Information on TIACM
Basic details
Name: T-cell immunodeficiency, autoimmunity, and cardiac malformations | Acronym: TIACM
Alt. names: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
Gene: STK4 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2012
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals are susceptible to recurrent and severe viral, bacterial, and fungal infections (as well as sequelae such as EBV-related lymphoma), and and prophylaxis, as well as prompt and aggressive treatment of infections may be beneficial; Individuals may have cardiovascular anomalies, and surveillance (including with echocardiogram) may allow early detection and management; HSCT has been described. Refs. PMIDs: 22294732; 22174160
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.
1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
105409 |
M | 215759 | PMID:33382390 [Patient 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 | Lymphopenia |
11 (78.6%) | 0 (0.0%) | 3 (21.4%) |
| 2 | Childhood onset |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 3 | Neutropenia |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 4 | Bronchiectasis |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 5 | Mucocutaneous candidiasis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Immunodeficiency |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Patent foramen ovale |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Persistent EBV viremia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 9 | repeated bacterial infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 10 | Recurrent pneumonia |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 11 | Recurrent sinusitis |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 12 | Skin infections |
3 (42.9%) | 0 (0.0%) | 4 (57.1%) |
| 13 | Recurrent viral infections |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 14 | Warts |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 15 | Recurrent lower respiratory tract infections |
2 (28.6%) | 0 (0.0%) | 5 (71.4%) |
| 16 | Recurrent upper respiratory tract infection |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 17 | Secundum atrial septal defect |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 18 | Septicaemia |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 19 | Autoimmune hemolytic anemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Disseminated molluscum contagiosum |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Hodgkin lymphoma |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 22 | Infantile onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 23 | Juvenile onset |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
| 24 | Lymphoproliferative disorder |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 25 | Molluscum contagiosum |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 26 | Recurrent aphthous stomatitis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 27 | Recurrent fevers |
1 (33.3%) | 0 (0.0%) | 2 (66.7%) |
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.