Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.

Dharmagat BhattaraiDaniel E McGinnT Blaine CrowleyVictoria GiuntaKimberly GaiserElaine H ZackaiBeverly S EmanuelJennifer HeimallSoma JyonouchiJuhee LeeDi SunDonna M McDonald-McGinnKathleen E Sullivan

Published in: Journal of clinical immunology (2023)

Significant immunodeficiencies were observed in our cohort, particularly in B cells and antibodies. Our study expands the current clinical understanding and emphasizes the need of immunological studies and multidisciplinary approaches for these patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression
copy number
patient reported outcomes
dna methylation
quality improvement