SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.

doi:10.1016/j.jaip.2026.01.009

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Article

SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes.

The journal of allergy and clinical immunology. In practice - 1 Apr 2026

Yorgun Altunbas Melek, Topal Erhan, Bayram-Catak Feyza, Catak Mehmet Cihangir, Amirov Razin, Colak Burkay Cagan, Sefer Asena Pınar, Can Salim, Keser-Ozturk Necmiye, Bozkurt Selcen, Mahmudov Ramin, Bulut Alper, Demirkaya Durmus Burak, Lo Bernice, Bilgic-Eltan Sevgi, Karakoc-Aydiner Elif, Ozen Ahmet, Yücelten Ayşe Deniz, Baris Safa

Abstract excerpt

BACKGROUND: Netherton syndrome (NS) is a rare genetic disorder resulting from biallelic mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI). Although currently classified as a hyper-IgE syndrome, several manifestations contradict this categorization. Data on genotype-phenotype correlations remain limited, and pediatric...

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PMID: 41611084
DOI: 10.1016/j.jaip.2026.01.009

Genes

SPINK5
CD4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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