Rare Diseases Symptoms Automatic Extraction

Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.

[hirschsprung disease]

To study the changes in the immunological status in 2 children with cartilage hair hypoplasia (CHH).A 4-6 year immunological follow-up from infancy.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).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.

Diseases presenting "possible need of hematopoietic stem cell transplantation" symptom

  • hirschsprung disease

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