Rare Diseases Symptoms Automatic Extraction

The value of family history in diagnosing primary immunodeficiency disorders.

[omenn syndrome]

Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. We are presenting 2 cases where digging deeply into the family medical history resulted in the diagnosis of Omenn syndrome, a possibly fatal entity if not managed in a reasonable period.

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