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Primary Immunodeficiency Associated With Hypopigmentation: A Differential Diagnosis Approach Publisher Pubmed



Zamani R1, 2 ; Shahkarami S3, 4 ; Rezaei N4, 5, 6
Authors
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Authors Affiliations
  1. 1. Students' Scientific Research Center (SSRC), Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  3. 3. Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universitat Munchen (LMU), Munich, Germany
  4. 4. Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany
  5. 5. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Allergologia et Immunopathologia Published:2021


Abstract

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 vesic-ular/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. © 2021. Codon Publications. Published by Codon Publications. All Rights Reserved.
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