National Human Genome Research Institute National Human Genome Research Institute National Human Genome Research Institute National Institutes of Health
   
       Home | About NHGRI | Newsroom | Staff
Research Grants Health Policy & Ethics Educational Resources Careers & Training


Intramural Research > Online Research Resources > X-linked SCID mutation database (IL2RGbase)

X-linked SCID mutation database (IL2RGbase)

Database Submission Form

Data may be submitted to IL2RGbase by completing the form below. Information submitted will be reviewed before being added to the database.


Investigator Email (REQUIRED for submission):


Patient ID Number:
Mutation type:
Domain:
Exon/Intron Number:
Exon Intron Flag Exon   Intron
cDNA Number(using transcription start site=1):
Amino acid containing mutation, or first amino acid disrupted by mutation(first methionine residue counts as position 1):
Result of mutation:
mRNA Detected
Cell Surface

Clinical Data

Age dx:
Family history?: YES   NO
Ethnic origin:
Affected relatives and relationship:
Significant infectious agents at or before presentation:

Laboratory Data

T cell percentage: T cell number/mm3:
B cell percentage: B cell number/mm3:
NK cell percentage: NK cell number:
PHA response: Control(cpm):

Maternal cells?: YES   NO
Clinical spont.GVHD from maternal cells:
BMT age:
BMT type:
Preconditioning:
Outcome (one year post-transplant):
On IVIG?: YES   NO
Follow-up B and T functional data:

Submitter Data

Referring Investigator:
Referring Laboratory:
Reference (if published):
Comments:

Last modified: Wednesday, 22-Oct-2008 11:36:21 EDT


Comments, suggestions and problems to bioinformatics@nhgri.nih.gov


Genome.gov privacy policyPrivacy Genome.gov contact informationContact Genome.gov accessibility informationAccessibility Genome.gov site indexSite Index Genome.gov staff directoryStaff Directory Genome.gov home pageHome Government Links Department of Health and Human Services FirstGov National Institutes of Health