Immunodeficiency

Articles

• mannose-binding protein deficiency
  29 March 2006

  Etiology
  germline mutations of MBL2 in mannose-binding protein deficiency (MIM.154545)

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• hypohidrotic ectodermal dysplasia with immune deficiency
  26 January 2011

  HED-ID

• chronic granulomatous disease
  3 October 2003

  CGD

• 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, (...)

• ICF syndrome
  19 March 2006

  immunodeficiency syndrome, chromosome instability, facial anomalies syndrome

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

  CD3zeta-associated primary T-cell immunodeficiency

• immunodeficiency with hyper-IgM type 3
  26 January 2011

  HIGM3

• immunodeficiency with hyper-IgM type 5
  26 January 2011

  HIGM5

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