Maria Chitty-Lopez Emma Westermann-Clark Irina Dawson Boglarka Ujhazi Krisztian Csomos Kerry Dobbs Khuong Le Yasuhiro Yamazaki Amir A Sadighi Akha Deepak Chellapandian Ben Oshrine Luigi D Notarangelo Gauri Sunkersett Jennifer W Leiding Jolan E Walter
10.3389/fimmu.2020.01954
Front Immunol
2020 Sep 29;11:1954.
hsct scid asymptomatic infant immunodeficiency newborn screening recombinase activating gene (rag)
CC BY
https://pubmed.ncbi.nlm.nih.gov/33117328/
Genetic Variation Hematopoietic Stem Cell Transplantation Homeodomain Proteins / genetics Neonatal Screening Severe Combined Immunodeficiency / diagnosis Severe Combined Immunodeficiency / surgery
Genetic Variation Hematopoietic Stem Cell Transplantation Homeodomain Proteins / genetics Neonatal Screening Severe Combined Immunodeficiency / diagnosis Severe Combined Immunodeficiency / surgery Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Asymptomatic Diseases Genetic Predisposition to Disease Humans Infant, Newborn Male Phenotype Predictive Value of Tests Severe Combined Immunodeficiency / genetics Severe Combined Immunodeficiency / immunology Treatment Outcome Homeodomain Proteins RAG-1 protein
PMC7552884
33117328
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma
2020