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IKBKG

MIM.300248 Xq28

Thursday 26 January 2006

Pathology

- germline mutations in

  • incontinentia pigmenti type 2 (IP2) (MIM.308300)
  • OLEDAID (anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema) (MIM.300301)
  • HED-ID (X-linked hypohidrotic ectodermal dysplasia with immune deficiency) (MIM.300291)
  • hyper-IgM immunodeficiency with ectodermal dysplasia (MIM.300291)
  • pure immunodeficiency with no apparent development defect (MIM.300584)
  • X-linked susceptibility to mycobacterial disease (MIM.300636)
  • recurrent invasive pneumococcal disease (IPD2) (MIM.300640)

See also

- IKBKs

  • IKBKA, IKBKB, IKBKC, IKBKD, IKBKE, IKBKF, IKBKG

References

- Perkins ND. Integrating cell-signalling pathways with NF-kappaB and IKK function. Nat Rev Mol Cell Biol. 2007 Jan;8(1):49-62. PMID: 17183360

- Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, Bertrand Y, Couly G, Bodemer C, Bossuyt X, Picard C, Casanova JL. NEMO mutations in 2 unrelated boys with severe infections and conical teeth. Pediatrics. 2005 May;115(5):e615-9. PMID: 15833888

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