A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
The Journal of allergy and clinical immunology（2019）
摘要
We report the natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency, delineating the spectrum of the disease that appears progressive and challenging to manage clinically.
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