Information on subject 105926

Basic details

Sex: Male

Country: Japan

Population: Japanese

Family ID: 215909tree icon

Father: 105929

Mother: 105930

Consanguinity: No

Clin. status: Affected

Age of death:

Ref.ID & pub.codes
  • 2018 [112] Fam.N:III.2(N.III.2 (41))
  • 2022 [1271] N.III.2 (41)
  • 2022 [1278] Fam.12:III.2(12.4)

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
CHAI CTLA4 haploinsufficiency with autoimmune infiltration ADdict. icon 10.00 10.00 Possible

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
CTLA4 Y177* EX3 c.530dup p.Tyr177Ter stop_gained Likely Pathogenic HETdict. icon Likely

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
Unk. Hypogammaglobulinemiaarrow icon Yes
Unk. Central nervous system abnormalityarrow icon Yes
Unk. Decreased IgA levelsarrow icon Yes
Unk. Decreased IgG levelsarrow icon Yes
Unk. Recurrent lower respiratory tract infectionsarrow icon Yes
Unk. Recurrent upper respiratory tract infectionarrow icon Yes
Unk. Decreased IgM levelsarrow icon Yes
Unk. Splenomegalyarrow icon Yes
Unk. Abnormal lymphoproliferationarrow icon Yes
Unk. Autoimmune thrombocytopeniaarrow icon Yes
Unk. Encephalitisarrow icon Yes
Unk. Pulmonary granulomatosisarrow icon Yes
Unk. Arthritisarrow icon Yes
Unk. Pneumoniaarrow icon Yes
Unk. Cytomegalovirus Infection Reactivationarrow icon Yes
Unk. Lymphadenopathyarrow icon Yes
Unk. Autoimmune neutropeniaarrow icon Yes
Unk. Lymphopeniaarrow icon Yes
Unk. Exocrine pancreatic insufficiencyarrow icon Yes
Unk. Nervous system abnormalityarrow 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
Unk. Henoch-Schönlein Purpuraarrow icon Yes
Unk. cerebral granulomatosisarrow icon Yes
Unk. Headachesarrow icon No
Unk. Paraplegiaarrow icon Yes
Unk. Brain lymphocytic infiltrationarrow icon Yes
Unk. Neurogenic bladderarrow icon Yes
Unk. Vomitingarrow icon Yes
Unk. Enlargement of parotid glandarrow icon Yes
Unk. Hematopoietic stem cell transplantationarrow icon Yes
Unk. Triggered by EBV 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