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Complement Deficiencies
Î SS 228. Patients with recurrent bacterial sinopulmonary infections
with or without autoimmune disease and with normal humoral
immunity should be screened for complement deficiency (C).
Î SS 229. Patients with characteristics of Carnevale-Mingarelli-
Malpuech-Michels syndrome (facial dysmorphism, growth deficiency,
cognitive impairment, hearing loss, craniosynostosis, radioulnar
synostosis, and eye and ear abnormalities) (3MC) should be evaluated
based on defects in the lectin pathway of complement activation. (C)
Î SS 230. Patients with susceptibility to neisserial infections should be
suspected of having a terminal pathway complement deficiency. (C)
Î SS 231. Patients with atypical HUS should be screened for
abnormalities of a complement regulatory protein. (C)
Î SS 232. Patients with Shiga toxin–negative HUS should be evaluated for
atypical HUS and tested for anti–factor H protein (CFH) autoantibodies
and deficiency of complement factor H–related protein (CFHR) 1-5. (C)
Î SS 233. Screening for defects of classical and terminal pathway
complement components should be performed by using the classical
pathway complement hemolysis 50% (CH50) assay. (C)
Î SS 234. Screening for possible defects of the alternative pathway
of complement should be with the alternative pathway complement
hemolysis 50% (AH50) assay. (C)
Î SS 235. Consideration can be given to screening lectin pathway
function in patients with recurrent bacterial sinopulmonary infections
who have normal humoral immunity and normal classical and
alternative complement function. (C)
Î SS 236. Immunization and antibiotic therapy should be the major
modes of treatment for complement deficiencies associated with
recurrent infections. (C)
Î SS 237. Autoimmune diseases associated with complement deficiency
are treated as they would be in other clinical settings. (C)
Anti-cytokine autoantibodies
Î SS 238. Patients with certain PIDD phenotypes who do not have
mutations in the genes known to be causative should be studied for
associated anti-cytokine autoantibodies. (C)
Î SS 239. In addition to therapy directed toward infectious and/or non–
cytokine-directed autoimmune complications in patients with these
disorders, patients with anti-cytokine autoantibodies might benefit
from therapy targeted to the anti-cytokine autoimmune response. (C)
Complement Deficiencies
Anti-Cytokine Autoantibodies
