Information on subject 103542
Basic details
Genetic conditions
| Code | Condition's_name | MOI [ℹ] | AD/AS | AFM | Validity [ℹ] |
|---|---|---|---|---|---|
IMD71 |
ARPC1B deficiency | AR |
13.00 | 5.00 |
Genetic variants
| Gene | Var.name ⓘ | Exon/Intron | CDS_change | Prot.change | Var.type | Var.class | Zygosity | Relevant |
|---|---|---|---|---|---|---|---|---|
| ARPC1B |
V32M |
EX3 | c.94G>A | p.Val32Met | missense_variant | Uncertain significance | HET |
Yes, part of genotype |
| ARPC1B |
K37N |
EX3 | c.111G>C | p.Lys37Asn | missense_variant | Likely Benign | HET |
Yes, part of genotype |
Clinical manifestations
| Age | Sign/Symptom | Present? | Severity | Presentation |
|---|---|---|---|---|
| Unk. | Decreased IgM levels |
No | ||
| Unk. | Reduced number of B cells |
Yes | ||
| Unk. | Eosinophilia |
Yes | recurrent | |
| Unk. | Thrombocytopenia |
Yes | recurrent | |
| Unk. | Antinuclear antibodies |
No | ||
| Unk. | Leukocytosis |
Yes | ||
| Unk. | Increased IgE levels |
Yes | ||
| 5.00 | Viral hepatitis |
Yes | chronic | |
| Unk. | Coombs Test Positive |
No | ||
| Unk. | Anemia |
Yes | ||
| Unk. | (unusual) Epstein-Barr virus infection |
Yes | ||
| Unk. | Hypercholesterolemia |
Yes | ||
| Unk. | Hyperferritinemia |
Yes | ||
| Unk. | Hepatic failure |
Yes | ||
| Unk. | Increased IgG level |
Yes | ||
| Unk. | Cervical lymphadenopathy |
Yes | ||
| Unk. | Thrombocytosis |
Yes | recurrent | |
| Unk. | Ascites |
Yes | ||
| Unk. | Increased IgA levels |
Yes | ||
| 5.00 | Abdominal pain |
Yes | ||
| 13.00 | Ecchymosis |
Yes | ||
| 13.00 | Gingival bleeding |
Yes | ||
| 13.00 | Epistaxis |
Yes | ||
| Unk. | Carious teeth |
Yes | ||
| 5.00 | Jaundice |
Yes | ||
| Unk. | Cholestasis |
Yes | ||
| Unk. | Hepatosplenomegaly |
Yes | ||
| Unk. | Hypertriglyceridemia |
Yes | ||
| Unk. | Decreased serum complement C3 |
No | ||
| Unk. | Bone marrow hypocellularity |
No | ||
| Unk. | Persistent EBV viremia |
Yes | severe | |
| Unk. | Elevated serum GGT levels |
Yes | ||
| 5.00 | Dark urine |
Yes | ||
| Unk. | Decreased serum complement C4 |
No |
Cell counts
| Age | Cell_type | Cells/ul | Ref.range | Relative(%) | Ref.range(%) | Result |
|---|---|---|---|---|---|---|
| B cells |
22 | 300 - 2000 | 1.00 | Low |
* Measured under treatment or HSCT.
Plasma proteins
| Age | Molecule[ℹ] | Value | Ref.range | Result |
|---|---|---|---|---|
| IgA |
340 | 13 - 104 mg/dL | High | |
| IgG |
2000 | 331 - 1164 mg/dL | High | |
| IgE |
233 | 1 - 100 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. |
|---|
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* Compared to WT controls
📊 shows raw values on hover