Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review

Author:

Salici Nazmiye Selin1ORCID,Ozcanli Adil1ORCID,Rasulova Gunel1ORCID,Basak Ayse Nazli2ORCID,Tekgul Seyma2ORCID,Vural Secil1ORCID

Affiliation:

1. Department of Dermatology and Venereology Koç University School of Medicine Zeytinburnu Turkey

2. Neurodegeneration Research Laboratory, Suna and Inan Kıraç Foundation KUTTAM, Koç University School of Medicine Zeytinburnu Turkey

Abstract

AbstractNetherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G>A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.

Publisher

Wiley

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