Information on subject 101947

Basic details

Sex: Male

Country: Germany

Population:

Family ID: 211945

Father:

Mother:

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2021 [118] Fam.F348:P348

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
PTPN22 R263Q EX10 c.788G>A p.Arg263Gln missense_variant Risk allele HETdict. icon Uncertain
CARD11 R1133H EX25 c.3398G>A p.Arg1133His missense_variant Uncertain significance HETdict. icon Uncertain
CFTR L137P EX4 c.410T>C p.Leu137Pro missense_variant Uncertain significance HETdict. icon Uncertain

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Hypogammaglobulinemiaarrow icon Yes
Unk. Decreased IgA levelsarrow icon Yes
Unk. Decreased IgM levelsarrow icon Yes
Unk. Hypothyroidismarrow icon Yes
Unk. Reduced IgG2 levelsarrow icon Yes
28.82 (unusual) Epstein-Barr virus infectionarrow 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