LAD with RAC2 deficiency

Patients with neutrophil immunodeficiency syndrome presented severe bacterial infections and poor wound healing, delayed umbilical cord separation, perirectal abscesses, failure to heal surgical wounds, and absent pus at sites of infection in the setting of neutrophilia. Patient shows leukocytosis and neutrophilia, normal levels of serum immunoglobulins, normal complement activity (CH50 and C3), and low-normal numbers of total T and B cells, as well as T-cell subsets for his age. Neutrophils exhibit decreased chemotaxis, polarization, azurophilic granule secretion, and superoxide anion production.