ArticleOrphanet journal of rare diseases2016
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 28 citations in OpenAlex.
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.Frontiers in immunology · 2024Article
- A Tribute to Two Master Teachers of Immunology.Biomedicines · 2023Article
- Evaluation of immunological abnormalities in patients with rare syndromes.Central-European journal of immunology · 2022Article
- Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.Frontiers in immunology · 2022Article
- Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults.International journal of molecular sciences · 2020Review
- Clinical Outcomes and Risk Factors for In-Hospital Mortality in Neonates with Hypoplastic Left Heart Syndrome.Pediatric cardiology · 2020Article
- Do microdeletions lead to immune deficiency?Central-European journal of immunology · 2020Article
- Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disruptingBlood advances · 2019Article
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Authors and funding
20 authors at 20 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study.
methodsAll members of the European Society for Immunodeficiencies (ESID) were invited to participate by reporting their patients with chromosomal aberration (excluding Down and DiGeorge syndromes) in combination with one or more identified immunological abnormalities potentially relating to primary immunodeficiency. An online questionnaire was used to collect the patient data.
resultsForty-six patients were included from 16 centers (24 males, 22 females; median age 10.4 years [range 1.0-69.2 years]; 36 pediatric, 10 adult patients). A variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immune deficiency was reported. The most important clinical presentation prompting the immunological evaluation was 'recurrent ear-nose-throat (ENT) and airway infections'. Immunoglobulin isotype and/or IgG-subclass deficiencies were the most prevalent immunological abnormalities reported.
conclusionsOur survey yielded a wide variety of chromosomal aberrations associated with immunological abnormalities potentially relating to primary immunodeficiency. Although respiratory tract infections can often also be ascribed to other causes (e.g. aspiration or structural abnormalities), we show that a significant proportion of patients also have an antibody deficiency requiring specific treatment (e.g. immunoglobulin replacement, antibiotic prophylaxis). Therefore, it is important to perform immunological investigations in patients with chromosomal aberrations and recurrent ENT or airway infections, to identify potential immunodeficiency that can be specifically treated.
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