Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens
M Fasshauer, S Dinges, O Staudacher, M Völler… - Frontiers in …, 2024 - frontiersin.org
In patients with severe and recurrent infections, minimal diagnostic workup to test for Inborn
Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies …
Errors of Immunity (IEI) includes a full blood count, IgG, IgA and IgM. Vaccine antibodies …
Multi‐omics in MECP2 duplication syndrome patients and carriers
A Pascual‐Alonso, C Xiol, D Smirnov… - European Journal of …, 2024 - Wiley Online Library
MECP2 duplication syndrome (MDS) is an X‐linked neurodevelopmental disorder caused
by the gain of dose of at least the genes MECP2 and IRAK1 and is characterised by …
by the gain of dose of at least the genes MECP2 and IRAK1 and is characterised by …
[HTML][HTML] Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
XH Xing, R Takam, XY Bao, NA Ba-Alwi… - World Journal of Clinical …, 2023 - ncbi.nlm.nih.gov
BACKGROUND Chromosomal Xq28 region duplication encompassing methyl-CpG-binding
protein 2 (MECP2) results in an identifiable phenotype and global developmental delay …
protein 2 (MECP2) results in an identifiable phenotype and global developmental delay …