Immunodeficiency

Articles

• CD3Z-associated primary T-cell immunodeficiency
  16 March 2007

  CD3zeta-associated primary T-cell immunodeficiency

• immunodeficiency with hyper-IgM type 5
  26 January 2011

  HIGM5

• immunodeficiency with hyper-IgM type 3
  26 January 2011

  HIGM3

• hypohidrotic ectodermal dysplasia with immune deficiency
  26 January 2011

  HED-ID

• IRAK4 deficiency
  20 April 2011

  Definition: Deiciency of interleukin-1 receptor-associated kinase 4 (IRAK4).
  Synopsis
  recurrent bacterial infections
  Gram-positive Streptococcus pneumoniae
  Staphylococcus aureus
  recurring fungal infections
  poor inflammatory response
  extracellular, pyogenic bacteria infections
  Etiology
  IRAK4 deficiency by germline mutations in the IRAK4 gene (MIM.606883)
  See also
  IRAKs
  References
  Lavine E, Somech R, Zhang JY, Puel A, Bossuyt X, Picard C, Casanova JL, Roifman CM. (...)

• familial atypical mycobacteriosis
  9 May 2008

  familial disseminated atypical mycobacterial infection

• immunodeficiency with hyper-IgM type 4
  26 January 2011

  HIGM4

• 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 (...)

• 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, (...)

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