Information on IMD92

Basic details

Name: Immunodeficiency 92 | Acronym: IMD92
Alt. names: Rel deficiency

Gene: REL | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2019

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 619652

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021).[OMIM]

Management

Hematopoietic stem cell transplantation may be curative.

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).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Childhood onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
2 Abnormal B cell proliferationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Reduced number of B cellsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 BCGosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Cholangitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Chronic diarrheaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Decreased IgA levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Decreased IgG levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Decreased proportion of switched memory B cellsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Esophagitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Hepatomegalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Leukocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Lymphocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Osteomyelitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Reduced ab-response to tetanus vaccinearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Persistent CMV viremiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
18 Recurrent feversarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Herpes labialis, recurrentarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Primary sclerosing cholangitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Thrombocytosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

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.