title: An association of hypochondroplasia and immune deficiency.
abstract: A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.
authors.forename: Turkan
authors.initials: T
authors.lastname: Patıroglu
authors.forename: H Haluk
authors.initials: HH
authors.lastname: Akar
authors.forename: Deniz
authors.initials: D
authors.lastname: Okdemir
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoglu
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000276:immunology; D017252:CD3 Complex / Q000097:blood; D015704:CD4 Antigens / Q000097:blood; D002675:Child, Preschool; D004392:Dwarfism / Q000276:immunology*; D006801:Humans; D017098:IgA Deficiency / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D017880:Limb Deformities, Congenital / Q000276:immunology*; D008141:Lordosis / Q000276:immunology*; D016131:Lymphocyte Subsets / Q000166:cytology; D008297:Male; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics
chemical_list: D017252:CD3 Complex; D015704:CD4 Antigens; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3