Omenn Syndrome Identified by Newborn Screening

Clin Perinatol. 2020 Mar;47(1):77-86. doi: 10.1016/j.clp.2019.09.004. Epub 2019 Sep 27.


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.

Keywords: Neonatal; Newborn screen; Omenn syndrome; RAG1; SCID; Severe combined immunodeficiency.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Humans
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Rare Diseases / therapy
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / therapy