19.12.2024Cerebral inflammation in a patient with Kabuki syndrome

Introduction

The in-depth characterization of patients with common variable immunodeficiency (CVID) is a recent advancement, revealing a complex genetic landscape. A cohort study involving 571 patients identified 68 known disease-causing genes associated with this heterogeneous immune defect [1]. Notably, some patients exhibited gene defects typically linked to specific syndromes but lacked the characteristic syndromic features that would suggest alternative diagnoses (e.g. Kabuki Syndrome) [1].

Keywords:

CVID; KMT2D; inborn errors of immunity; primary CNS vasculitis

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Cerebral inflammation in a patient with Kabuki syndrome.
PMID: 39695015, DOI: 10.1007/s13760-024-02700-z, S2CID: 274856748. DActa Neurologica Belgica:1-4. 2024, Dec. 19. Epub ahead of print.

Authors:

Nicoletti, Tommaso Filippo; Elgizouli, Magdeldin; Warnatz, Klaus; Roth, Patrick; Reimann, Regina