A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

• Xiao-Fei Kong,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Aziz Bousfiha,

  Affiliation Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco

  ⨯
• Abdelfettah Rouissi,

  Affiliation Pédiatre du Secteur Libéral, neurologie pédiatre, Casablanca, Morocco

  ⨯
• Yuval Itan,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Avinash Abhyankar,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Vanessa Bryant,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Satoshi Okada,

  Affiliation St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America

  ⨯
• Fatima Ailal,

  Affiliation Clinical Immunology Unit, Department of Pediatrics, King Hassan II University, Ibn-Rochd Hospital, Casablanca, Morocco

  ⨯
• Jacinta Bustamante,

  Affiliations Laboratory of Human Genetics of Infectious Diseases, Necker Branch, U980, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France, University Paris Descartes, Paris Cité Sorbonne, Necker Medical School, Paris, France, Study Center for Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital, Paris, France

  ⨯
• Jean-Laurent Casanova ,

  Contributed equally to this work with: Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

  Affiliations St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, U980, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France, Pediatric Immunology-Hematology Unit, Necker Hospital, Paris, France

  ⨯
• Jennifer Hirst ,

  Contributed equally to this work with: Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

  Affiliation Cambridge Institute for Medical Research, University of Cambridge, England, UK

  ⨯
• Stéphanie Boisson-Dupuis

  Contributed equally to this work with: Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

  * E-mail: stbo603@mail.rockefeller.edu

  Affiliations St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, United States of America, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, U980, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France

  ⨯