title: Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.
abstract: OBJECTIVE
  To study the changes in the immunological status in 2 children with cartilage hair hypoplasia (CHH).
  
  
  METHODS
  A 4-6 year immunological follow-up from infancy.
  
  
  RESULTS
  In infancy the children presented a combined T cell and B cell immunodeficiency which partly resolved in time. Mitogen-induced T cell proliferation values fluctuated but lymphopenia has remained constant. Both patients had no recent thymic emigrants (TREC). Both children have suffered from a prolonged viral infection. Hypogammaglobulinemia normalized during the first years of life but both children have a specific antibody deficiency (SAD).
  
  
  CONCLUSIONS
  The changes in the immunological status in CHH patients emphasize the importance of a regular follow-up. SAD should be searched for in CHH. The absence of TRECs supports combined immunodeficiency and possible need of hematopoietic stem cell transplantation.
authors.affiliation: Department of Pediatrics, Turku University Hospital, PB 52, 20521, Turku, Finland, leena.kainulainen@tyks.fi.
authors.forename: Leena
authors.initials: L
authors.lastname: Kainulainen
authors.forename: Olli
authors.initials: O
authors.lastname: Lassila
authors.forename: Olli
authors.initials: O
authors.lastname: Ruuskanen
mesh_terms: D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006197:Hair / Q000002:abnormalities* / Q000276:immunology; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics / Q000276:immunology; D056724:Immunity, Humoral / Q000235:genetics / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D008213:Lymphocyte Activation / Q000276:immunology; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology / Q000628:therapy; D000081207:Primary Immunodeficiency Diseases