title: Cartilage-hair hypoplasia associated with IgG2 deficiency.
abstract: We report on a 1 year old boy with cartilage-hair hypoplasia (CHH). He suffered from recurrent upper respiratory infections and short-limbed dwarfism. As with most patients with CHH, he had impaired cellular immunity as determined by lymphocyte reactivity. In addition, he had a selective IgG2 deficiency. This combination of immunodeficiencies has not previously been reported for patients with CHH. His recurrent upper respiratory infections were likely to be associated with cellular immunodeficiency and IgG2 deficiency.
authors.affiliation: Department of Pediatrics, Kansai Medical University, Osaka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Kawasaki
authors.forename: U
authors.initials: U
authors.lastname: Kohdera
authors.forename: S
authors.initials: S
authors.lastname: Taniuchi
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
mesh_terms: D006801:Humans; D017099:IgG Deficiency; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000276:immunology*; D012141:Respiratory Tract Infections / Q000276:immunology