Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.2 deletion. We planned to study the prevale...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
|
| Series: | Annals of Pediatric Cardiology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/apc.apc_168_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841554772516143104 |
|---|---|
| author | Souvik Das Arun Kumar Baranwal Amit Rawat Ashwini Nair Sanjeev Hanumantacharya Naganur Anupriya Kaur Anand Kumar Mishra Ankur Jindal Anit Kaur |
| author_facet | Souvik Das Arun Kumar Baranwal Amit Rawat Ashwini Nair Sanjeev Hanumantacharya Naganur Anupriya Kaur Anand Kumar Mishra Ankur Jindal Anit Kaur |
| author_sort | Souvik Das |
| collection | DOAJ |
| description | Introduction:
22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.2 deletion. We planned to study the prevalence of immunological aberrations and 22q11.2 deletion among patients with conotruncal anomaly to understand the impact of their interplay.
Patients and Methods:
Preoperative children (age <12 years) with conotruncal anomalies were evaluated for clinical dysmorphism, lymphocyte subsets by flowcytometry, immunoglobulin levels by nephelometry, and 22q11.2 deletion by multiplex ligand-dependent probe amplification (January 2021–June 2022). Patients with asplenia and polysplenia were excluded from immunological studies.
Results:
Major cardiac defects ([n = 101], [median age, 32 days]) included dextro-transposition of great arteries (d-TGA) - 41.6%, tetralogy of Fallot - 37.6%, double outlet right ventricle (DORV) - 13.9%, and truncus arteriosus - 4.9%. Four patients had polysplenia with situs inversus, while 17 had clinical dysmorphism. Flow cytometry (n = 82) revealed low absolute counts of lymphocytes (33%), T-cells (51.2%), CD4+ cells (50%), and CD8+ cells (51.2%), while only 14.1% had low IgG levels. Eight patients (8/95, 8.4%) had 22q11.2 deletion, with universal deletion of TBX1-2 and TBX1-7 genes; the other 19 genes were deleted in various combinations. Two patients with 22q11.2 deletion had normal T-cell subsets, while none had a complete absence of T-cells.
Conclusion:
Immunological aberrations, especially T-cell abnormalities, were present in almost half of the patients, irrespective of 22q11.2 deletion. Only 8.4% of patients had 22q11.2 deletion. The high incidence of d-TGA among 22q11.2 deletion patients needs further exploration. |
| format | Article |
| id | doaj-art-4e45a3ecc1a54dc29b67ab56aabe0a63 |
| institution | Kabale University |
| issn | 0974-2069 0974-5149 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Pediatric Cardiology |
| spelling | doaj-art-4e45a3ecc1a54dc29b67ab56aabe0a632025-01-08T09:25:35ZengWolters Kluwer Medknow PublicationsAnnals of Pediatric Cardiology0974-20690974-51492024-12-0117533934610.4103/apc.apc_168_24Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional studySouvik DasArun Kumar BaranwalAmit RawatAshwini NairSanjeev Hanumantacharya NaganurAnupriya KaurAnand Kumar MishraAnkur JindalAnit KaurIntroduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.2 deletion. We planned to study the prevalence of immunological aberrations and 22q11.2 deletion among patients with conotruncal anomaly to understand the impact of their interplay. Patients and Methods: Preoperative children (age <12 years) with conotruncal anomalies were evaluated for clinical dysmorphism, lymphocyte subsets by flowcytometry, immunoglobulin levels by nephelometry, and 22q11.2 deletion by multiplex ligand-dependent probe amplification (January 2021–June 2022). Patients with asplenia and polysplenia were excluded from immunological studies. Results: Major cardiac defects ([n = 101], [median age, 32 days]) included dextro-transposition of great arteries (d-TGA) - 41.6%, tetralogy of Fallot - 37.6%, double outlet right ventricle (DORV) - 13.9%, and truncus arteriosus - 4.9%. Four patients had polysplenia with situs inversus, while 17 had clinical dysmorphism. Flow cytometry (n = 82) revealed low absolute counts of lymphocytes (33%), T-cells (51.2%), CD4+ cells (50%), and CD8+ cells (51.2%), while only 14.1% had low IgG levels. Eight patients (8/95, 8.4%) had 22q11.2 deletion, with universal deletion of TBX1-2 and TBX1-7 genes; the other 19 genes were deleted in various combinations. Two patients with 22q11.2 deletion had normal T-cell subsets, while none had a complete absence of T-cells. Conclusion: Immunological aberrations, especially T-cell abnormalities, were present in almost half of the patients, irrespective of 22q11.2 deletion. Only 8.4% of patients had 22q11.2 deletion. The high incidence of d-TGA among 22q11.2 deletion patients needs further exploration.https://journals.lww.com/10.4103/apc.apc_168_2422q11.2 deletionconotruncal anomaliesdi george syndromeimmunological aberrationslymphocyte counts |
| spellingShingle | Souvik Das Arun Kumar Baranwal Amit Rawat Ashwini Nair Sanjeev Hanumantacharya Naganur Anupriya Kaur Anand Kumar Mishra Ankur Jindal Anit Kaur Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study Annals of Pediatric Cardiology 22q11.2 deletion conotruncal anomalies di george syndrome immunological aberrations lymphocyte counts |
| title | Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study |
| title_full | Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study |
| title_fullStr | Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study |
| title_full_unstemmed | Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study |
| title_short | Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study |
| title_sort | prevalence of immunological aberrations and 22q11 2 deletion in children with conotruncal anomalies a cross sectional study |
| topic | 22q11.2 deletion conotruncal anomalies di george syndrome immunological aberrations lymphocyte counts |
| url | https://journals.lww.com/10.4103/apc.apc_168_24 |
| work_keys_str_mv | AT souvikdas prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT arunkumarbaranwal prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT amitrawat prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT ashwininair prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT sanjeevhanumantacharyanaganur prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT anupriyakaur prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT anandkumarmishra prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT ankurjindal prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy AT anitkaur prevalenceofimmunologicalaberrationsand22q112deletioninchildrenwithconotruncalanomaliesacrosssectionalstudy |