Immunodeficiency

Articles

• 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

• 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, (...)

• X-linked agammaglobulinemia
  5 March 2004

  XLA, XLAG, Bruton’s agammaglobulinemia. Ent. Nom. Bruton, 1952.

• human immunodeficiency with microcephaly
  16 March 2007

  Physiopathology
  DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system.
  DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes.
  Failure to properly repair DSBs results in genetic instability, developmental delay, and various forms of (...)

• immunodeficiency with hyper-IgM type 1
  25 April 2005

  XHIGM; X-linked hyper-IgM syndrome; HIGM1: CD40L deficiency

• 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 (...)

• immunodeficiency with hyper-IgM type 3
  26 January 2011

  HIGM3

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• 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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