Omenn Syndrome Identified by Newborn Screening

Matthew Tallar; John Routes

doi:10.1016/j.clp.2019.09.004

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.

Authors

Matthew Tallar¹, John Routes²

Affiliations

¹ Pediatrics, Medical College of Wisconsin, 9000 West Wisconsin Avenue Suite 440, Milwaukee, WI 53226, USA. Electronic address: mtallar@mcw.edu.
² Pediatrics, Medical College of Wisconsin, 9000 West Wisconsin Avenue Suite 440, Milwaukee, WI 53226, USA.

PMID: 32000930
DOI: 10.1016/j.clp.2019.09.004

Abstract

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