Omenn Syndrome Identified by Newborn Screening - 28/01/20
, John Routes, MDRésumé |
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.
Le texte complet de cet article est disponible en PDF.Keywords : Neonatal, Severe combined immunodeficiency, SCID, Omenn syndrome, RAG1, Newborn screen
Plan
Vol 47 - N° 1
P. 77-86 - mars 2020 Retour au numéro
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- Rare Vesiculopustular Eruptions of the Neonatal Period
- Leah E. Lalor, Yvonne E. Chiu
- Congenital Diarrheal Syndromes
- Abdul Aziz Elkadri
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