A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ.
Chou J, et al.
J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.
J Allergy Clin Immunol. 2012.
PMID: 22841008
Free PMC article.
No abstract available.