title: A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.
authors.forename: Taco W
authors.initials: TW
authors.lastname: Kuijpers
authors.forename: Paul A
authors.initials: PA
authors.lastname: Baars
authors.forename: Daan J
authors.initials: DJ
authors.lastname: Aan de Kerk
authors.forename: Machiel H
authors.initials: MH
authors.lastname: Jansen
authors.forename: Ingrid A M
authors.initials: IA
authors.lastname: Derks
authors.forename: Robbert G M
authors.initials: RG
authors.lastname: Bredius
authors.forename: Elisabeth A M
authors.initials: EA
authors.lastname: Sanders
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
authors.forename: Marielle
authors.initials: M
authors.lastname: Alders
authors.forename: Rene A W
authors.initials: RA
authors.lastname: van Lier
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes / Q000276:immunology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D056724:Immunity, Humoral / Q000235:genetics* / Q000276:immunology; D007156:Immunologic Memory / Q000235:genetics* / Q000276:immunology; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics* / Q000276:immunology; D008213:Lymphocyte Activation / Q000235:genetics* / Q000276:immunology; D018655:Lymphocyte Count; D008297:Male; D009154:Mutation; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit