A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.

Noa Greenberg-KushnirYu Nee LeeAmos J SimonAtar LevNufar MarcusOmar AbuzaitounRaz SomechTali Stauber

Published in: Journal of clinical immunology (2019)

Consanguineous marriages account for a genetic "founder effect." SCID is a pediatric emergency that dictates immediate precautions and curative treatment with HSCT. Due to lack of newborn screening for SCID within the Palestinian population, most patients in this cohort were diagnosed upon clinical symptoms, which led to a delayed diagnosis, harmful administration of contra-indicated live vaccines, delay in HSCT, and poor outcome.

Keyphrases

end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
prognostic factors
emergency department
healthcare
physical activity
copy number
rectal cancer
young adults