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Case report

A novel FLNA p.Pro2469Ser variant is associated with impaired T and NK cell function and immune dysregulation

Ş. Erdem A. Kısaarslan M. B. Acar M. E. Doğan S. Çiçek Pınar Garipçin Şerife Ayaz Güner Alper Özcan Şule Haskoloğlu B. Cetin D. Altay Mehmet Köse Buket Daldaban Sarıca S. Belkaya K. Başaran F. Doğu Kamile Aydan Ikincioğullari Ekrem Ünal A. Eken
Aug 2026 · Immunologic research · Vol 74 · 0 citations · 33 references
Medicine

TL;DR

Findings indicate that the FLNA p.Pro2469Ser variant identified in a pediatric patient presenting with recurrent infections and inflammatory manifestations is associated with altered immune-cell signaling, disturbed cortical cytoskeletal organization, and immune dysregulation.

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