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Poikiloderma with Neutropenia in Morocco: a Report of Four Cases

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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.

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Acknowledgements

The authors would particularly like to thank the patients and their families, whose trust, support, and cooperation were essential for the collection of the data used in this study. The authors would also like to thank the HAJAR association (http://www.hajar-maroc.org) and the Moroccan Society for Primary Immunodeficiencies (http://www.pid-moroccansociety.org) for their helpful support.

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Authors and Affiliations

  1. Laboratory of Biosciences, Integrated and Molecular Functional Exploration (LBEFIM), Faculty of Science and Techniques of Mohammedia, Hassan II University of Casablanca, Casablanca, Morocco

    Ayoub Aglaguel & Houria Abdelghaffar

  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

    Fatima Ailal & Ahmed Aziz Bousfiha

  3. Laboratory of Hematology, Cellular and Genetic Engineering, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, Casablanca, Morocco

    Norddine Habti

  4. Department of Pediatrics, Dr. Von Hauner Children’s Hospital, Ludwig Maximilians University, Munich, Germany

    Sebastian Hesse, Naschla Kohistani & Christoph Klein

Authors
  1. Ayoub Aglaguel
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  2. Houria Abdelghaffar
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  3. Fatima Ailal
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  4. Norddine Habti
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  5. Sebastian Hesse
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  6. Naschla Kohistani
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  7. Christoph Klein
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  8. Ahmed Aziz Bousfiha
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Corresponding author

Correspondence to Ahmed Aziz Bousfiha.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients included in the study.

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Aglaguel, A., Abdelghaffar, H., Ailal, F. et al. Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. J Clin Immunol 37, 357–362 (2017). https://doi.org/10.1007/s10875-017-0385-7

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  • DOI: https://doi.org/10.1007/s10875-017-0385-7

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