ArticleJournal of clinical immunology2022
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.
Article in Journal of clinical immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome.Expert reviews in molecular medicine · 2026Pooled it
- Allogeneic Hematopoietic Cell Transplantation for Congenital Athymia: A Nationwide Retrospective Study in Japan.Journal of clinical immunology · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.Brain and behavior · 2026Article
- B cells, autoimmunity, and innate immunity in 22q11.2 deletion syndrome: a two-center study and review of the literature.Central-European journal of immunology · 2026Article
- DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis.Clinical case reports · 2026Article
- Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report.Frontiers in pediatrics · 2026Article
- Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.BMC pregnancy and childbirth · 2025Article
- Diagnosing failure to thrive: 22q11.2 deletion syndrome in identical twins.BMJ case reports · 2025Article
- Vaccine immunity in patients with 22q11.2 microdeletion syndrome.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Observational
- Failure to thrive in pediatric patients with congenital heart disease: a cross-sectional study of 13,256 patients.The Lancet regional health. Western Pacific · 2024Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Complications of Mandibular Distraction Osteogenesis in Infants with Isolated Robin Sequence.Children (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosome 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans and can present with highly variable clinical manifestations. Immune deficiencies occur because of thymic hypoplasia or aplasia.
methodsThis retrospective study included patients diagnosed with 22q11.2DS at a medical center between 2000 and 2021. We analyzed the association between clinical phenotypes, immunological abnormalities, age, and outcomes.
resultsEighty-seven patients with 22q11.2DS had a median diagnostic age of 1.78 months. Patients presented with congenital heart disease (CHD; 86.2%), major infections (75.9%), and failure to thrive (FTT; 58.6%). Autoimmunity, neuropsychiatric disorders, and hypoparathyroidism were significantly associated. Neonatal seizures were associated with early diagnosis before 2 months (OR 8.56, 95% CI 1.21-60.58, P = 0.032). Immunological abnormalities included lymphopenia (93.1%), T lymphopenia (71.9%), CD4
conclusionsCHD, major infection, and FTT were common manifestations and poor prognostic factors. Autoimmunity, neuropsychiatric disorders, and hypoparathyroidism were significantly associated. Although T lymphopenia may improve with age, patients with 22q11.2DS require lifelong monitoring for immune dysregulation.
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