title: Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Department of Pediatrics, Malmi District Hospital, Pietarsaari, Finland.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Kostjukovits
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Paula
authors.initials: P
authors.lastname: Klemetti
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Helena
authors.initials: H
authors.lastname: Valta
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Timi
authors.initials: T
authors.lastname: Martelius
authors.affiliation: Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Adult Immunodeficiency Unit, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Seppänen
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
authors.forename: Mervi
authors.initials: M
authors.lastname: Taskinen
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland; Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address: outi.makitie@helsinki.fi.
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
mesh_terms: D000328:Adult; D015415:Biomarkers; D002648:Child; D015331:Cohort Studies; D005387:Finland; D006197:Hair / Q000002:abnormalities* / Q000276:immunology; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000276:immunology*; D006801:Humans; D007109:Immunity; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000276:immunology*; D007156:Immunologic Memory; D016130:Immunophenotyping; D016131:Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000276:immunology; D010641:Phenotype; D000081207:Primary Immunodeficiency Diseases
chemical_list: D015415:Biomarkers