Information on IMD91
Basic details
Name: Immunodeficiency 91 and hyperinflammation | Acronym: IMD91
Alt. names: ZNFX1 deficiency
Gene: ZNFX1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 4 | First reported in: 2021
Last updated on: 2023-04-28 07:59:57 by Andrés Caballero-Oteyza
Description
It is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. Most patients eventually develop hepatic or renal failure, compromised neurologic function, lymphadenopathy or hepatosplenomegaly, and multiorgan failure resulting in death. More variable features may include intermittent monocytosis, features of hemophagocytic lymphohistiocytosis (HLH), and serologic evidence of hyperinflammation (PMID: 33876776, 33872655).
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
4 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
104523 |
F | 215540 | 2 | 0 | Turkey | Turkish | PMID:34708404 [Fam.1:II.1(P1)] | |
| 104528 |
M | 215543 | 13 | 0 | Iran | Iranian | PMID:33876776 [Fam.A:II.2(P1)] | |
| 104639 |
F | 215562 | 15 | 1 | Germany | Iraqi | PMID:33872655 [Fam.A:II.2(P1.2)] | |
| 104642 |
F | 215562 | 3 | 0 | Germany | Iraqi | PMID:33872655 [Fam.A:II.1(P1.1)] |
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 | Lymphadenopathy |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 2 | (unusual) Respiratory tract infection |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 3 | Hepatopathy |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 4 | Abnormal lymphoproliferation |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Lung disease |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 6 | Pneumonia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 7 | Hepatosplenomegaly |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 8 | (Unusual) bacterial infection |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 9 | Hepatitis |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Failure to thrive |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 11 | Decreased small intestinal mucosa lactase level |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 12 | Palmoplantar erythema |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 13 | Seizures |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 14 | Hypothyroidism |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 15 | Renal interstitial fibrosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 16 | Thrombocytopenia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 17 | Acute hepatitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 18 | Clubbing |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 19 | Fever |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Pleural effusion |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Abnormal cerebral white matter morphology |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 22 | Cerebral calcification |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 23 | short stature |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 24 | Endocrine system abnormality |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 25 | Generalized muscle weakness |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 26 | Anemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 27 | Mediastinal lymphadenopathy |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 28 | Hepatomegaly |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 29 | Right ventricular dilatation |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 30 | Lymphoproliferative disorder |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 31 | Decreased pulmonary function |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 32 | Interstitial pneumonitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 33 | Pulmonary Hypertension |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 34 | Respiratory failure |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 35 | Arthritis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 36 | Disseminated nontuberculous mycobacterial infection |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 37 | Cough |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 38 | Abdominal pain |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 39 | Bronchiolitis Obliterans |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 40 | BCGosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 41 | Severe Adenovirus infection |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 42 | Polyarthritis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 43 | Renal tubular atrophy |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 44 | Glomerular sclerosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 45 | proteinuria |
0 (0.0%) | 1 (25.0%) | 3 (75.0%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.