title: A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency.
abstract: The management of patients with IL-7Rα deficient, T-B+NK+ severe combined immunodeficiency (SCID) is a challenge in absence of adequate diagnostic and treatment modalities. An infant diagnosed as SCID at 6 months of age, who received only supportive treatment is described. We present a different perspective of SCID that is managed in a low-middle income country with lack of resources for definitive therapy.
authors.affiliation: From the Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore; and Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
authors.forename: Kristy Fu
authors.initials: KF
authors.lastname: Xinghan
authors.forename: Christian
authors.initials: C
authors.lastname: Harkensee
mesh_terms: D006801:Humans; D007223:Infant; D016131:Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D008297:Male; D020395:Receptors, Interleukin-7 / Q000172:deficiency*; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*
chemical_list: D020395:Receptors, Interleukin-7; C415350:interleukin-7 receptor, alpha chain