Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share 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.
Related Docs
View other Related Docs
1. Common Presentations and Diagnostic Approaches, Stiehm's Immune Deficiencies: Inborn Errors of Immunity (2020)
2. Early Diagnosis of Immunodeficient Patients With Partial Albinism: The Role of Hair Study and Peripheral Blood Smear, Pediatric Allergy and Immunology (2024)
3. Congenital Neutropenia and Primary Immunodeficiency Diseases, Critical Reviews in Oncology/Hematology (2019)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (7)
Amir Ali Hamidieh (4)
Other Related Docs
4. Primary Immunodeficiency and Thrombocytopenia, International Reviews of Immunology (2022)
5. Partial Albinism and Immunodeficiency in Patients With Hermansky-Pudlak Type Ii: Introducing 2 Novel Mutations, Scandinavian Journal of Immunology (2021)
6. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis, Journal of Clinical Immunology (2018)
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)
8. Nckap1l Defects Lead to a Novel Syndrome Combining Immunodeficiency, Lymphoproliferation, and Hyperinflammation, Journal of Experimental Medicine (2020)
9. Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (4Th Edition)1, Autophagy (2021)
10. Griscelli Syndrome Type 1: A Novel Pathogenic Variant, and Review of Literature, Molecular Genetics and Genomics (2023)
11. Important Differences in the Diagnostic Spectrum of Primary Immunodeficiency in Adults Versus Children, Expert Review of Clinical Immunology (2015)
12. Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential Rab27a Effector Engagement, Frontiers in Immunology (2020)
13. Global Systematic Review of Primary Immunodeficiency Registries, Expert Review of Clinical Immunology (2020)
14. Molecular Findings and Clinical Manifestations of 18 Iranian Children With Griscelli Syndrome Type 2: Two Novel Homozygote Mutations in Rab27a Gene in a Patient, Scandinavian Journal of Immunology (2023)
15. Clinical, Immunological, Molecular and Therapeutic Findings in Monogenic Immune Dysregulation Diseases: Middle East and North Africa Registry, Clinical Immunology (2022)
16. Approach to the Management of Autoimmunity in Primary Immunodeficiency, Scandinavian Journal of Immunology (2017)
17. Somatic Reversion of Pathogenic Dock8 Variants Alters Lymphocyte Differentiation and Function to Effectively Cure Dock8 Deficiency, Journal of Clinical Investigation (2021)
18. Clinical Heterogeneity in Families With Multiple Cases of Inborn Errors of Immunity, Clinical Immunology (2024)
19. The Clinical Significance of Complete Class Switching Defect in Ataxia Telangiectasia Patients, Expert Review of Clinical Immunology (2017)
20. Registry of Clinical Data and Laboratory Findings in 80 Patients With Primary Immunodeficiencies in Mofid Children Hospital, Journal of Comprehensive Pediatrics (2018)