Immunodeficiencies

• RFXANK deficiency
  10 April 2012

  Pathology
  RFXANK deficiency
  References
  Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debré M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C. Blood. 2011 Nov 10;118(19):5108-18. PMID: (...)

• TLR3 deficiency
  10 April 2012

  TLR3
  The predicted 904-amino acid TLR3 protein contains the characteristic Toll motifs: an extracellular leucine-rich repeat (LRR) domain and a cytoplasmic interleukin-1 receptor-like region.
  Toll receprors in Drosophila
  In Drosophila, the Toll transmembrane receptor plays a central role in dorsal-ventral axis formation. In addition, the Toll pathway controls the induction of potent antimicrobial factors in the adult fly. This role in Drosophila immune defense has mechanistic parallels (...)

• TICAM1 deficiency
  10 April 2012

  TICAM1 deficiency (TRIF deficiency)
  Autosomal recessive (AR) UNC-93B and TLR3 deficiencies and autosomal dominant (AD) TLR3 and TRAF3 deficiencies underlie HSE in some children.
  The TRIF-dependent TLR4 and DExD/H-box helicase pathways are largely redundant in host defense.
  TRIF is important for the TLR3-dependent production of antiviral IFNs in the CNS during primary infection with HSV-1 in childhood.
  Pathology
  Herpes simplex encephalitis (HSE) Herpes simplex encephalitis (HSE) is (...)

• inborn errors of the IL-17-mediated immunity
  20 October 2011

  See also
  chronic mucocutaneous candidiasis

• TYK2 deficiency
  30 June 2011

  Only one individual has been identified with a hyper IgE phenotype associated with Tyk2 deficiency, which is characterized by nontuberculous mycobacterial infection.
  References
  Clinical manifestations of hyper IgE syndromes. Freeman AF, Holland SM. Dis Markers. 2010;29(3-4):123-30. PMID: #21178271#

• DOCK8 deficiency
  30 June 2011

  DOCK8 deficiency is characterized by severe cutaneous viral infections such as warts, and a predisposition to malignancies at a young age.
  Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia.
  Clinical findings included dermatitis, asthma, food and environmental allergies, (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• STAT3-associated hyper-IgE syndrome
  30 June 2011

  autosomal dominant hyper-IgE syndrome; Autosomal dominant hyper-IgE recurrent infection syndrome / Job-Buckley syndrome; autosomal dominant HIES; Job syndrome; autosomal-dominant hyper-IgE syndrome; STAT3 deficiency
  Definition: Autosomal dominant hyper-IgE recurrent infection syndrome is caused by mutation in the STAT3 gene (MIM.102582) (Job-Beckley syndrome).
  Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent (...)

• DCLRE1C-associated SCID
  16 June 2011

  Artemis-associated SCID

• ADA-associated SCID
  16 June 2011

  ADA-associated SCID is a T-, B-, NK- SCID (MIM.102700) caused by mutation in the ADA (MIM.608958) gene on 20q13.11
  See also
  severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID IL7R-associated SCID ADA-associated SCID T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p (DCLRE1C-associated SCID) T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (RAGs-associated SCID)
  Approximately 20 to 30% (...)

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