13
Recommendation 5.7
➤ We recommend that patients with suspected chronic granulomatous
disease (CGD) have measurement of phagocyte oxidase activity and
genetic testing for CGD associated gene defects. (S-H)
Recommendation 5.8
➤ We recommend that patients with pulmonary alveolar proteinosis
(PAP) be tested for pathogenic variants in the genes encoding the
granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor
and for autoantibodies to GM-CSF. (S-H)
Defects of Innate Immunity
Recommendation 5.9
➤ We recommend that patients with suspected inherited susceptibility
to a specific pathogen(s) be investigated for associated gene defects
of innate immunity in addition to exclusion of adaptive immune
defects and secondary causes of immune defects. (S-M)
Defects of the Complement System
Recommendation 5.10
➤ We recommend that patients with recurrent or severe infections
by encapsulated bacteria and with normal antibody responses be
evaluated for complement deficiency. (S-H)
Recommendation 5.11
➤ We recommend that patients presenting with thrombocytopenia,
microangiopathic hemolytic anemia, and acute renal failure be
screened for abnormalities of complement regulatory proteins and/or
autoantibodies against complement Factor H (CFH). (S-H)
Recommendation 5.12
➤ We recommend genetic testing when complement function screening
is abnormal. (S-M)
