157 The challenges of recognition and diagnosis of APDS2 in a family with novel PIK3R1 variant

Maria Villavicencio, Elizabeth Beltran Carranza, Gretchen Homan, Monica Davis,David Evan Potts, Grace Blair, Brady Franson, Rahim Miller, Marta Toth,Monica Hajirawala, Panida Sriaroon,Manish Butte,Jolan Walter

Clinical Immunology(2024)

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关键词
APDS,Activated phosphoinositide 3-kinase delta syndrome,PIK3R1 gene,Inborn error of immunity
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