Rare Diseases Symptoms Automatic Extraction

A Perspective on IL-7Rα Deficient T-B+NK and Severe Combined Immunodeficiency.

[severe combined immunodeficiency]

The management of patients with IL-7Rα deficient, T-B+NK+ severe combined immunodeficiency (SCID) is a challenge in absence of adequate diagnostic and treatment modalities. An infant diagnosed as SCID at 6 months of age, who received only supportive treatment is described. We present a different perspective of SCID that is managed in a low-middle income country with lack of resources for definitive therapy.

Diseases presenting "severe combined immunodeficiency" symptom

  • achondroplasia
  • alpha-thalassemia
  • child syndrome
  • cholangiocarcinoma
  • junctional epidermolysis bullosa
  • krabbe disease
  • omenn syndrome
  • severe combined immunodeficiency
  • wiskott-aldrich syndrome

This symptom has already been validated