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

• Egile Nagusiak: Geoffrey Hall (Egilea), Ágnes Donkó (Egilea), Cristina Pratt (Egilea), Julie J. Kim-Chang (Egilea), Paul L. Martin (Egilea), Amy P. Stallings (Egilea), John W. Sleasman (Egilea), Steven M. Holland (Egilea), Amy P. Hsu (Egilea), Thomas L. Leto (Egilea), Talal Mousallem (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2024-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...