Information on AIPCS
Basic details
Name: Autoinflammatory-pancytopenia syndrome | Acronym: AIPCS
Alt. names: DNAse II deficiency
Gene: DNASE2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by severe anemia and thrombocytopenia beginning in early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy (Rodero et al., 2017).[OMIM]
Management
Treatment with a JAK inhibitor (baricitinib) may be effective
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Cholestatic liver disease |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Congenital onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Neonatal onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | proteinuria |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Recurrent fevers |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Failure to thrive |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 7 | Hepatic fibrosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Membranoproliferative glomerulonephritis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Arthropathy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 10 | Chilblains |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 11 | Chronic diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Delayed gross motor development |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Fever |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Granuloma |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Growth delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Hemophagocytosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 17 | Hepatosplenomegaly |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Intestinal inflammation |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Lipodystrophy |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 20 | Motor delay |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Pancytopenia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | (unusual) Epstein-Barr virus infection |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Type I diabetes mellitus |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.