ArticleJournal of clinical immunology2013
Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.Journal of clinical immunology · 2015Pooled it
- Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.Human genetics · 2026Article
- A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.Journal of clinical immunology · 2025Article
- Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.Journal of clinical immunology · 2025Article
- HemizygousThe application of clinical genetics · 2025Article
- Survival After Hematopoietic Stem Cell Transplantation in Severe Combined Immunodeficiency (SCID): A Worldwide Review of the Prognostic Variables.Clinical reviews in allergy & immunology · 2024Review
- X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review.Frontiers in immunology · 2024Review
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis.Frontiers in immunology · 2020Article
- A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.Frontiers in immunology · 2020Article
- Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.Frontiers in immunology · 2020Article
- The EuroFlow PID Orientation Tube for Flow Cytometric Diagnostic Screening of Primary Immunodeficiencies of the Lymphoid System.Frontiers in immunology · 2019Article
- Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.Frontiers in immunology · 2019Article
- TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry.Frontiers in physiology · 2018Article
- Combined immunodeficiencies: twenty years experience from a single center in Turkey.Central-European journal of immunology · 2016Article
- A conserved sugar bridge connected to the WSXWS motif has an important role for transport of IL-21R to the plasma membrane.Genes and immunity · 2015Article
- BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.The Journal of allergy and clinical immunology · 2014Article
- BCG vaccination in children with severe combined immunodeficiency in a tertiary center: evaluation of complications and risks.Jornal de pediatriaArticle
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe combined immunodeficiency (SCID), a rare type of genetic associated immune disorder, is poorly characterized in mainland China. We retrospectively reviewed 44 patients with SCID who received treatment from 2004 to 2011 in Shanghai, China, and herein summarize their clinical manifestations and immunological and preliminary genetic features. The male-to-female ratio was 10:1. Twenty five patients presented with X-SCID symptoms. Only one patient was diagnosed before the onset of symptoms due to positive family history. The mean time of delay in the diagnosis of X-SCID was 2.69 months (range, 0.5-8.67). Thirty-seven of the 44 patients died by the end of 2011 with the mean age of death being 7.87 months (range, 1.33-31). Six patients received hematopoietic stem cell transplantation (HSCT); only one of them survived, who was transplanted twice. The time between onset and death was shorter in the HSCT-treated group compared with the untreated group (2.87 ± 1.28 and 3.34 ± 0.59 months, respectively), probably due to active infections during transplantation. Bacillus Calmette-Guérin (BCG) complications occurred in 14 of the 34 patients who received BCG vaccination. Transfusion-induced graft-versus-host disease occurred in 5 patients. Total 20 mutations in interleukin-2 receptor subunit gamma (IL2RG) were identified in 22 patients, including 11 novel mutations. Most patients were misdiagnosed before referred to our SCID Center. Therefore, establishing more diagnostic centers dedicated to the care of PID and accessible by primary immunodeficiency patients will facilitate early, correct diagnosis and better care of SCID in China.
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