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