Information on subject 104540
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
ADMIDX |
X-linked multisystem autoinflammatory disease with immune dysregulation | XLR |
6.50 | 5.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| DOCK11 |
R1366Q |
EX38 | c.4097G>A | p.Arg1366Gln | missense_variant | Pathogenic | HEM |
Yes, alone |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| 5.00 | Diarrhea |
Yes | recurrent | |
| Unk. | Decreased IgA levels |
No | ||
| Unk. | Decreased IgG levels |
No | ||
| Unk. | Decreased IgM levels |
No | ||
| Unk. | Reduced number of B cells |
Yes | ||
| Unk. | Increased IgM levels |
Yes | ||
| Unk. | Splenomegaly |
Yes | ||
| Unk. | Abnormal lymphoproliferation |
Yes | ||
| Unk. | Autoimmune thrombocytopenia |
Yes | mild | |
| Unk. | Neutropenia |
Yes | chronic | |
| Unk. | Increased proportion of transitional B cells |
Yes | ||
| Unk. | Increased proportion of CD21low B cells |
Yes | ||
| Unk. | Otitis media |
Yes | recurrent | |
| Unk. | Reduced NK cell number |
Yes | ||
| 5.50 | Autoimmune neutropenia |
Yes | ||
| Unk. | Lymphopenia |
Yes | ||
| 5.00 | Myalgia |
Yes | recurrent | |
| Unk. | Coombs Test Positive |
Yes | ||
| Unk. | Reduced T cell count |
Yes | ||
| Unk. | Hypergammaglobulinaemia |
Yes | ||
| Unk. | Microcytic anemia |
Yes | ||
| Unk. | Increased IgG level |
Yes | ||
| Unk. | Increased IgA levels |
Yes | ||
| Unk. | Gingivitis |
Yes | chronic | |
| Unk. | Oral ulcer |
Yes | ||
| 5.00 | Recurrent fevers |
Yes | ||
| Unk. | Cellulitis |
Yes | recurrent | |
| 5.50 | Antineutrophil antibodies |
Yes | ||
| 5.50 | Ecthyma gangrenosum |
Yes | ||
| Unk. | Anal ulcer |
Yes |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| Platelets |
139900 | 150000 - 400000 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| IgA |
300 | 40 - 160 mg/dL | High | |
| IgG |
2700 | 550 - 1115 mg/dL | High | |
| IgM |
700 | 50 - 150 mg/dL | High |
[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 size | 📊 normal | Platelets |
EM, FCA | Basal | 823 |
| Unk. | Cell morphology | 📊 normal | Platelets |
EM | Basal | 823 |
| Unk. | Cell migration velocity | 📊 increased | T cells |
CMA | Basal | 823 |
| Unk. | DOCK11 protein expression | 📊 decreased | T cells |
WB | Basal | 823 |
| Unk. | DOCK11 protein expression | 📊 normal | Platelets |
WB | Basal | 823 |
| Unk. | Cdc42 activity | 📊 decreased | Platelets |
G-LISA | Basal | 823 |
[ℹ] shows more on hover
* Compared to WT controls
📊 shows raw values on hover