Atypical infections are the key clinical manifestation of<unk> . Within the first few years of life, patients will experience repeated pyogenic infections by species such as Staphylococcus aureus, Pseudomonas aeruginosa or other Enterobacteriaceae, and Candida albicans. Cutaneous ulcers or abscesses and pneumonia and chronic lung disease are common. Patients may also develop sepsis, mastoiditis, otitis media, and lymphadenopathy. Infants may present with vomiting, diarrhea, and failure to thrive. Diagnosis can be made based upon CEBPE gene mutation or a pathognomonic finding of a blood smear showing lack of<unk><unk> s.<unk> s and eosinophils will contain hyposegmented nuclei (a pseudo-Pelger–Huet anomaly).
Neutrophil-specific granule deficiency
Leukocyte adhesion molecule deficiency
Leukocyte adhesion deficiency
Humoral immune deficiency
Terminal complement pathway deficiency
IgG deficiency
Complement deficiency
T cell deficiency