Phagocytes defects

Abstract

Severe congenital neutropenia is a syndrome due to various gene defects rather than an isolated disease entity; there are still a number of patients with no underlying gene defect. Complete blood cell count and differential formula, twice weekly over 6 weeks, and antineutrophil antibodies are essential part of the 'workup' for patients with neutropenia. In the patients with wounds without pus, the diagnosis of leukocyte adhesion deficiency should be considered as well as RAC-2, betaactin and specific granule deficiency. Mouth and teeth should be examined in the patients with phagocytes defects. Late presentation of chronic granulomatous disease - 'mild' or dramatic - does occur more often than we think. Think of other syndromes where neutropenia may be a part of the clinical presentation. © 2008 Springer Berlin Heidelberg.