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Toll-like receptors (TLRs) and signaling defects leading to primary immunodeficiency

Toll-like receptors (TLRs) and signaling defects leading to primary immunodeficiency
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.



Adrenal insufficiency.
AR Pyogenic Ba (eg, S. pneumoniae or Haemophilus influenzae).

Autoinflammation (recurrent episodes of fever).


Muscular amylopectinosis.
DOCK8 AR Pyogenic Ba, V, F.

Autosomal recessive hyperimmunoglobulin E.

IRAK4: interleukin-1 receptor-associated kinase 4; MyD88: myeloid differentiation primary response protein 88; AR: autosomal recessive; TLR3: toll-like receptor 3; HSV: herpes simplex virus; TRIF: toll/interleukin-1 (IL-1) receptor (TIR) domain-containing adapter-inducing interferon-beta (IFN-beta); AD: autosomal dominant; TRAF3: tumor necrosis factor (TNF) receptor-associated factor 3; TBK1: tank-binding kinase 1; UNC93B1: UNC93 homolog B1; NEMO: nuclear factor (NF)-kappa-B essential modulator; IKK-gamma: inhibitor of NF-kappa-B kinase-gamma; Ba: bacteria; MB: mycobacteria; V: viral; F: fungal; Op: opportunistic infections; ED-ID: ectodermal dysplasia with immunodeficiency; NF: nuclear factor; HOIL-1: heme-oxidized iron-responsive element-binding protein 2 (IRP2) ubiquitin ligase 1, a component of the linear ubiquitination chain assembly complex (LUBAC); HOIP: the gene encoding the catalytic component of LUBAC; DOCK8: dedicator of cytokinesis 8.
Graphic 112782 Version 1.0

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