Congenital Defects of Phagocyte Number or Function Publisher



Yazdanpanah N ; Holland SM ; Malech HL ; Rezaei N
Source: Inborn Errors of Immunity: Definition, Diagnosis, and Management Published:2025

Abstract

Severe congenital neutropenia is a multigene disorder. Several monogenic diseases associated with congenital neutropenia have been described during last two decades. Complete blood cell count and differential formula, twice weekly over 6 weeks and anti-neutrophil antibodies are essential part of the ‘work up’ for patients with neutropenia. In the patients with impaired wound healing and wounds without puss, the diagnosis of motility defects, especially leukocyte adhesion deficiency should be considered. Late presentation of chronic granulomatous disease—‘mild’ or dramatic—does occur more often than we think. Mouth and teeth should be examined in the patients with phagocytes defects. The Algorithm Diagram 6.1 shows the congenital defects of phagocyte number or function. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2025.