38
Defects of Innate Immunity
Defects of Nuclear factor κB essential modulator (NEMO)
Î SS 165. NEMO defects and related syndromes should be suspected
in patients with ectodermal dysplasia and severe viral, bacterial, and
atypical mycobacterial infections. (C)
Î SS 166. Patients suspected of having NEMO syndrome should have
measurement of NK cell and TLR responses in addition to routine
studies of humoral and cellular specific immune function. (C)
Î SS 167. Mycobacterial infection in patients with NEMO syndrome
should be treated with an aggressive antimicrobial regimen. (C)
Î SS 168. Patients with NEMO syndrome should receive IgG
replacement. (C)
Î SS 169. Antibacterial, antimycobacterial, Pneumocystis species, and
antiviral prophylaxis should be considered for patients with NEMO
syndrome. (C)
Î SS 170. HSCT should be considered for patients with NEMO syndrome. (C)
Other TLR signaling pathway defects
Î SS 171. IL-1 receptor–associated kinase 4 (IRAK-4) and myeloid
differentiation primary response 88 (MyD88) deficiencies should be
considered in patients with recurrent serious infections with Gram-
positive bacteria and normal levels of immunoglobulins, complement,
and phagocytic cells. (C)
Î SS 172. Deficiency of RanBP-type and C3HC4-type zinc finger
containing 1 (RBCK1) should be suspected in patients exhibiting
features of both autoinflammation and immunodeficiency. (C)
Î SS 173. Patients with suspected defects of TLR signaling should be
screened by measurement of TLR response in vitro. (C)
Î SS 174. Therapy for defects of TLR signaling should be directed
toward treatment and prevention of infection. (C)
Type I interferonopathies
Î SS 175. Aicardi-Goutières syndrome should be considered in cases of
neonatal presentation consistent with in utero toxoplasmosis, other
(syphilis, varicella, parvovirus B19), rubella, CMV, HSV (TORCH)
infection without evidence of infectious cause. (C)
Defects of Innate Immunity
