Disease

Articles

• granulomatosis with polyangiitis
  8 July 2005

  Wegener granulomatosis; GPA
  Definition: Wegener granulomatosis is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera.
  Images
  mastoid
  https://twitter.com/chioseasi/status/700798795068538880
  Wegener’s Granulomatosis in lung with vasculitis (...)

• sarcoidosis
  22 September 2003

  Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. WP
  Images
  hepatic sarcoidosis https://twitter.com/Hopkins_GI_Path/status/675402892036173826
  cutaneous sarcoidosis https://twitter.com/RyanHickMD/status/731249607909351424
  Sarcoidosis: all types of giant cells and endogenous inclusions occur, none are specific https://twitter.com/smlungpathguy/status/879435684540538884
  Links
  Sarcoidosis in (...)

• toxoplasmosis
  18 October 2005

  toxoplasmoses
  Images
  Toxoplasmosis https://twitter.com/DrFNA/status/874074976479059968
  nodal toxoplasmosis : triad: follicular hyperplasia, epithelioid histiocytes, monocytoid B cells https://twitter.com/KyleBradleyMD/status/732985021481529344 https://twitter.com/ClaireMurphyMD/status/778278146219008000 https://twitter.com/sam_albadri/status/821484580674928640
  cutaneous (...)

• hereditary hypofibrinogenemia
  6 August 2007

  Definition: Hypofibrinogenemia is a rare inherited disorder characterized by low levels of circulating fibrinogen, caused by mutations within 1 of the 3 fibrinogen genes.
  Etiology
  As hereditary afibrinogenemia, hereditary hypofibrinogenemia is the result of mutation in one or another of the 3 fibrinogen genes, alpha (FGA) (MIM.134820), beta (FGB) (MIM.134830), or gamma (FGG) (MIM.134850).
  Complete absence of detectable fibrinogen, true congenital afibrinogenemia, was first demonstrated (...)

• allograft rejection
  15 March 2004

  Digital case
  UI:774 : acute renal allograft rejection
  Transplant rejection involves several of the immunologic reactions. A major barrier to transplantation is the process of rejection, in which the recipient’s immune system recognizes the graft as being foreign and attacks it. One of the important goals of present-day immunologic research is successful transplantation of tissues in humans without rejection.
  Although the surgical expertise for the transplantation of skin, kidneys, heart, (...)

• isolated chronic mucocutaneous candidiasis
  26 January 2006

  References
  Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachee M, Casanova JL. Autosomal-dominant primary immunodeficiencies. Curr Opin Hematol. 2005 Jan;12(1):22-30. PMID: #15604887#

• systemic lupus erythematosus
  16 October 2003

  Definition: Systemic lupus erythematosus (SLE) is an autoimmune disease that is characterized by autoantibodies specific for highly conserved nuclear antigens, such as double-stranded DNA, histones and ribonuclear proteins.
  Digital case
  JRC:10585 : Cutaneous lupus erythematosus.
  Images
  LE cell in peritoneal fluid : https://twitter.com/pwraess/status/732709988368416768
  The requirements for the activation and response of self-reactive B cells — the source of autoantibodies — seem to be (...)

• familial juvenile systemic granulomatosis
  22 November 2004

  FJSG, arthrocutaneouveal granulomatosis, ACUG, JABS syndrome, Blau syndrome
  Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis.
  The phenotype of Blau syndrome has proven to be more complex than initially thought. The granulomatous character of Blau syndrome provides an opportunity to look at possible pathogenic effects of NOD2 ’gain of function’. (...)

• ICOS deficiency
  8 March 2005

  Adult-onset CVID of autosomal recessive inheritance caused by mutations in the inducible costimulator gene (ICOS) (MIM.605448)
  recurrent bacterial infections acute sinusitis acute otitis media conjunctivitis recurrent infectious pneumonia bronchiectasis digestive infection
  lymphadenopathy
  Biology
  Low plasma cells number in bone marrow
  Normal numbers of T cells
  Variable degree of T cell dysfunction
  Low numbers of surface immunoglobulin positive B cells
  Markedly reduced (...)

• acquired immune deficiency syndrome
  27 January 2005

  AIDS

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