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Shabnam Eskandarzadeh

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Open access Jan 2026

Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report

Background Serine/threonine kinase 4 (STK4) deficiency is one of the rare causes of combined immunodeficiency (CID). In this study, we report a novel mutation causing STK4 deficiency, which presents with chronic pyelonephritis, an uncommon presentation. Case Presentation A 10‐year‐old female with an incidental mass in...

Hamidreza Ashayeri, Shabnam Eskandarzadeh, Samin Alavi et al. · 0 citations

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