Immunodeficiency

Articles

• chronic granulomatous disease
  3 October 2003

  CGD

• AIDS
  7 April 2005

  Synopsis
  opportunistic infections
  cardiovascular lesions (#17163794#) myocarditis dilated cardiomyopathy pericardial effusion pericarditis left ventricle hypertrophy fibrocalcific arteriopathy aneurysms fibrocalcific lesions in medium-sized arteries and small vessels, mainly of the heart and brain vasculitis chronic inflammatory infiltrates in the the vasa vasorum of large arteries leukocytoclastic vasculitis
  central nervous system infections
  AIDS dementia
  adult-type (...)

• 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 (...)

• 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% (...)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• DCLRE1C-associated SCID
  16 June 2011

  Artemis-associated SCID

• 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 (...)

• autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
  26 January 2006

  Synopsis
  chronic diarrhea
  recurrent bronchopneumonitis
  hepatosplenomegaly
  failure to thrive
  Gram-positive and Gram-negative pyogenic bacteria infections
  dry skin, rough skin
  sparse scalp hair
  conical teeth
  Etiology
  germline mutations in gene NFKBIA (MIM.164008) at 14q13
  Refererences
  Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, (...)

• RAGs-associated SCID
  16 June 2011

  RAG1-associated SCID; RAG2-associated SCID; SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE

• immunodeficiency with hyper-IgM type 5
  26 January 2011

  HIGM5

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