article_metadata: 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
article_metadata: 10.3389/fimmu.2020.01954
article_metadata: Front Immunol
article_metadata: 2020 Sep 29;11:1954.
article_metadata: hsct scid asymptomatic infant immunodeficiency newborn screening recombinase activating gene (rag)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33117328/
article_metadata: Genetic Variation Hematopoietic Stem Cell Transplantation Homeodomain Proteins / genetics Neonatal Screening Severe Combined Immunodeficiency / diagnosis Severe Combined Immunodeficiency / surgery
article_metadata: 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
article_metadata: PMC7552884
article_metadata: 33117328
article_metadata: Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma
article_metadata: 2020