Mutation submission to FOXN1base
for T-cell immunodeficiency, congenital alopecia, and nail dystrophy
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.


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

Mutation Numbering by reference sequence entry

Heterozygous Homozygous
Allele 1   Allele 2
Type    Type 
Start number  Required   Start number  Required
Reference seq    Reference seq 
Variant seq    Variant seq 


Background Original code  Family history 
Sex  (XY=male, XX=female) Age at onset  years
Country of origin  Ethnic group 
  Consanguinity No Yes Not known
Other affected family members? No Yes
If yes, phenotype (as compared to index case):
Clinical phenotype
Date diagnosis made Current situation: Alive Deceased
Date of death  Cause of death 
Site of infections:
Respiratory tract (specify):
Gastrointestinal tract (specify):
Skin (specify):
Other (specify):
Congenital alopecia: of scalp
  of eye brows
  of eye lashes
Nail dystrophy: leuconychia
  canaliform onychodystrophy
  Beau's line
Thymus (NMR):  
Other clinical features(specify):
(prior to BMT)

Hematological and immune situation (prior to BMT)

WBC Date x103/mm3
Lymphocyte Date x103/mm3
Anemia Date
Thrombocytopenia Date
Neutropenia Date


total CD3 Date /mm3
total CD4 Date /mm3
total CD4 CD45RA Date /mm3
total CD8 CD45RA Date /mm3
total CD4 CD45RO Date /mm3
total CD8 CD45RO Date /mm3
total CD19 Date /mm3
total CD56 Date /mm3
Lymphocyte proliferation (compared to controls):
       PHA date PwM date
anti-CD3 date  
T-cell activation markers:
CD3 CD25 upon stimulation date

- Constitutively increased

CD3 CD71 upon stimulation date
- Constitutively increased
CD3 HLADR upon stimulation date
- Constitutively increased
Immunoglobulins (closest to diagnosis): date
IgG mg/dl
compare with "normal for age"
IgM mg/dl
compare with "normal for age"
IgA mg/dl
compare with "normal for age"
 IgE kU/dl
compare with "normal for age"
Antibody responses:
Blood group Isoagglutinins: anti-A anti-B
anti-D/T: Date anti-HBsAg: Date
Other (specify):
Other (specify):
Autoantibodies towards:
Neutrophil Platelet Red blood cells
Other (specify):

Bone marrow transplantation:  No Yes, Date:
  Donor:   T-cell chimerism:
Source: full marrow   T-depleted    CD34+ cells:
Immunological reconstitution:
If persistent, CD4 CD45RA CD8 CD45RA
PHA response at 5 years post BMT

Other treatments (specify):


Submission instructions
Latest version: Wednesday, 19 February, 2014 10:31:8 by Gerard Schaafsma