Rare Diseases Symptoms Automatic Extraction

Newborn screening for SCID: where are we now?

[severe combined immunodeficiency]

Newborn screening (NBS) for severe T-cell lymphopenia/severe combined immunodeficiency using the T-cell receptor excision circle assay continues to expand in the USA and worldwide. Here, we will review why severe combined immunodeficiency is an excellent case for NBS, the outcomes of the first 6 years of screening, and dilemmas surrounding screening and management of infants detected by NBS. We will also discuss the future of NBS for primary immunodeficiencies.

Diseases presenting "lymphopenia" symptom

  • 22q11.2 deletion syndrome
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • omenn syndrome
  • severe combined immunodeficiency
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated