Information on subject 105902

Basic details

Sex: Female

Country: France

Population: Caucasian

Family ID: 215903tree icon

Father: 105904

Mother: 105905

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2023 [1124] Fam.A:II.1(elder-sister)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
HIES1 Hyper-IgE recurrent infection syndrome 1 ADdict. icon 18.00 6.00 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
STAT3 P356R EX11 c.1067C>G p.Pro356Arg missense_variant Pathogenic HETdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
11.00 Arthritisarrow icon Yes
Unk. Pneumoniaarrow icon Yes recurrent
Unk. Eczemaarrow icon Yes
11.00 Myalgiaarrow icon Yes chronic
Unk. Increased IgE levelsarrow icon Yes
Unk. (unusual) Urinary tract infectionarrow icon Yes recurrent
Unk. Cutaneous abscessarrow icon Yes recurrent
Unk. Aphthous oral ulcerarrow icon Yes recurrent
Unk. Skin rasharrow icon Yes
Unk. Acrocyanosisarrow icon Yes
11.00 Recurrent feversarrow icon Yes
16.00 Acute hepatitisarrow 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
IgEarrow icon 1950 1 - 100 IU/ml High

[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