Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

• Raha Zamani ^[1] ; Sepideh Shahkarami ^[2] ; Nima Rezaei ^[3]
  1. [1] Tehran University of Medical Sciences

     Tehran University of Medical Sciences

     Irán

     
  2. [2] Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, Ludwig-Maximilians-Universität München (LMU), Munich, Germany; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany.
  3. [3] Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany; Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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• Localización: Allergologia et immunopathologia: International journal for clinical and investigate allergology and clinical immunology, ISSN-e 1578-1267, ISSN 0301-0546, Vol. 49, Nº. 2, 2021, págs. 178-190
• Idioma: inglés
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• Resumen

  • Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak–Higashi syndrome, Griscelli syndrome type 2, Hermansky–Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Regarding the highly overlapping features, these disorders need a comprehensive examination for prompt diagnosis and effective management. As an aid to clinician, distinguishing the pathophysiology, clinical phenotype, and diagnosis as well as treatment options of the six mentioned PID disorders associated with hypopigmentation are described and discussed in this review.