title: Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation.
abstract: X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.
authors.affiliation: Department of Pediatrics, UKSH, Campus Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Vieth
authors.forename: S
authors.initials: S
authors.lastname: Ammann
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: C
authors.initials: C
authors.lastname: Härtel
authors.forename: C
authors.initials: C
authors.lastname: Schultz
authors.forename: K
authors.initials: K
authors.lastname: Lehmberg
authors.forename: M
authors.initials: M
authors.lastname: Lauten
mesh_terms: D016923:Cell Death / Q000235:genetics / Q000276:immunology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020031:Epstein-Barr Virus Infections / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D015870:Gene Expression / Q000235:genetics; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D010375:Pedigree; D054353:Perforin / Q000235:genetics; D010641:Phenotype; D011379:Prognosis; D013602:T-Lymphocytes, Cytotoxic / Q000276:immunology; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics*
chemical_list: D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D054353:Perforin