Ayoub Aglaguel1, Houria Abdelghaffar1, Fatima Ailal2, Norddine Habti3, Sebastian Hesse4, Naschla Kohistani4, Christoph Klein4, Ahmed Aziz Bousfiha5. 1. Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco. 2. Clinical Immunology Unit, Department of Pediatrics, Abderrahim Harouchi Children's Hospital, CHU Ibn Rochd, LICIA Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medecine and Pharmacy, Hassan II University of Casablanca, Rue Mohamed El Fidouzi, 20360, Casablanca, Morocco. 3. Laboratory of Hematology, Cellular and Genetic Engineering, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco. 4. Department of Pediatrics, Dr. Von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany. 5. Clinical Immunology Unit, Department of Pediatrics, Abderrahim Harouchi Children's Hospital, CHU Ibn Rochd, LICIA Laboratory of Clinical Immunology, Inflammation and Allergy, Faculty of Medecine and Pharmacy, Hassan II University of Casablanca, Rue Mohamed El Fidouzi, 20360, Casablanca, Morocco. profbousfiha@gmail.com.
Abstract
PURPOSE: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families. METHODS: We investigated the genetic, immunological, and clinical features of four Moroccan patients with PN from three unrelated consanguinous families. RESULTS: Mean age at onset was 3 months and mean age at diagnosis was 7.5 years. The diagnosis of these PN patients was made based on clinical features and confirmed by molecular analysis for three cases. We identified two undescribed homozygous mutations in the USB1 gene: c.609 + 1G>A in two siblings and c.518 T>G(p.(Leu173Arg)) in the other case. CONCLUSION: This report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.
PURPOSE:Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families. METHODS: We investigated the genetic, immunological, and clinical features of four Moroccan patients with PN from three unrelated consanguinous families. RESULTS: Mean age at onset was 3 months and mean age at diagnosis was 7.5 years. The diagnosis of these PNpatients was made based on clinical features and confirmed by molecular analysis for three cases. We identified two undescribed homozygous mutations in the USB1 gene: c.609 + 1G>A in two siblings and c.518 T>G(p.(Leu173Arg)) in the other case. CONCLUSION: This report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.
Entities:
Keywords:
Moroccan; Mutation; Poikiloderma with Neutropenia; USB1 gene
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