Information on IMD115
Name: Immunodeficiency 115 with autoinflammation | Acronym: IMD115
Alt. names: HOIP deficiency
Gene: RNF31 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2015
Last updated on: 2023-11-29 16:41:18 by Andrés Caballero-Oteyza
Description
It is characterized by immunodeficiency with recurrent bacterial, viral, and fungal infections, autoinflammation, arthriti, dermatitis, amylopectinosis, lymphangiectasia. Immunophenotyping shows hypogammaglobulinemia and normal numbers of T and B cells, but reduced memory B cells, and sometimes with defective antibody responses. Symptoms of immune dysregulation appear in early infancy.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased proportion of memory T cells |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Immunodeficiency |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Reduced ab-response to pneumococcal polysaccharide vaccine |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Recurrent fevers |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Reduced antigen-specific T cell proliferation |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Splenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Anemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Esophageal candidiasis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Clubbing |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Decreased IgG levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Eczema |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Elevated C-reactive protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | elevated ESR |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Elevated haptoglobin level |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Fatty replacement of skeletal muscle |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | Global developmental delay |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Hypoalbuminemia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Infantile onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Intermittent diarrhea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Intestinal lymphangiectasia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 21 | Lower limb muscle weakness |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 22 | Neonatal omphalitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 23 | Neonatal onset |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Postnatal growth retardation |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 26 | repeated bacterial infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 27 | Recurrent viral infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 28 | Skeletal muscle atrophy |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 29 | Superficial dermal perivascular inflammatory infiltrate |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 30 | Reduced T cell count |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 31 | Warts |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 32 | Abnormal circulating creatine kinase concentration |
0 (0.0%) | 0 (0.0%) | 2 (99.9%) |
Age of onset
distribution
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.
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).