Evidence map›Paper›PMID 37480474›Full record

ArticleJournal of clinical immunology2023

Inborn Errors of Immunity-the Sri Lankan Experience 2010-2022.

Dhanushka Dasanayake, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Chandima Karunatilleke, James Thambyrajah, Anne Puel, Koon Wing Chan, Rainer Doffinger, Yu-Lung Lau, Jean-Laurent Casanova and 2 more

Open access · greenAbstract read
In one paragraph

Article in Journal of clinical immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 31% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 6 institutions in 5 countries.

Dhanushka DasanayakeDepartment of Immunology, Medical Research Institute, Colombo, Sri Lanka.
Jacinta BustamanteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Stéphanie Boisson-DupuisSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Chandima KarunatillekeDepartment of Immunology, Medical Research Institute, Colombo, Sri Lanka.
James ThambyrajahInstitute of Biochemistry, Molecular Biology & Biotechnology, University of Colombo, Colombo, Sri Lanka.
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Koon Wing ChanDepartment of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Rainer DoffingerDept of Clinical Biochemistry and Immunology, Cambridge University Hospitals, Cambridge, UK.
Yu-Lung LauDepartment of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Dinakantha KumararatneDept of Clinical Biochemistry and Immunology, Cambridge University Hospitals, Cambridge, UK.
Rajiva de SilvaDepartment of Immunology, Medical Research Institute, Colombo, Sri Lanka. nilhandesilva@gmail.com.ORCID http://orcid.org/0000-0002-3232-2130
Inserm · FRMedical Research Institute · LKCambridge University Hospitals NHS Foundation Trust · GBChinese University of Hong Kong · HKHoward Hughes Medical Institute · USUniversity of Colombo · LK

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5M
NCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI095983
6 · The paper itself

Abstract

purposeInborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka.

methodsData of patients diagnosed with IEI from 2010 to 2022 at the Department of Immunology, Medical Research Institute, Colombo, Sri Lanka, were retrospectively analyzed.

resultsTwo hundred and six patients were diagnosed with IEI, with a prevalence of 0.94 per 100,000. The onset of disease was below 12 years in 84.9%, whereas in 10.9%, it was after 18 years. The male: female ratio was 1.78:1. Consanguinity was identified in 26.6%. IEI were found in all but one (bone marrow failure) of the 10 IUIS categories. Predominantly antibody deficiencies were the most common category among the nine identified (30.1%), followed by combined immune deficiencies with syndromic features (21.3%), immunodeficiencies affecting cellular and humoral immunity (19.9%), congenital defects of phagocyte number or function (13.1%), and defects in intrinsic and innate immunity (8.2%). Severe combined immune deficiency (SCID) was the commonest disease (14.6%), followed by chronic granulomatous disease (CGD) (10.6%) and X linked agammaglobulinemia (8.7%). Of the patients with a known outcome (n = 184), 51 died (27.7%). Mortality rates were high in SCID (83.3%), Omenn syndrome (OS) (100%), and CGD (31.8%) patients.

conclusionIEI in Sri Lanka are diagnosed mainly in childhood. The low diagnosis rates suggest a need for educating clinicians regarding IEI in adulthood. The high mortality rates associated with some IEI indicate the need of transplant services in the country.

Indexed as

AgammaglobulinemiaGranulomatous Disease, ChronicSevere Combined ImmunodeficiencyAsian PeopleFemaleHumansMaleRetrospective StudiesSri LankaChronic granulomatous diseaseIEI in Sri LankaInborn errors of immunityNext generation sequencingSevere combined immune deficiency

Identifiers

PMID37480474
PMCPMC11014423
OpenAlexW4385146722

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.