10
Diagnosis
Innate immune defects
NEMO deficiency Severe bacterial infections, opportunistic infections,
anhidrotic ectodermal dysplasia
IRAK-4 defect Severe gram-positive bacterial infections in early childhood
CMCC Chronic skin and mucous membrane fungal infections
HSE Herpes simplex encephalitis
EV Severe disseminated cutaneous papillomatosis
Autoinflammatory
disorders
Episodic fever oen associated with dermatitis,
gastrointestinal symptoms, and arthropathy
Complement
deficiency
Recurrent bacterial infections (encapsulated strains,
Neisseria species), autoimmunity
Immunodeficiency associated with autoantibodies
Anti–GM-CSF
autoantibodies
Cryptococcal meningitis and PAP (alone or together)
Anti–IFN-γ
autoantibodies
Disseminated infections with mycobacteria, Salmonella
species, Cryptococcus species, Histoplasma species, Penicillium
species, and varicella-zoster virus
a
Many states are now screening for SCID (see SS 26). Some infants with DGS (and other
disorders) might be detected by this newborn screening. See Table 11 for abbreviations.
Table 1. Characteristic Clinical Presentations of Some
Immunodeficiency Disorders (cont'd)
