Immunodeficiency

Articles

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• X-linked agammaglobulinemia
  5 March 2004

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

• chronic granulomatous disease
  3 October 2003

  CGD

• 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 (...)

• OLEDAID
  26 January 2006

  X-linked anhidrotic ectodermal dysplasia with immunodeficiency; X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency; XL-EDA-ID; OL-EDA-ID; anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema

• 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, (...)

• common variable immune deficiency
  7 March 2005

  CVID, common variable hypogammaglobulinemia, late-onset hypogammaglobulinemia, common variable immunodeficiency. Ent. Janeway, 1953.

• LIG4 syndrome
  19 November 2003

  DNA ligase 4 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 (...)

• hemophagocytic lymphohistiocytosis
  22 February 2005

  FHLs, HPLH, HLH, familial erythrophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytoses
  Definition: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.
  Images
  hepatic erythrophagocytosis in hemophagocytic lymphohistiocytosis
  https://twitter.com/GIPathologyURMC/status/889533077118214144
  See also
  erythrophagocytosis
  hepatic erythrophagocytosis
  Hemophagocytic (...)

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