Systemic JAK inhibitors for treatment of cutaneous manifestations in a patient with SPINK5 variants: A case report and review of the literature

Bridget E Wilson^{1

2}, Theresa A Grebe³, Supraja Prakash³, Cindy S Bauer^{1

4}

Affiliations

¹ Division of Allergy and Immunology, Phoenix Children's, Phoenix, Arizona, USA.
² Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
³ Department of Genetics and Metabolism, Phoenix Children's, Phoenix, Arizona, USA.
⁴ Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA.

Case Reports

Bridget E Wilson et al. Pediatr Allergy Immunol. 2025 Feb.

. 2025 Feb;36(2):e70039.

doi: 10.1111/pai.70039.

Bridget E Wilson^{1

2}, Theresa A Grebe³, Supraja Prakash³, Cindy S Bauer^{1

4}

¹ Division of Allergy and Immunology, Phoenix Children's, Phoenix, Arizona, USA.
² Division of Allergy, Asthma, and Clinical Immunology, Mayo Clinic, Scottsdale, Arizona, USA.
³ Department of Genetics and Metabolism, Phoenix Children's, Phoenix, Arizona, USA.
⁴ Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, USA.

No abstract available

Keywords: JAK inhibitor; Netherton syndrome; SPINK5; abrocitinib; atopic dermatitis; eczema; upadacitinib.

References

1. Sullivan KE, Stiehm ER. Stiehm's immune deficiencies: inborn errors of immunity. 2nd ed. Academic Press/Elsevier; 2020.
1. Milner JD. Primary atopic disorders. Annu Rev Immunol. 2020;38:785‐808. doi:10.1146/annurev-immunol-042718-041553
1. Pontone M, Giovannini M, Filippeschi C, et al. Biological treatments for pediatric Netherton syndrome. Front Pediatr. 2022;10:1074243. doi:10.3389/fped.2022.1074243
1. Nouwen AEM, Schappin R, Nguyen NT, et al. Outcomes of systemic treatment in children and adults with Netherton syndrome: a systematic review. Front Immunol. 2022;13:864449. doi:10.3389/fimmu.2022.864449
1. Maatouk I, Moutran R, Tomb R. Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. Clin Exp Dermatol. 2012;37(4):364‐366. doi:10.1111/j.1365-2230.2011.04231.x