35
Defects of the respiratory burst
Chronic granulomatous disease (CGD)
Î SS 151. CGD should be suspected in patients with deep-seated
granulomatous infections with bacteria and fungi. (C)
Î SS 152. Measurement of phagocyte oxidase activity should be the first
screening test for CGD. (C)
Î SS 153. Patients with CGD should be given prophylaxis with
antimicrobial agents and IFN-γ. (A)
Î SS 154. Granulocyte transfusions should be considered as a last-
resort therapy for the treatment of life-threatening infections in
patients with CGD. (C)
Î SS 155. In patients with CGD, aggressive surgical debridement is
indicated for abscesses unresponsive to medical therapy. (C)
Î SS 156. HSCT should be considered early in the course of CGD,
where possible. (C)
Mendelian susceptibility to mycobacterial disease (MSMD)
Î SS 157. Patients with severe tuberculous or atypical mycobacterial
infections, Salmonella species infections, or herpesvirus infections
and normal results on screening studies of humoral and cellular
immunity should be tested for genetic defects and autoantibodies
associated with MSMD. (C)
Î SS 158. Patients suspected of having MSMD should have
measurement of serum IFN-γ levels. (C)
Î SS 159. Management of MSMD should include vigilance for infection
and aggressive and prolonged therapy of infections when they occur. (C)
Î SS 160. Patients with partial IFNGR1/2 mutations and IL-12p40 or
IL-12 receptor β1 defects with nontuberculous mycobacterial disease
might benefit from adjunct therapy with subcutaneous IFN-γ. (C)
Î SS 161. HLA-identical sibling HSCT can be considered for therapy of
the IFNGR1/2 mutation. (C)
