Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! By
Primary Immunodeficiency Associated With Hypopigmentation: A Differential Diagnosis Approach Publisher Pubmed



Zamani R1, 2 ; Shahkarami S3, 4 ; Rezaei N4, 5, 6
Authors

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.
1. Common Presentations and Diagnostic Approaches, Stiehm's Immune Deficiencies: Inborn Errors of Immunity (2020)
3. Congenital Neutropenia and Primary Immunodeficiency Diseases, Critical Reviews in Oncology/Hematology (2019)
Experts (# of related papers)
Other Related Docs
4. Primary Immunodeficiency and Thrombocytopenia, International Reviews of Immunology (2022)
7. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity, Journal of Allergy and Clinical Immunology: In Practice (2023)
13. Global Systematic Review of Primary Immunodeficiency Registries, Expert Review of Clinical Immunology (2020)
16. Approach to the Management of Autoimmunity in Primary Immunodeficiency, Scandinavian Journal of Immunology (2017)