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Pulmonary alveolar proteinosis (PAP)
Î SS 162. Patients with PAP should be tested for mutations in the genes
encoding the macrophage GM-CSF receptor, antibodies to GMCSF, or
both. (C)
Neutrophil/phagocytic cell defect, unspecified
Î SS 163. Any patient with recurrent infections and a demonstrable
isolated defect of phagocytic cell function who does not have any
of the above disorders should be considered to have an unspecified
phagocytic cell defect. (D)
GATA-2 Deficiency
Î SS 164. Patients with recurrent severe infections with bacteria,
mycobacteria, fungi, and viruses (especially papillomaviruses) and
very low numbers of monocytes, B cells, and NK cells should be
studied for GATA2 mutation. (C)
Phagocytic Cell Defects
