Information on IMD109
Name: Immunodeficiency 109 with lymphoproliferation | Acronym: IMD109
Alt. names: CD137 deficiency | 41BB
Gene: TNFRSF9 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2019
Last updated on: 2023-06-19 by Andrés Caballero-Oteyza
Description
It is characterized by onset of recurrent sinopulmonary infections in childhood. Patients are susceptible to infection with EBV and develop EBV lymphoproliferation, chronic active EBV infection or B-cell lymphoma. Immunophenotyping shows low IgG and IgA, poor responses to T cell-dependent and T-cell independent antigens, decreased T cell proliferation, IFNg secretion and cytotoxicity, with normal numbers of circulating B, NK and T cells.
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Generalized lymphadenopathy |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Persistent EBV viremia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Splenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Absence of mature B cells |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 6 | Bronchiectasis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | Childhood onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Absent specific antibody response to tetanus vaccine |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 9 | Decreased IgG levels |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 10 | Decreased specific pneumococcal antibody level |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 11 | Hodgkin lymphoma |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 12 | Hypertriglyceridemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 13 | Hypofibrinogenemia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 14 | Juvenile onset |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 15 | Pancytopenia |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 16 | Recurrent lower respiratory tract infections |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 17 | Recurrent sinusitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
Age of onset
distribution
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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).