| H01245 | |
| H number | H01245 |
| 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 |
| Network | - |
| Gene | IKBKG [HSA:8517] [KO:K07210] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 |