BH02 Overcoming Genetic Drivers in Alopecia Areata: Hair Regrowth in a Patient with the AIRE Gene Mutation Treated with Ruxolitinib

June 2025 in “ British Journal of Dermatology ”

James N. Irvine, Susan Holmes

alopecia areata alopecia universalis AIRE gene mutation APECED ruxolitinib Janus kinase inhibitor SALT score Jakafi

A 20-year-old woman with alopecia universalis and a biallelic AIRE gene mutation, associated with APECED, achieved complete hair regrowth (SALT score of 0) after 9 months of treatment with ruxolitinib, a Janus kinase inhibitor. The treatment also improved her neurological condition and quality of life. This case underscores the potential of ruxolitinib in treating severe alopecia areata linked to genetic mutations.

View this study on academic.oup.com →

Discuss this study in the Community →

Related Community Posts Join

6 / 1000+ results

community Alopecia Areata Question

in Treatment 2 upvotes 5 years ago

A user with alopecia totalis, borderline universalis, seeks advice on getting into a Xeljanz trial or appealing insurance for coverage. They experienced significant hair regrowth but are now seeing hair loss again and want to try Xeljanz.

community Olumiant alternative for Alopecia Areata?

in Treatment 1 upvotes 2 years ago

A user with alopecia areata is considering treatment options like injections or Olumiant but is concerned about cost and whether delaying treatment will lead to permanent hair loss. They are seeking alternative treatments that are more affordable for a college student.

community Hairloss all over body and head

in Treatment 2 upvotes 1 month ago

A 25-year-old experiencing hair thinning all over the body and head, despite using minoxidil and having low vitamin D levels, is advised to seek a second opinion from a dermatologist specializing in hair loss. The likely diagnosis is diffuse alopecia areata, which may require treatment with a JAK inhibitor.

community Aminexil, Nanoxidil, Stemoxydine and Kopexil. Anyone use them?

in Question 1 upvotes 8 years ago

Aminexil, nanoxidil, stemoxydine, and kopexil are discussed as alternatives to minoxidil for hair growth, with concerns about dependence. Minoxidil is noted for its effectiveness in transitioning hair growth phases, but dependence is mainly linked to androgenic alopecia.

community Dutasteride thins eyebrows and facial hair but doesn't stop scalp loss.

in Finasteride/Dutasteride 37 upvotes 8 months ago

Dutasteride may not effectively stop scalp hair loss and can cause thinning of facial and body hair, including eyebrows. Users suggest considering other causes like autoimmune conditions or vitamin deficiencies and exploring treatments like finasteride or minoxidil.

community The shedding caused by Minoxidil is one of the worst things. 2 months apart each picture

in Progress Pictures 290 upvotes 1 year ago

The conversation discusses the severe shedding caused by Minoxidil, with users sharing their experiences and outcomes. Some report eventual regrowth, while others see no improvement or worsening hair loss.

Related Research

2 / 2 results

research Twenty Nail Dystrophy with Alopecia Areata in an Atopic Child

April 2019 in “International journal of research in dermatology”

A child with rough nails also had hair loss and allergies.

research Oral Ruxolitinib Induces Hair Regrowth in Patients with Moderate-to-Severe Alopecia Areata

196 citations , September 2016 in “JCI insight”

Ruxolitinib effectively regrows hair in most patients with severe hair loss.