JAK1 Gain-Of-Function Variant Causes Alopecia Areata, Atopic Dermatitis, And Autoimmune Thyroid Disease

October 2025 in “ Journal of Allergy and Clinical Immunology ”

S. Fujita, Shigenori Kabashima, Kumiko Yanagi, Kenji Toyokuni, Kazue Yoshida, Yumiko Miyaji, Shuji Takada, Kenichiro Motomura, Masato Tamari, Hisataka Nakazaki, Yoshitaka Hayashi, Naoko Nagano, Toru Uchiyama, Kimihiko Oishi, Susumu Yokoya, Takako Yoshioka, Kanako Tanase‐Nakao, Kiwako Yamamoto‐Hanada, Tatsuki Fukuie, Reiko Horikawa, Hirohisa Saito, Yoichi Matsubara, Yukihiro Ohya, Tadashi Kaname, Kenji Matsumoto, Hideaki Morita

JAK1 alopecia areata atopic dermatitis autoimmune thyroid disease IFN-γ signaling JAK1 inhibitor upadacitinib AA AD AITD interferon gamma Rinvoq

Studysummary A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.

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Research cited in this study

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research Comorbid Bronchial Asthma, Atopic Dermatitis, and Hashimoto's Thyroiditis Are Risk Factors for Early-Onset, Severe, and Prolonged Alopecia Areata

2 citations , January 2025 in “Allergy”

This study found that alopecia areata patients in Central Europe with comorbid chronic inflammatory disorders, especially atopic dermatitis, bronchial asthma, or Hashimoto's thyroiditis, had an increased likelihood of experiencing early-onset, severe, or prolonged disease compared to those without such comorbidities.

research JAK Inhibition Decreases the Autoimmune Burden in Down Syndrome

18 citations , August 2024 in “eLife”

This study investigated immune dysregulation in individuals with Down syndrome and found that treatment with the JAK inhibitor tofacitinib improved skin conditions like alopecia areata and reduced autoimmune markers without severe side effects. Additional research is necessary to understand its broader impacts.