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IDbases have been moved to Lund University and are available at

http://structure.bmc.lu.se/idbase/

They will remain for a while in this old address and will be removed in the future.

 

 

 

- databases for immunodeficiency-causing mutations

   NFKBIAbase
   Mutation registry for  Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency


Database        NFKBIAbase
Version         1.0
File            nfkbiapub.html
Date            16-Jun-2011
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen@uta.fi
URL             http://bioinf.uta.fi/NFKBIAbase/
FTP             ftp://protein.uta.fi/pub/nfkbiapub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF121.xml
Gene            NFKBIA
Disease         Autosomal dominant anhidrotic ectodermal dysplasia  
Disease         and T-cell immunodeficiency 
OMIM            164008
Sequence        IDRefSeq:D0063; IDRefSeq:C0063; UniProt:P25963 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              S32I(1); standard; MUTATION;
Accession       N0001
Systematic name g.1189G>T, c.95G>T, r.95g>u, p.Ser32Ile
Original code   Patient P
Description     A point mutation in the exon 1 leading to an amino acid
Description     change
Date            23-Dec-2003 (Rel. 3, Created)
Date            23-Dec-2003 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 14523047
RefAuthors      Courtois, G., Smahi, A., Reichenbach, J., Doffinger, R., 
RefAuthors      Cancrini, C., Bonnet, M., Puel, A., Chable-Bessia, C., 
RefAuthors      Yamaoka, S., Feinberg, J., Dupuis-Girod, S., Bodemer, C., 
RefAuthors      Livadiotti, S., Novelli, F., Rossi, P., Fischer, A., 
RefAuthors      Israƫl, A., Munnich, A., Le Deist, F., Casanova, J. L.
RefTitle        A hypermorphic ikappaBalpha mutation is associated with 
RefTitle        autosomal dominant anhidrotic ectodermal dysplasia and T 
RefTitle        cell immunodeficiency.
RefLoc          J Clin Invest 112:1108-1115 (2003)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0063: 1189
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: IDRefSeq: C0063: 189
Feature           /codon: agc -> atc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: UniProt: P25963; IKBA_HUMAN: 32
Feature           /change: S -> I
Sex             XY
Symptoms        Gastro-intestinal tract manifestations
Symptoms           Protracted diarrhea
Symptoms        Other clinical features: recurrent bronchopneumonitis,
Symptoms        hepatosplenomegaly, failure to thrive
Treatment       Prophylactic medication
Treatment          antibiotics: constant
Treatment       Total parenteral nutrition: Yes
Treatment       Bone marrow transplantation: Yes
IgA             <0.1 mg/dl
IgG             <1 mg/dl
IgM             5 mg/dl
Lymphocytes     Immunophenotypes: 
Lymphocytes        total CD3: 71%
Lymphocytes        total CD4: 53%
Lymphocytes        total CD4 CD45RA: 92%
Lymphocytes        total CD8 CD45RA: 71%
Lymphocytes        total CD4 CD45RO: 1%
Lymphocytes        total CD8 CD45RO: 0%
Lymphocytes        total CD19: 23%
Lymphocytes        total CD16 and CD56: 10%
//
ID              E14X(1); standard; MUTATION;
Accession       N0002
Systematic name g.1134G>T, c.40G>T, r.40g>u, p.Glu14X
Description     A point mutation in the exon 1 leading to a premature stop
Description     codon
Date            18-Aug-2010 (Rel. 3, Created)
Date            18-Aug-2010 (Rel. 3, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 18412279
RefAuthors      Lopez-Granados, E., Keenan, J. E., Kinney, M. C., Leo, H., 
RefAuthors      Jain, N., Ma, C. A., Quinones, R., Gelfand, E. W., Jain, 
RefAuthors      A.
RefTitle        A novel mutation in NFKBIA/IKBA results in a degradation-
RefTitle        resistant N-truncated protein and is associated with 
RefTitle        ectodermal dysplasia with immunodeficiency.
RefLoc          Hum Mutat:861-868 (2008)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0063: 1134
Feature           /change: g -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: M69043; GI:187290; HSMAD3A: 134
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: P25963; IKBA_HUMAN: 14
Feature           /change: E -> X
Symptoms        Lower respiratory tract infections
Symptoms        Sepsis
Symptoms           Bacterial
Symptoms        Gastro-intestinal tract manifestations
Symptoms           Protracted diarrhea
Symptoms        Other clinical features: absence of sweat glands
Symptoms        (Anhidrosis)
Sex             XY
Ethnic origin   Caucasoid
Parents         Non-consanguineous
IgA             38 mg/dl
IgG             515 mg/dl
IgM             33 mg/dl
Treatment       Prophylactic medication
Treatment          antibiotics: intermittent
//

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Last modified 16.06.2011