IL2RGbase Data Submission Form












IL2RGbase Genetics and Molecular Biology Branch DIR Projects

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.

Patient ID Number:

Mutation type:

Domain:

Exon/Intron Number:

Exon Intron Flag Exon Intron

cDNA Number (using transcription start site=1):

Mutation (e.g. cDNA 266C->G or cDNA 140del G):
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 Expression:

Clinical Data

Age dx:
Family history?:	YES NO
Ethnic origin:
Affected relatives and relationship:

Significant infections at or before presentation:
Failure to thrive:	YES NO
Diarrhea:	YES NO
Pneumonia:	YES NO
Sepsis:	YES NO
RSV:	YES NO
Rotavirus:	YES NO
CMV:	YES NO
Pneumocystis:	YES NO
Other Infections:
Non-infectious complications:

T cell percentage: T cell number/mm3:

B cell percentage: B cell number/mm3:

NK cell percentage: NK cell number:

PHA response (cpm): PHA control (cpm):

Maternal cells?: YES NO

Clinical spont.GVHD from maternal cells:

BMT age:

BMT type:

Preconditioning:

Outcome (one year post-transplant):

Latest follow-up time:

On IVIG?: YES NO

Latest T cell data:

Latest B cell data:

Submitter Data

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

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