KEGG   DISEASE: Immunodeficiency without anhidrotic ectodermal dysplasiaHelp
Entry
H01245                      Disease                                

Name
Immunodeficiency without anhidrotic ectodermal dysplasia
Description
A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoietic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01245  Immunodeficiency without anhidrotic ectodermal dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A0Y  Other specified primary immunodeficiencies
    H01245  Immunodeficiency without anhidrotic ectodermal dysplasia
BRITE hierarchy
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-11: 4A0Y
MeSH: C536289
OMIM: 300584
Reference
  Authors
Courtois G, Smahi A
  Title
NF-kappaB-related genetic diseases.
  Journal
Cell Death Differ 13:843-51 (2006)
DOI:10.1038/sj.cdd.4401841
Reference
  Authors
Niehues T, Reichenbach J, Neubert J, Gudowius S, Puel A, Horneff G, Lainka E, Dirksen U, Schroten H, Doffinger R, Casanova JL, Wahn V
  Title
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
  Journal
J Allergy Clin Immunol 114:1456-62 (2004)
DOI:10.1016/j.jaci.2004.08.047
Reference
  Authors
Orange JS, Levy O, Brodeur SR, Krzewski K, Roy RM, Niemela JE, Fleisher TA, Bonilla FA, Geha RS
  Title
Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
  Journal
J Allergy Clin Immunol 114:650-6 (2004)
DOI:10.1016/j.jaci.2004.06.052

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