Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria

Affiliations

• ¹ Research Unit of Primary Immunodeficiencies, Immune and Infectious Diseases Division, Academic Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
• ² Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.
• ³ Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
• ⁴ Division of Metabolism, Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome, Italy.
• ⁵ Department of Pediatric Hemato-Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
• ⁶ Chair of Pediatrics, Department of Systems Medicine, University of Rome "Tor Vergata", Rome, Italy.