Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

Szaflarska, Anna; Rutkowska-Zapała, Magdalena; Gruca, Anna; Szewczyk, Katarzyna; Bik-Multanowski, Mirosław; Lenart, Marzena; Surman, Marta; Kopyta, Ilona; Głuszkiewicz, Ewa; Machnikowska-Sokołowska, Magdalena; Gruszczyńska, Katarzyna; Pituch‐Noworolska, Anna; Siedlar, Maciej

doi:10.5114/ceji.2018.77383

Public

Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

Published in Central European Journal of Immunology • Jun 30, 2018

Authors:

Anna Szaflarska

Magdalena Rutkowska-Zapała

Anna Gruca

Abstract

INTRODUCTION: In this study we describe a patient with gross deletion containing the BTK and TIMM8A genes. Mutations in these genes are responsible for X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome, respectively. X linked agammaglobulinemia is a rare primary immunodeficiency characterize...

Subject

Neuroimaging

Gene

Chromosome

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