Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

Zamani, Raha; Shahkarami, Sepideh und Rezaei, Nima (2021): Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach. In: Allergologia et Immunopathologia, Bd. 49, Nr. 2: S. 178-190

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 vesicular/endosomal trafficking. Regarding the highly overlapping features, these disorders need hypopigmentation 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 described and discussed in this review. (C) 2021 Codon Publications. Published by Codon Publications.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0301-0546
• Sprache: Englisch