Information on subject 103485
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
IMD55 |
Immunodeficiency 55 | AR |
18.00 | -0.50 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| GINS1 |
R83C |
EX4 | c.247C>T | p.Arg83Cys | missense_variant | Pathogenic | HET |
Yes, part of genotype |
| GINS1 |
EX1-48C>G |
EX1 | c.-48C>G | 5_prime_utr_variant | Pathogenic | HET |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Diarrhea |
Yes | chronic | |
| 7.00 | Hypogammaglobulinemia |
Yes | ||
| Unk. | Recurrent lower respiratory tract infections |
Yes | ||
| 9.00 | Autoimmune hemolytic anemia |
Yes | recurrent | |
| 1.00 | Neutropenia |
Yes | mild | chronic |
| 13.00 | Pneumonia |
Yes | ||
| Unk. | Eczema |
Yes | ||
| Unk. | Atopic dermatitis |
Yes | ||
| 7.00 | Reduced NK cell number |
Yes | ||
| Unk. | Villous atrophy |
Yes | ||
| Unk. | Lymphadenopathy |
No | ||
| 5.00 | Glaucoma |
Yes | severe | progressive |
| 7.00 | Lymphopenia |
Yes | progressive | |
| 9.00 | Coombs Test Positive |
Yes | ||
| Unk. | Myelodysplasia |
Yes | ||
| Unk. | Food allergy |
Yes | ||
| Unk. | Facial dysmorphism |
Yes | mild | |
| Unk. | Recurrent gastrointestinal tract infections |
Yes | recurrent | |
| Unk. | Thin skin |
Yes | ||
| -0.50 | Intrauterine growth retardation |
Yes | severe | |
| Unk. | (unusual) Bacterial infection |
Yes | ||
| Unk. | Recurrent viral infections |
Yes | recurrent | |
| Unk. | Postnatal growth retardation |
Yes | severe | |
| 10.00 | Hemophagocytosis |
Yes | severe | |
| Unk. | Lipoatrophy |
Yes | ||
| 1.00 | Myeloid maturation arrest |
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. |
|---|---|---|---|---|---|---|
| Unk. | Cell proliferation | decreased | Fibroblasts |
CPA | Basal | 346 |
| Unk. | Cell death | normal | Fibroblasts |
CPA | Basal | 346 |
| Unk. | GINS1 mRNA expression | aberrant | Fibroblasts |
RT-PCR | Basal | 346 |
| Unk. | GINS1 protein expression | decreased | Fibroblasts |
WB | Basal | 346 |
| Unk. | GINS2 protein expression | normal | Fibroblasts |
WB | Basal | 346 |
| Unk. | GINS3 protein expression | decreased | Fibroblasts |
WB | Basal | 346 |
| Unk. | GINS4 protein expression | decreased | Fibroblasts |
WB | Basal | 346 |
| Unk. | MCM4 protein expression | normal | Fibroblasts |
WB | Basal | 346 |
| Unk. | Nuclear morphology | aberrant | Fibroblasts |
IF | Basal | 346 |
| Unk. | Senescence | increased | Fibroblasts |
ICC | Basal | 346 |
| Unk. | Replicative stress | increased | Fibroblasts |
WB | Hydroxyurea | 346 |
| Unk. | DNA damage | increased | Fibroblasts |
WB | Hydroxyurea | 346 |
| Unk. | DNA replication clusters | decreased | Fibroblasts |
DFCA | Basal | 346 |
| Unk. | DNA replication speed | increased | Fibroblasts |
DFCA | Basal | 346 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover