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 "high rate" symptom

  • alpha-thalassemia
  • classical phenylketonuria
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cystinuria
  • dystrophic epidermolysis bullosa
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • krabbe disease
  • liposarcoma
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • thoracic outlet syndrome
  • trochlear dysplasia
  • x-linked adrenoleukodystrophy

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