Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients |
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Authors: | Leena Kainulainen Olli Lassila Olli Ruuskanen |
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Affiliation: | 1. Department of Pediatrics, Turku University Hospital, PB 52, 20521, Turku, Finland 2. Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland
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Abstract: | Purpose 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 transplantion. |
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