Immunodeficiency

Articles

• LIG4 syndrome
  19 November 2003

  DNA ligase 4 deficiency

• 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, (...)

• 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 (...)

• 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 (...)

• 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 (...)

• JAK3-associated SCID
  16 June 2011

  T-, B+, NK- SCID (MIM. 600802) caused by mutation in the JAK3 gene (MIM.600173)
  See also
  severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23 (IL7R-associated SCID) T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11 (ADA-associated SCID) T-, B-, NK+ SCID with sensitivity to ionizing (...)

• autosomal recessive SCID
  16 June 2011

  autosomal recessive SCIDs

• 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% (...)

• IL2RG-associated SCID
  16 June 2011

  X-linked SCID; SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE; SCIDX; XSCID; SCID, X-LINKED; IMMUNODEFICIENCY 4; IMD4, SCIDX1

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