Multiple Intestinal Atresia with Combined Immunodeficiency, a New Gene Arises

James Readler,Jessica Ogawa,Vincent Cruz,Shahrazad Saab,Joao Pedro Matias Lopes

Clinical immunology（2023）

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摘要

We present here a single case report of a 2-day-old female born to a 29-year-old G4P3→4 Swartzentruber Amish mother at 35 weeks gestation that presented with abdominal distension and failure to pass meconium.

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关键词

Multiple Intestinal Atresia,Combined Immune Deficiency,PI4KA,Gastrointestinal Defects and Immunodeficiency Syndrome 2

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