Information on subject 104850

Basic details

Sex: Male

Country: Egypt

Population: Egyptian

Family ID: 215584

Father:

Mother:

Consanguinity: Yes

Clin. status: Affected

Age of death: deceased

Ref.ID & pub.codes

Genetic conditions

Code Condition's_name MOI [ℹ] AD/AS AFM Validity [ℹ]
OS2 Omenn syndrome 2 ARdict. icon 0.08 0.08

Genetic variants

Gene Var.name ⓘ Exon/Intron CDS_change Prot.change Var.type Var.class Zygosity Relevant
RAG1 R559S EX2 c.1677G>T p.Arg559Ser missense_variant Pathogenic HOMdict. icon Yes, part of genotype

Clinical manifestations

Age Sign/Symptom Present? Severity Presentation
0.08 Diarrheaarrow icon Yes severe progressive
0.08 Abnormal lymphoproliferationarrow icon Yes severe progressive
0.08 Septicaemiaarrow icon Yes severe progressive
0.08 Erythrodermaarrow icon Yes severe progressive

Cell counts

Age Cell_type Cells/ul Ref.range Relative(%) Ref.range(%) Result
0.08 B cellsarrow icon 28 300 - 3000 0.20 6.00 - 41.00 Low*
0.08 T cellsarrow icon 12446 1900 - 5900 88.00 49.00 - 76.00 High*
0.08 Lymphocytesarrow icon 14112 3400 - 9000 48.00 11.00 - 70.00 High*

* Measured under treatment or HSCT.

Plasma proteins

Age Molecule[ℹ] Value Ref.range Result
0.08 IgGarrow icon 508 286 - 1680 mg/dL Normal*
0.08 IgMarrow icon 129 21 - 192 mg/dL Normal*
0.08 IgEarrow icon 14700 1 - 150 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