Omenn Syndrome Identified by Newborn Screening

• Autores: Matthew Tallar, John Routes
• Localización: Clinics in Perinatology, ISSN 0095-5108, Vol. 47, Nº. 1, 2020 (Ejemplar dedicado a: Undiagnosed and Rare Diseases), págs. 77-86
• Idioma: inglés
• Enlaces
  • Texto completo
• Resumen

  • Severe combined immunodeficiency (SCID) encompasses a group of genetic defects. T cell development is universally affected and has alteration of B and/or NK cells. We present the case of a 5-day-old boy with combined heterozygous frame shift (c.256_257del, p.(Lys86Valfs*33)) and missense (c.1186C>T, p.(Arg396Cys)) variations in the RAG1 gene. He was admitted to our institution because of 0 TREC on Newborn Screen and worsening rash. Initially thought to have Omenn syndrome versus maternal engraftment with graft versus host disease, DNA analysis identified the noted mutations and he subsequently received a bone marrow transplant from a matched sibling.