title: IgG4 deficiency with Rothmund-Thomson syndrome: a case report.
abstract: We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.
authors.affiliation: Department of Paediatrics, Kyoto University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kubota
authors.forename: M
authors.initials: M
authors.lastname: Yasunaga
authors.forename: H
authors.initials: H
authors.lastname: Hashimoto
authors.forename: H
authors.initials: H
authors.lastname: Kimata
authors.forename: H
authors.initials: H
authors.lastname: Mikawa
authors.forename: A
authors.initials: A
authors.lastname: Shinya
authors.forename: C
authors.initials: C
authors.lastname: Nishigori
mesh_terms: D002675:Child, Preschool; D006801:Humans; D017099:IgG Deficiency / Q000150:complications* / Q000276:immunology; D007074:Immunoglobulin G / Q000096:biosynthesis / Q000097:blood; D007963:Leukocytes, Mononuclear; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000276:immunology
chemical_list: D007074:Immunoglobulin G