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

Enrica Calzoni; Craig D Platt; Sevgi Keles; Hye Sun Kuehn; Sarah Beaussant-Cohen; Yu Zhang; Julia Pazmandi; Gaetana Lanzi; Francesca Pala; Azzeddine Tahiat; Hasibe Artac; Raul Jimenez Heredia; Jasmin Dmytrus; Ismail Reisli; Vedat Uygun; Dilara Uygun; Aysen Bingol; Erdem Basaran; Kamel Djenouhat; Nafissa Benhalla; Chafa Bendahmane; Melike Emiroglu; Tomas Kirchhausen; Mithun Pasham; Jennifer Jones; Jacqueline G Wallace; Lixin Zheng; Bertrand Boisson; Fulvio Porta; Sergio D Rosenzweig; Helen Su; Silvia Giliani; Michael Lenardo; Raif S Geha; Kaan Boztug; Janet Chou; Luigi D Notarangelo

doi:10.1016/j.jaci.2019.02.014

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. Epub 2019 Feb 26.

Authors

Enrica Calzoni¹, Craig D Platt², Sevgi Keles³, Hye Sun Kuehn⁴, Sarah Beaussant-Cohen², Yu Zhang⁵, Julia Pazmandi⁶, Gaetana Lanzi⁷, Francesca Pala⁵, Azzeddine Tahiat⁸, Hasibe Artac⁹, Raul Jimenez Heredia⁶, Jasmin Dmytrus⁶, Ismail Reisli³, Vedat Uygun¹⁰, Dilara Uygun¹¹, Aysen Bingol¹¹, Erdem Basaran¹², Kamel Djenouhat⁸, Nafissa Benhalla¹³, Chafa Bendahmane¹⁴, Melike Emiroglu¹⁵, Tomas Kirchhausen¹⁶, Mithun Pasham¹⁶, Jennifer Jones², Jacqueline G Wallace², Lixin Zheng¹⁷, Bertrand Boisson¹⁸, Fulvio Porta¹⁹, Sergio D Rosenzweig⁴, Helen Su⁵, Silvia Giliani⁷, Michael Lenardo¹⁷, Raif S Geha², Kaan Boztug²⁰, Janet Chou²¹, Luigi D Notarangelo²²

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: janet.chou@childrens.harvard.edu.
²² Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: luigi.notarangelo2@nih.gov.

Abstract

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

Publication types

Case Reports
Letter
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

MeSH terms

Child
Child, Preschool
Female
Humans
Infant
Male
Membrane Proteins / genetics*
Primary Immunodeficiency Diseases / genetics*

Substances

FCHO1 protein, human
Membrane Proteins

Grants and funding

Z99 AI999999/ImNIH/Intramural NIH HHS/United States