ArticleJournal of clinical immunology2017
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Article in Journal of clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- The Immune System and the Plural Autisms: A Narrative Review.Journal of personalized medicine · 2026Review
- Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections.Journal of clinical immunology · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- First pilot study for newborn screening of severe T and B lymphopenias in ColombiaBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Utilization of next-generation sequencing to define the role of heterozygousThe journal of allergy and clinical immunology. Global · 2024Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.Genes · 2022Article
- Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.Journal of clinical immunology · 2022Article
- Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study.Central-European journal of immunology · 2022Article
- Reasons of the delayed vaccination, recommendations and safety of vaccination in children with congenital heart disease in Zhejiang, China.Human vaccines & immunotherapeutics · 2021Article
- TREC Screening for WHIM Syndrome.Journal of clinical immunology · 2021Article
- SCID newborn screening: What we've learned.The Journal of allergy and clinical immunology · 2021Review
- Article
- Candidate modifier genes for immune function in 22q11.2 deletion syndrome.Molecular genetics & genomic medicine · 2020Article
- Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).Molecular genetics & genomic medicine · 2019Article
- A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK.International journal of neonatal screening · 2019Article
- Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).Current allergy and asthma reports · 2018Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
purposeChromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions. Newborn screening (NBS) for severe combined immunodeficiency (SCID) is now identifying infants with 22q11.2DS due to T cell lymphopenia. Here, we report findings in such neonates, underscoring the efficacy of early diagnosis.
methodsA retrospective chart review of 1350 patients with 22q11.2DS evaluated at the Children's Hospital of Philadelphia identified 11 newborns with a positive NBS for SCID.
resultsFive out of 11 would have been diagnosed with 22q11.2DS without NBS, whereas early identification of 22q11.2DS in 6/11 led to the diagnosis of significant associated features including hypocalcemia, congenital heart disease (CHD), and gastroesophageal reflux disease that may have gone unrecognized and therefore untreated.
conclusionsOur findings support rapidly screening infants with a positive NBS for SCID, but without SCID, for 22q11.2DS even when typically associated features such as CHD are absent, particularly when B cells and NK cells are normal. Moreover, direct NBS for 22q11.2DS using multiplex qPCR would be equally, if not more, beneficial, as early identification of 22q11.2DS will obviate a protracted diagnostic odyssey while providing an opportunity for timely assessment and interventions as needed, even in the absence of T cell lymphopenia.
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