title: Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  This report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.
authors.affiliation: Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco.
authors.forename: Ayoub
authors.initials: A
authors.lastname: Aglaguel
authors.affiliation: Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco.
authors.forename: Houria
authors.initials: H
authors.lastname: Abdelghaffar
authors.affiliation: 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.
authors.forename: Fatima
authors.initials: F
authors.lastname: Ailal
authors.affiliation: Laboratory of Hematology, Cellular and Genetic Engineering, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco.
authors.forename: Norddine
authors.initials: N
authors.lastname: Habti
authors.affiliation: Department of Pediatrics, Dr. Von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Hesse
authors.affiliation: Department of Pediatrics, Dr. Von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
authors.forename: Naschla
authors.initials: N
authors.lastname: Kohistani
authors.affiliation: Department of Pediatrics, Dr. Von Hauner Children's Hospital, Ludwig Maximilians University, Munich, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.affiliation: 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.
authors.forename: Ahmed Aziz
authors.initials: AA
authors.lastname: Bousfiha
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007239:Infections / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009018:Morocco; D009154:Mutation / Q000235:genetics*; D009503:Neutropenia / Q000175:diagnosis* / Q000235:genetics; D057089:Pathology, Molecular; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D035781:Siblings; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics
chemical_list: D010727:Phosphoric Diester Hydrolases; C576020:USB1 protein, human
keywords: Moroccan; Mutation; Poikiloderma with Neutropenia; USB1 gene