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Figure 4. Diagnosis of Phagocyte Defects
4.1 Suspected
phagocytic cell
defect
4.4 Consider
SCN1-4 or
other syndromes
• 4.1 – The clinical presentation includes severe characteristic bacterial and/or
fungal infections affecting the lungs, skin, or viscera and is primarily suggestive of
a phagocyte defect, or evaluation of other immune function is thus far normal and
the clinical presentation is at least consistent with a possible phagocyte defect.
A CBC count with differential is necessary to show the absolute neutrophil count.
• 4.2 – The clinical presentation is one of infections limited to mycobacteria, severe
infections with Salmonella species, or both.
• 4.3 – In the case of 4.2, consider one of the disorders of MSMD.
• 4.4 – There is a marked leukocytosis, even in the absence of an ongoing infection.
• 4.5 – In the case of 4.4, consider LAD.
• 4.6 – The absolute neutrophil count is normal or there is a moderate leukocytosis,
perhaps with ongoing infection.
• 4.7 – Is neutrophil oxidative function abnormal?
• 4.8 – If the answer to 4.7 is yes, the diagnosis is CGD. If no, consider any of the
possibilities in 4.5 or 4.10.
• 4.9 – There is cyclic or persistent severe neutropenia.
• 4.10 – In the case of 4.9, consider a diagnosis of any of the neutropenic defects.
YES NO
4.2 Severe
bacterial and/or
fungal infections?
4.11
Consider
MSMD
4.8 CGD
YES
4.3 Cyclic or
persistent severe
neutropenia?
4.9 Consider other
defects based on clinical
features, see text
4.6 Consider leukocyte
adhesion defect
NO
NO
YES
NO
4.5
Leukocytosis?
YES
YES
4.10 Severe
mycobacterial
or Salmonella
infections?
NO
NO
4.7 Abnormal
oxidative burst?
Phagocytic Cell Defects
