Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause

Methyl-CpG binding protein 2 gene (MECP2) is located on the  X chromosome (Xq28) and is important for nervous and immune system functioning. Patients with MECP2 duplication syndrome (MDS) have recurrent respiratory infections (RRIs). Although RRIs often occur with MDS because some patients with MDS also have hypoimmunoglobulinemia and duplication of the in terleukin-1-receptor-associated kinase-1 gene (IRAK1), which is also located on Xq28, the phenotype of IRAK1 duplication in patients with MDS remains unclear.

Source: Brain and Development - March 26, 2022 Category: Neurology Authors: Ryo Sugitate, Kazuhiro Muramatsu, Tomomi Ogata, Masahide Goto, Shin Hayashi, Noriko Sawaura, Masako Kawada-Nagashima, Atsushi Matsui, Takanori Yamagata Tags: Case Report Source Type: research