title: A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
authors: Janet
authors: J
authors: Chou
authors: Rima
authors: R
authors: Hanna-Wakim
authors: Irit
authors: I
authors: Tirosh
authors: Jennifer
authors: J
authors: Kane
authors: David
authors: D
authors: Fraulino
authors: Yu Nee
authors: YN
authors: Lee
authors: Soha
authors: S
authors: Ghanem
authors: Iman
authors: I
authors: Mahfouz
authors: André
authors: A
authors: Mégarbané
authors: Gérard
authors: G
authors: Lefranc
authors: Adlette
authors: A
authors: Inati
authors: Ghassan
authors: G
authors: Dbaibo
authors: Silvia
authors: S
authors: Giliani
authors: Luigi D
authors: LD
authors: Notarangelo
authors: Raif S
authors: RS
authors: Geha
authors: Michel J
authors: MJ
authors: Massaad
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003873:Dermatitis, Exfoliative / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D053306:Hyper-IgM Immunodeficiency Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D007075:Immunoglobulin M; C064655:V(D)J recombination activating protein 2