Genetic defect | Inheritance | Infectious complications | Noninfectious clinical features |
Innate immunodeficiency | |||
IRAK4 or MyD88 | AR | Recurrent severe infections (cellulitis, arthritis, meningitis, osteomyelitis, organ abscesses, and sepsis), mostly affecting upper respiratory tract and skin. Most common organisms: Staphylococcus aureus, Streptococcus pneumoniae, Pseudomonas aeruginosa. The lack of significant fever in the setting of a serious bacterial infection can be a clue. | Presents in childhood; may improve with age if patient survives. |
TLR3 | AR | HSV encephalitis. | |
TRIF | AD, AR | HSV encephalitis. | |
TRAF3 | AD | HSV encephalitis. | |
TBK1 | AD | HSV encephalitis. | |
UNC93B1 | AR | HSV encephalitis. | |
Combined immunodeficiency | |||
NEMO/IKK-gamma | X-linked | Ba, MB, V, F, Op. Severity and range of infectious complications is variable. | Incontinentia pigmenti in female infants. Hypomorphic mutations in male infants often have (ED-ID). |
I-kappa-B-alpha | AD | Ba, MB, V, F, Op. | ED-ID. |
NF-kappa-B1 | AD | Recurrent Ba, V. | Hypogammaglobulinemia. |
NF-kappa-B2 | AD | Ba, MB, V, F, Op. | Hypogammaglobulinemia. Autoimmunity. Adrenal insufficiency. |
HOIL-1 HOIP | AR | Pyogenic Ba (eg, S. pneumoniae or Haemophilus influenzae). | Autoinflammation (recurrent episodes of fever). Hepatosplenomegaly. Muscular amylopectinosis. |
DOCK8 | AR | Pyogenic Ba, V, F. | Autosomal recessive hyperimmunoglobulin E. Hypereosinophilia. |
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