title: Identification of two novel mutations in patients with X-linked primary immunodeficiencies.
abstract: Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders with defects in one or more component of the immune system. In this study, we analyzed gene mutations in four X-linked PID pedigrees, which include one X- linked agammaglobulinemia (XLA) pedigree, one X-linked chronic granulomatous disease (XCGD) pedigree, and two X-linked Hyper IgM syndrome (XHIGM) pedigrees. Sequence analysis of the BTK gene revealed a novel mutation (c.1802_1803delinsGCC, p.Phe601CysfsX3) which results in the developmental arrest of B cells in the bone marrow. Sequence analysis of the CYBB gene revealed a recurrent frameshift mutation (c.1313_1314delinsT) in exon 10, which generates a premature stop codon (p.Lys438IlefsX63). One novel frameshift mutation (c.114delG, p.Ser39GlnfsX14) and one recurrent missense mutation (c.499G>C, p.Gly167Arg) were found in the CD40LG gene and cause defective T cell functioning. In conclusion, our study identified two novel mutations on the BTK and CD40LG genes in Chinese patients and established accurate and simple genetic diagnostic methods for three X-linked PID.
authors.affiliation: 1Institutes of Biomedical Sciences, Fudan University , Shanghai , China.
authors.forename: Li
authors.initials: L
authors.lastname: Yu
authors.forename: Xike
authors.initials: X
authors.lastname: Wang
authors.forename: Yuchuan
authors.initials: Y
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
keywords: BTK; CD40LG; CYBB; X-linked primary immunodeficiencies; gene mutation