ReviewClinical reviews in allergy & immunology2001
The DiGeorge anomaly.
Review in Clinical reviews in allergy & immunology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis 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
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Thymus transplantation for DiGeorge Syndrome: a systematic review.Pediatric surgery international · 2025Pooled it
- Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2022Review
- Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.Journal of clinical immunology · 2021Review
- Thymus involution and regeneration: two sides of the same coin?Nature reviews. Immunology · 2013Review
- Thymus transplantation.Clinical immunology (Orlando, Fla.) · 2010Review
- Thymus transplantation in complete DiGeorge anomaly.Immunologic research · 2009Article
- Factors affecting success of thymus transplantation for complete DiGeorge anomaly.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The DiGeorge anomaly, originally considered a clinical paradigm for isolated thymus deficiency, has now been redefined as a member of a group of disorders that share in common a chromosome deletion resulting in monosomy 22q11 (CATCH-22 or DGA/VCFS). In addition to the thymus defect, conotruncal heart anomalies, dysmorphism, hypoparathyroidism, and cleft palate are prominent features. Despite the emphasis on thymus involvement in DGA, a clinically significant thymus defect is found only in a small percentage of these patients probably occurring in less than 5% of the cases. Maldescent of the thymus, however, is extremely common, leading to an absence of mediastinal thymic tissue in nearly all cases. The basic embryological fault in these disorders is an inadequate development of the facial neural-crest tissues, resulting in defective organogenesis of pharyngeal pouch derivatives that receive cephalic neural-crest contribution to the mesenchmyme. The causes for this maldevelopment are both genetic and extragenetic in origin and the genetic lesions act in concert with random environmental events to produce the ultimate clinical picture. The modern research approaches now available have cleared away most of the confusion clouding the clinical and theoretical aspects of DGA and related disorders, providing the clinician with useful landmarks to assess and treat these intriguing clinical challenges.
Indexed as
Identifiers
11269228What 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.