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 "immunodeficiency" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • cushing syndrome
  • dracunculiasis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • legionellosis
  • malignant atrophic papulosis
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • severe combined immunodeficiency
  • sneddon syndrome
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated