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 "common practice" symptom

  • cutaneous mastocytosis
  • omenn syndrome

You can validate or delete this automatically detected symptom