Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata

January 2023 in “ Skin Appendage Disorders ”

Hanna Englander, Briana Paiewonsky, Leslie Castelo‐Soccio

alopecia areata autoimmune non-scarring hair loss telogen hair miniaturized hair follicles lymphocytic infiltration immune privilege hair follicles genetic variants biopsies

Studysummary This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

9 citations , February 2022 in “Nature communications”

This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.

research Joint Study of the Associations of HLA-B and the Transmembrane Short Tandem Repeat Polymorphism of MICA Protein with Alopecia Areata Shows Independent Associations of Both with the Disease

7 citations , February 2020 in “Clinical and Experimental Dermatology”

This study identified an association between alopecia areata and the MICA*009 and HLA-B14 genetic markers, highlighting the importance of studying them together to better understand their role in this condition.

Alopecia Areata Patients Show Deficiency of FOXP3+CD39+ T Regulatory Cells and Clonotypic Restriction of Treg TCRβ-Chain, Highlighting the Immunopathological Aspect of the Disease

research Alopecia Areata Patients Show Deficiency of FOXP3+CD39+ T Regulatory Cells and Clonotypic Restriction of Treg TCRβ-Chain, Highlighting the Immunopathological Aspect of the Disease

30 citations , July 2019 in “PloS one”

This study found that T-regulatory cells, specifically the FOXP3 CD39 subset, were significantly reduced in both circulation and hair follicles of alopecia areata patients compared to healthy subjects, suggesting potential therapeutic targets.

Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy

20 citations , June 2019 in “Experimental Dermatology”

This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.

research Alopecia Areata: A Review of Disease Pathogenesis

191 citations , May 2018 in “British journal of dermatology/British journal of dermatology, Supplement”

This study reviewed recent theories on alopecia areata's pathogenesis, highlighting its autoimmune nature due to immune privilege disruption in hair follicles, and noted current treatments have limited efficacy with high relapse rates, underscoring the need for further research into its mechanisms for better therapies.

research Epidemiology and Burden of Alopecia Areata: A Systematic Review

144 citations , July 2015 in “Clinical, Cosmetic and Investigational Dermatology”

This review reports that alopecia areata affects about 2% of people globally and is linked with psychiatric and medical comorbidities, highlighting its significant disease burden.

research Serum Level of Macrophage Migration Inhibitory Factor in Egyptians With Alopecia Areata and Its Relation to the Clinical Severity of the Disease

13 citations , March 2014 in “Journal of Clinical Laboratory Analysis”

This study found that patients with alopecia areata had significantly higher serum MIF levels compared to healthy controls, which correlated with greater disease severity and duration.

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations , June 2010 in “Nature”

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

research Maintenance of Hair Follicle Immune Privilege Is Linked to Prevention of NK Cell Attack

253 citations , December 2007 in “Journal of Investigative Dermatology”

This study suggests that human hair follicles may actively suppress natural killer cells, which contrasts with the observed defects in NK cell regulation in alopecia areata.

research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata

44 citations , December 2005 in “Journal of Investigative Dermatology”

This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.

research Role of the Autoimmune Regulator (AIRE) Gene in Alopecia Areata: Strong Association of a Potentially Functional AIRE Polymorphism With Alopecia Universalis

86 citations , December 2002 in “Tissue Antigens”

In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.