Information on subject 101160

Basic details

Sex: Female

Country: Germany

Population:

Family ID: 211433

Father:

Mother:

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2021 [118] Fam.F101:P101

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
IMAD1 Infantile-Onset Multisystem Autoimmune Disease 1 ADdict. icon 73.00

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
PIK3C2A F133L EX2 c.399T>G p.Phe133Leu missense_variant Uncertain significance HETdict. icon Uncertain
NOD2 G908R EX8 c.2722G>C p.Gly908Arg missense_variant Risk allele HETdict. icon Likely
PIK3C2A N1669S EX33 c.5006A>G p.Asn1669Ser missense_variant Uncertain significance HETdict. icon Uncertain
STAT3 V667L EX21 c.1999G>T p.Val667Leu missense_variant Likely Pathogenic HETdict. icon Likely

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
63.00 Decreased IgA levelsarrow icon Yes severe
Unk. Decreased IgG levelsarrow icon Unclear
Unk. Decreased IgM levelsarrow icon No
Unk. Splenomegalyarrow icon Yes
Unk. Autoimmune cytopeniaarrow icon Yes
Unk. Enteropathyarrow icon Yes
Unk. Allergyarrow icon Yes
Unk. Non-Hodgkin lymphomaarrow icon Yes
Unk. Pneumoniaarrow icon Yes recurrent
Unk. Autoimmunityarrow icon Yes
Unk. Hematological neoplasmarrow icon Yes
Unk. Interstitial lung diseasearrow icon Yes
Unk. Hepatomegalyarrow icon Unclear
44.96 Varicella zoster virus infectionarrow icon Yes recurrent
Unk. (unusual) Viral infectionarrow icon Yes
Unk. (unusual) Bacterial 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