Mutation submission to ELA2base
for Cyclic neutropenia
Please, note that it is the responsibility of the submitters to ascertain that they have
the right to submit the data and they have the necessary permissions, including the
consent from the patient or family.
The submitted data will be made publicly available on the database website.
If you want to submit confidential cases, please, contact the database curator.

Submitter

Name: (Obligatory)
Address:
Telephone: Fax:
E-mail: (Obligatory)
References
PubMed ID




Mutation Numbering by reference sequence entry

Mutation
description
Type 
Start number  Required
Reference seq 
Variant seq 

Patient

Background Original code  Family history 
Sex  (XY=male, XX=female) Age at diagnosis  years
Country of origin  Ethnic group 
Diagnosis
Symptoms Infections:
Fever
Malaise
Sepsis
Oral ulcers
Gingivitis
Tooth abscess
Pharyngitis
Tonsillitis
Otitis
Sinusitis
Mucosal infections
Skin infections
Necrotizing enterocolitis
Clostridium or E. coli colitis
Physical findings:
Anemia
Thrombocytopenia
Monocytosis
Eosinophilia
Myelodysplasia
Lymphadenopathy
Acute myeloid leukemia (AML)
 
Other symptoms, specify
Relatives

Laboratory Findings

Molecular
consequences
mRNA level  Protein level 
Kinase activity  Protein struct 
Immunoglobulin levels
(mg/ml or g/l)
(% of normal)
IgA  IgE  IgG  IgM 
IgG1  IgG2  IgG3  IgG4 
B cells  CD19  CD20 
Comments

Action


Submission instructions
ELA2base
Latest version: Wednesday, 19 February, 2014 10:31:7 by Gerard Schaafsma