descartes University, Paris, France.
19 Pediatric Onco-Haematology and BMT Unit, Children's Hospital, ASST Spedali Civili of Brescia, Brescia, Italy.
20 Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
21 Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, Mass. Electronic address: [email protected].
22 Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: [email protected].

PMID: 30822429 DOI: 10.1016/j.jaci.2019.02.014

Abstract

FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impaired clathrin-mediated endocytosis

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