title: B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.
abstract: Severe combined immunodeficiency (SCID) is caused by a variety of underlying defects. Approximately 40% of cases are thought to be of the X-linked type (SCIDX1), which is phenotypically characterised by the absence, or very low numbers, of T cells, but normal or even high B cell numbers. The gene responsible for SCIDX1 is that coding for the common gamma chain (gamma c), a component of multiple cytokine receptors. Mutations in this gene have been demonstrated in a large number of boys affected by typical SCIDX1. We describe a sporadic case of a boy who had SCID with absent B cells and absent T cells, but in whom a mutation in the gamma c gene has been demonstrated. In the absence of a typical X-linked pedigree, the phenotype in this boy suggested an autosomal recessive form of SCID and the family would usually have been counselled accordingly. This family raises the question of the true frequency of SCIDX1 amongst sporadic male cases of SCID and highlights the need to screen these boys for gamma chain mutations.
authors.affiliation: Molecular Immunology Unit, Institute of Child Health, London, UK.
authors.forename: A M
authors.initials: AM
authors.lastname: Jones
authors.forename: P A
authors.initials: PA
authors.lastname: Clark
authors.forename: F
authors.initials: F
authors.lastname: Katz
authors.forename: S
authors.initials: S
authors.lastname: Genet
authors.forename: C
authors.initials: C
authors.lastname: McMahon
authors.forename: L
authors.initials: L
authors.lastname: Alterman
authors.forename: A
authors.initials: A
authors.lastname: Cant
authors.forename: C
authors.initials: C
authors.lastname: Kinnon
mesh_terms: D015703:Antigens, CD / Q000276:immunology; D001402:B-Lymphocytes / Q000276:immunology*; D004247:DNA / Q000097:blood; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D018121:Receptors, Cytokine / Q000235:genetics*; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D018121:Receptors, Cytokine; D015375:Receptors, Interleukin-2; D004247:DNA