New primary immunodeficiency with severe paucity of neutrophil granules despite normal granule protein levels (111.17)

• DOI: 10.4049/jimmunol.186.supp.111.17
• Publication Date: 2023-01-01T04:48:40Z
• Authors: Deema Ismail; Kwei Akuete; Niels Borregaard; Robert Hostoffer; Haig Tcheurekdjian
• Keywords: 0301 basic medicine; 03 medical and health sciences; 3. Good health

Abstract Neutrophil-specific granule deficiency is a rare congenital disorder, which manifests with severe, recurrent infections and is characterized by the absence of neutrophil specific granules and eosinophil granules. We describe a pathologically distinct primary immunodeficiency characterized by the near absence of all neutrophil granules but sparing of eosinophil granules. The subject is an 8 year old male with infections since birth including recurrent abscesses, chronic cellulitis, recurrent sinopulmonary infections, and profound dental decay. Lymphocyte phenotyping, T-cell and B-cell function, and assessment of neutrophil oxidative burst were normal. Leukocytes appear normal on light microscopy, but neutrophils in peripheral blood and bone marrow examined by electron mocroscopy contained few granules of any kind. Mean (standard deviation) number of granules per neutrophil of subject as compared to control were 1.4 (1.1) and 72.6 (31.4), respectively (p=0.0014). Nonetheless, granule proteins in neutrophil cell lysate were present in amounts comparable to controls. Eosinophils were morphologically normal. This is the first description of an immune deficiency due to near absence of neutrophil granules despite normal granule protein levels. This indicates a defect in granule production as opposed to a defect in granule protein production, which has previously been identified in neutrophil-specific granule deficiency.