ReviewJournal of clinical immunology2023
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Review in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 35 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Pooled it
- Vaccination practice and safety in children with special health care needs: A retrospective study of 1278 children.Human vaccines & immunotherapeutics · 2026Article
- Article
- Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome.Journal of human immunity · 2026Article
- How I Treat: Immune dysregulation in Down syndrome.Journal of human immunity · 2026Review
- Epstein-Barr virus (EBV) -related Hodgkin lymphoma in a 1-year-old child with DiGeorge syndrome.BMC pediatrics · 2026Article
- Allogeneic Hematopoietic Cell Transplantation for Congenital Athymia: A Nationwide Retrospective Study in Japan.Journal of clinical immunology · 2026Article
- Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.Journal of clinical immunology · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.Frontiers in immunology · 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
- Juvenile idiopathic arthritis in DiGeorge syndrome: a case report and literature review.Frontiers in immunology · 2026Review
- Infantile 22q11.2 deletion syndrome with secondary monogenic variants following inconclusive whole exome sequencing: a case report.Frontiers in pediatrics · 2026Article
- Cross-Expression of Thymic and Parathyroid Hormone Receptors Supports the Hypothesis of a Parathyroid-Thymus Port System.International journal of molecular sciences · 2025Article
- Informed clinical decisions by outfoxing human FOXN1 variants.The Journal of allergy and clinical immunology · 2025Review
- Expanding the Spectrum of Selective IgM Deficiency: From Infections to Immune Dysregulation.International journal of molecular sciences · 2025Article
- Progress in Diagnosis and Treatment of Primary Immunodeficiencies.Journal of clinical medicine · 2025Article
- Immune Reconstitution and Need for Booster Vaccinations Among Non-Transplant Childhood Cancer Survivors: A Single-Center Experience.Cancer reports (Hoboken, N.J.) · 2025Article
- Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.Journal of clinical immunology · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors.
Funding
Abstract
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune compromise. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.