Information on subject 105209

Basic details

Sex: Male

Country: Finland

Population: Finnish

Family ID: 215666tree icon

Father: 105207

Mother: 105208

Consanguinity: No

Clin. status: Affected

Age of death: 39.0

Ref.ID & pub.codes
  • 2017 [902] Fam.1:II.1(F1.II-1)
  • 2020 [214] Fam.F1:II.1(II.1)
  • 2022 [1100] Fam.H67R:II.1(H67R/1)
  • 2023 [910] Fam.6:II.1(F6:II:1)
  • 2025 [908] Fam.AQ:II.1(171)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
CVID12 NFKB1 insufficiency ADdict. icon 39.00 5.00 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
NFKB1 H67R EX5 c.200A>G p.His67Arg missense_variant Pathogenic OCdict. icon Likely

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Diarrheaarrow icon No
Unk. Recurrent upper respiratory tract infectionarrow icon Yes
Unk. Autoimmune cytopeniaarrow icon No
39.00 Enteropathyarrow icon No
Unk. Arthritisarrow icon No
39.00 cholelithiasisarrow icon Yes fatal acute
39.00 Pneumoniaarrow icon Yes fatal acute
Unk. Abscessarrow icon Yes
Unk. Hepatopathyarrow icon No
39.00 Septicaemiaarrow icon Yes fatal acute
Unk. Vasculitisarrow icon No
Unk. Cardiovascular system abnormalityarrow icon No
Unk. Nervous system abnormalityarrow icon No
Unk. Autoimmune thyroiditisarrow icon No
Unk. Pancreatitisarrow icon Yes chronic
39.00 Pancreatitisarrow icon Yes acute
Unk. Celiac diseasearrow icon No
Unk. Inflammation of the large intestinearrow icon No
39.00 Aphthous oral ulcerarrow icon No
Unk. Frequent skin infections arrow icon Yes
39.00 Cholecystitisarrow icon Yes fatal acute
Unk. Recurrent feversarrow icon Yes
Unk. Atrophic gastritisarrow icon No
Unk. Duodenal ulcerarrow icon Yes severe
39.00 Esophageal ulcerationarrow icon No
39.00 Pancreatic abscessarrow icon Yes acute
Unk. Unusual gastrointestinal infectionarrow icon No
39.00 Systemic autoinflammationarrow icon Yes
Unk. Malignant neoplasmarrow icon No

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