Long-term outcome of hematopoietic stem cell transplantation for IL2RG/JAK3 SCID: a cohort report.
Abd Hamid, Intan Juliana; Slatter, Mary A; McKendrick, Fiona; Pearce, Mark S; Gennery, Andrew R.
; 129(15): 2198-2201, 2017 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-28209722
Functional T cell immunodeficiencies (with T cells present).
Evidence of innate lymphoid cell redundancy in humans.
Human lymphoid development in the absence of common Î³-chain receptor signaling.
Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.
Tearing RAGs apart.
A nonsense mutation in IKBKB causes combined immunodeficiency.
An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program.
Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs.
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.