Case Report: Profound newborn leukopenia related to a novel RAC2 variant

• Главные авторы: Geoffrey Hall (Автор), Ágnes Donkó (Автор), Cristina Pratt (Автор), Julie J. Kim-Chang (Автор), Paul L. Martin (Автор), Amy P. Stallings (Автор), John W. Sleasman (Автор), Steven M. Holland (Автор), Amy P. Hsu (Автор), Thomas L. Leto (Автор), Talal Mousallem (Автор)
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• Опубликовано: Frontiers Media S.A., 2024-03-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia. He did not pass early confirmatory hearing screens. Initial blood counts and lymphocyte flow cytome...