Information on subject 101204
Basic details
Sex: Male
Country: Germany
Population: German
Consanguinity: No
Clin. status: Affected
Age of death:
Ref.ID & pub.codes
- 2021 [118] Fam.F126:P126
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
TTC7A |
S696P |
EX18 | c.2086T>C | p.Ser696Pro | missense_variant | Uncertain significance | HET |
Unassigned |
| TTC7A |
K606R |
EX16 | c.1817A>G | p.Lys606Arg | missense_variant | Uncertain significance | HET |
Unassigned |
| MPO |
EX12-2A>C |
IN11 | c.2031-2A>C | splice_acceptor_variant | Pathogenic | HET |
Unassigned | |
| CD40LG |
G219R |
EX5 | c.655G>A | p.Gly219Arg | missense_variant | Risk allele | HEM |
Unassigned |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Hypogammaglobulinemia |
Yes | ||
| 46.00 | Decreased IgA levels |
Yes | ||
| 46.00 | Decreased IgG levels |
Yes | ||
| 55.78 | Splenomegaly |
Yes | ||
| Unk. | Reduced proportion of naive CD4 T cells |
Yes | ||
| 54.04 | Intestinal lymphoid nodular hyperplasia |
Yes | ||
| 55.78 | Generalized lymphadenopathy |
Yes | ||
| Unk. | Bronchitis |
Yes | recurrent | |
| Unk. | Pneumonia |
Yes | ||
| Unk. | Granulomatosis |
Yes | ||
| Unk. | Sinusitis |
Yes | recurrent | |
| 55.05 | Lactose intolerance |
Yes | ||
| Unk. | Thrombocytopenia |
Yes | mild | |
| 55.05 | Vitiligo |
Yes | ||
| 6.00 | Inguinal hernia |
Yes | ||
| 55.04 | Elevated hepatic transaminases |
Yes | ||
| Unk. | Antinuclear antibodies |
No | ||
| 54.12 | Interstitial lung disease |
Yes | ||
| 44.78 | (unusual) Epstein-Barr virus infection |
Yes | ||
| 55.05 | Keratoconjunctivitis sicca |
Yes | ||
| Unk. | Varicella zoster virus infection |
Yes | ||
| Unk. | Cutaneous abscess |
Yes | ||
| 54.04 | Barrett esophagus |
Yes | ||
| Unk. | Antineutrophil antibodies |
No |
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