Information on subject 104453

Basic details

Sex: Female

Country: U.S.A.

Population: European

Family ID: 215530tree icon

Father: 104455

Mother: 104454

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2023 [832] Fam.D:II.1(P5)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
EOAI Early-onset atopic inflammation ADdict. icon 22.00 1.00

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
STAT6 D419N EX12 c.1255G>A p.Asp419Asn missense_variant Pathogenic HETdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
15.00 Diarrheaarrow icon Yes
5.00 (unusual) Respiratory tract infectionarrow icon Yes recurrent
Unk. Reduced number of B cellsarrow icon Yes
5.00 Pneumoniaarrow icon Yes recurrent
2.00 Asthmaarrow icon Yes severe chronic
Unk. Drug allergyarrow icon Yes
1.00 Atopic dermatitisarrow icon Yes severe
Unk. Eosinophiliaarrow icon Yes
Unk. Increased IgE levelsarrow icon Yes
22.00 Bronchiectasisarrow icon Yes
Unk. (unusual) Epstein-Barr virus infectionarrow icon Yes
Unk. Vulvovaginal candidiasisarrow icon Yes
1.00 Food allergyarrow icon Yes recurrent
15.00 Constipationarrow icon Yes
20.00 Eosinophilic esophagitisarrow icon Yes
15.00 Abdominal painarrow icon Yes
Unk. Joint hypermobilityarrow icon Yes
Unk. Hyperhomocystinemiaarrow icon Yes
20.00 Colonic eosinophiliaarrow icon Yes
1.00 Food-induced anaphylaxisarrow icon Yes recurrent

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.
Unk. STAT6 dephosphorylation kinetics decreased EBV-LCLarrow icon FCA IL-4 832

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