Information on IMD49

Basic details

Name: Immunodeficiency 49 | Acronym: IMD49
Alt. names:

Gene: BCL11B | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

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

OMIM: 617237

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Among other features, individuals have been described as susceptible to severe or frequent infections, and awareness may allow preventative measures and early and aggressive treatment of infections; In Immunodeficiency 49, HSCT has been described. Refs. PMIDs: 27959755; 29985992

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.

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 Abnormally low T cell receptor excision circle levelarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
2 Agenesis of corpus callosumarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
3 Congenital onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
4 Reduced proportion of naive CD4 T cellsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
5 Muscular hypotoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
6 Impaired lymphocyte transformation with phytohemagglutininarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
7 Intellectual disabilityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
8 Natal tootharrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
9 Psoriasiform dermatitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
10 Pulmonary artery stenosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
11 Reduced cerebral white matter volumearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
12 Seizuresarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Severe combined immunodeficiencyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
14 Spastic tetraplegiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Reduced T cell countarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Umbilical herniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

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.