Database        BLNKbase
Version         1.0
File            blnkpub.html
Date            16-Jun-2011
Curator         Mauno Vihinen
Address         Protein Structure and Bioinformatics 
Address         Lund University, BMC D10, SE-22184 Lund, Sweden
Phone           +46 72 526 0022
Fax             +46 46 222 9328
Email           Mauno Vihinen
URL             http://structure.bmc.lu.se/idbase/BLNKbase/
IDR factfile    http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF24.html
Gene            BLNK
Disease         BLNK deficiency 
OMIM            604515
GDB             11504298
Sequence        IDRefSeq:D0005; IDRefSeq:C0005; UniProt:O75498 
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
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ID              Intron 1(1),Intron 1(1); standard; MUTATION;
Accession       B0001
Systematic name Allele 1 and 2: g.IVS1+3A>T
Original code   20-year-old male
Description     Allele 1 and 2: point mutation in the intron 1 leading to 
Description     aberrant splicing
Date            09-Jan-2003 (Rel. 1, Created)
Date            09-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 10583958
RefAuthors      Minegishi, Y., Rohrer, J., Coustan-Smith, E., Lederman, H. 
RefAuthors      M., Pappu, R., Campana, D., Chan, A. C., Conley, M. E.
RefTitle        An essential role for BLNK in human B cell development.
RefLoc          Science 286:1954-1957 (1999)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0005: 10199
Feature           /change: a -> t
Feature           /genomic_region: intron; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0005: 10199
Feature           /change: a -> t
Feature           /genomic_region: intron; 1
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: unknown
Feature           /inexloc: +3
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: unknown
Protein exp.    Reduction or absence in BLNK transcripts and  
Protein exp.    therefore in BLNK protein
Symptoms        Infections: 
Symptoms           Bacterial: pneumonia
Symptoms        Liver/biliary tract abnormalities
Symptoms           Hepatitis C (acquired from IVIG)
Symptoms        Other clinical features: chronic otitis and sinusitis, 
Symptoms        protein-losing enteropathy
Treatment       IVIG: constant
Sex             XY
Age             16 months
Relative        Description of pedigree: Parents heterozygous
Comment         -!-An older brother developed recurrent otitis at 6 months
Comment         of age and died at 16 months of age of pseudomonas sepsis 
Comment         and neutropenia
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