Information on subject 105256

Basic details

Sex: Female

Country: Switzerland

Population: German

Family ID: 210008tree icon

Father:

Mother:

Consanguinity: Unknown

Clin. status: Affected

Age of death: 53.0

Ref.ID & pub.codes
  • 2020 [214] Fam.AU:I.2(I.2)
  • 2025 [908] Fam.AM:I.2(153)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
NFKB1 EX11+1G>C IN11 c.1066+1G>C p.(Phe310Ilefs*76) splice_donor_variant Pathogenic PCdict. icon Likely

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Diarrheaarrow icon No
40.00 Hypogammaglobulinemiaarrow icon Yes
Unk. Recurrent upper respiratory tract infectionarrow icon Yes
Unk. Splenomegalyarrow icon Yes
Unk. Autoimmune cytopeniaarrow icon Yes
Unk. Lung diseasearrow icon Yes
Unk. Arthritisarrow icon No
Unk. Pneumoniaarrow icon Yes
Unk. Abscessarrow icon No
Unk. B-cell lymphomaarrow icon Yes
Unk. Lymphadenopathyarrow icon No
Unk. Hepatopathyarrow icon Yes
Unk. Septicaemiaarrow icon Yes
Unk. Vasculitisarrow icon No
Unk. Cardiovascular system abnormalityarrow icon No
Unk. Bronchiectasisarrow icon Yes
Unk. Nervous system abnormalityarrow icon No
Unk. Autoimmune thyroiditisarrow icon No
Unk. Hepatomegalyarrow icon Yes
Unk. Celiac diseasearrow icon No
Unk. Inflammation of the large intestinearrow icon No
Unk. Aphthous oral ulcerarrow icon No
Unk. Frequent skin infections arrow icon No
Unk. Atrophic gastritisarrow icon No
Unk. Unusual gastrointestinal infectionarrow icon Yes
Unk. Malignant neoplasmarrow icon Yes

Cell counts

Age Cell_type Cells/ul Ref.range Relative(%) Ref.range(%) Result

* Measured under treatment or HSCT.

Plasma proteins

Age Molecule[ℹ] Value Ref.range Result

[ℹ] shows name on hover
* Measured during IVIG or other treatment.

Phenotypic & functional assays

Age Parameter[ℹ] Result* Cells Methods[ℹ] Stimuli Ref.

[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover