To the Editor: Recently, a novel syndrome of combined immunodeficiency, allergy, and
''auto''inflammation caused by mutations in the ARPC1B gene has been reported. 1-4
Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization,
which resulted in a wide range of clinical manifestations and immunologic-hematologic
features. We report on the immunologic, cellular, and molecular phenotypes in 14 patients
with biallelic ARPC1B mutations and variable clinical presentations (Fig 1, A and B; see Fig …