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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 2 مورد

Toll-like receptors (TLRs) and signaling defects leading to inborn errors of immunity

Toll-like receptors (TLRs) and signaling defects leading to inborn errors of immunity
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
MD2 AR
  • Recurrent pneumonia
  • Recurrent otitis media
  • Very-early-onset inflammatory bowel disease
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
  • Bacterial, mycobacterial, viral, fungal, and opportunistic infections
  • 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
  • Bacterial, mycobacterial, viral, fungal, and opportunistic infections
  • ED-ID
NF-kappa-B1 AD
  • Recurrent bacterial and viral infections
  • Hypogammaglobulinemia
NF-kappa-B2 AD
  • Bacterial, mycobacterial, viral, fungal, and opportunistic infections
  • Hypogammaglobulinemia
  • Autoimmunity
  • Adrenal insufficiency
HOIL-1
HOIP		 AR
  • Pyogenic bacterial infections (eg, S. pneumoniae or Haemophilus influenzae)
  • Autoinflammation (recurrent episodes of fever)
  • Hepatosplenomegaly
  • Muscular amylopectinosis
DOCK8 AR
  • Pyogenic bacterial, viral, and fungal infections
  • AR hyperimmunoglobulin E
  • Hypereosinophilia
AD: autosomal dominant; AR: autosomal recessive; ED-ID: ectodermal dysplasia with immunodeficiency; DOCK8: dedicator of cytokinesis 8; HOIL-1: heme-oxidized iron-responsive element-binding protein 2 ubiquitin ligase 1; HOIP: gene encoding the catalytic component of the linear ubiquination chain assembly complex (LUBAC); HSV: herpes simplex virus; IKK: inhibitor of nuclear factor kappa B kinase; IRAK4: interleukin 1 receptor-associated kinase 4; MD2: myeloid differentiation factor 2; MyD88: myeloid differentiation primary response protein 88; NEMO: nuclear factor kappa B essential modulator; NF: nuclear factor; TBK: tank-binding kinase 1; TLR: Toll-like receptor; TRAF: tumor necrosis factor receptor-associated factor 3; TRIF: Toll/interleukin 1 receptor domain-containing adapter-inducing interferon beta; UNC93B1: UNC93 homolog B1.
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