Information on subject 105974

Basic details

Sex: Male

Country: Japan

Population: Japanese

Family ID: 215918tree icon

Father:

Mother:

Consanguinity: Unknown

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2018 [112] Fam.W:I.1(W.I.1 (54))
  • 2018 [443] Fam.2:I.1(P2.1)
  • 2022 [1271] W.I.1 (54)
  • 2022 [1278] Fam.15:I.1(15.1)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
CHAI CTLA4 haploinsufficiency with autoimmune infiltration ADdict. icon 43.00 19.00 Definitive

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
CTLA4 Q12* EX1 c.34C>T p.Gln12Ter stop_gained Pathogenic HETdict. icon Yes, alone

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Hypogammaglobulinemiaarrow icon Yes mild
Unk. Decreased IgA levelsarrow icon Yes mild
Unk. Decreased IgG levelsarrow icon Yes mild
Unk. Decreased IgM levelsarrow icon Yes mild
Unk. Abnormal lymphoproliferationarrow icon Yes
Unk. Autoimmune hemolytic anemiaarrow icon Yes
Unk. Autoimmune thrombocytopeniaarrow icon Yes
Unk. Enteropathyarrow icon Yes
45.00 Encephalitisarrow icon Yes acute
Unk. Lymphadenopathyarrow icon Yes
Unk. Granulomatous-lymphocytic interstitial lung diseasearrow icon Yes
Unk. Herpes Simplex Virus Infectionarrow icon Yes
Unk. (unusual) Epstein-Barr virus infectionarrow icon Yes
45.00 Myelitisarrow icon Yes acute
Unk. Persistent EBV viremiaarrow icon No
Unk. Renal interstitial granulomasarrow 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
IgAarrow icon 95 130 - 450 mg/dL Low
IgGarrow icon 456 700 - 1600 mg/dL Low
IgMarrow icon 35 40 - 230 mg/dL Low
48.80 IgAarrow icon 95 132 - 252 mg/dL Low

[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