Immunodeficiency

Articles

• chronic granulomatous disease
  3 October 2003

  CGD

• ICF syndrome
  19 March 2006

  immunodeficiency syndrome, chromosome instability, facial anomalies syndrome

• IL7R-associated SCID
  16 June 2011

  IL7R-associated SCID is a T-, B+, NK+ SCID (MIM.608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (MIM.151460) on 1q31-q32, or the CD3D gene (MIM.186790) on 11q23.
  See also
  severe combined immunodeficiency (SCID) recessive SCID JAK3-associated SCID 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 radiation caused by mutation in the Artemis (...)

• 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 (...)

• 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 (...)

• 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

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• 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 (...)

• 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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