ArticleJournal of clinical immunology2017
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Regression of Monosomy 7 Clone in Patient With RECQL4-Associated Syndrome.American journal of hematology · 2025Article
- Poikiloderma with neutropenia: a case report.Journal of medical case reports · 2025Article
- Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.Immunologic research · 2025Article
- Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia.Journal of pediatric genetics · 2023Article
- Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.Pediatric dermatology · 2022Article
- Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.Journal of clinical immunology · 2021Article
- Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.Indian journal of pediatrics · 2021Article
- Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.Frontiers in medicine · 2021Article
- Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePoikiloderma 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.
methodsWe investigated the genetic, immunological, and clinical features of four Moroccan patients with PN from three unrelated consanguinous families.
resultsMean 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.
conclusionThis report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.
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