DISEASE: Immunodeficiency without anhidrotic ectodermal dysplasia


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
Related
pathway
hsa04659  Th17 cell differentiation
hsa04658  Th1 and Th2 cell differentiation
hsa04668  TNF signaling pathway
hsa04620  Toll-like receptor signaling pathway
Gene
IKBKG [HSA:8517] [KO:K07210]
Other DBs
ICD-11: 4A0Y
MeSH: C536289
OMIM: 300584
Reference
PMID:16397577
  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
PMID:15577852
  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
PMID:15356572
  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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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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