ArticleFrontiers in immunology2019
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China.Human genetics · 2026Article
- JAK3-deficient mini-pigs exhibit impaired lymphoid organogenesis, intestinal structure, and leukocyte/cytokine production.Journal of advanced research · 2026Article
- Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.Frontiers in immunology · 2026Article
- IL2RG-related immunodeficiencies: from SCID to atypical presentations.Frontiers in immunology · 2026Review
- The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.Frontiers in immunology · 2025Review
- Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.Cell reports · 2024Article
- The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.Journal of clinical immunology · 2024Article
- Case report: Identification of a Chinese patient withFrontiers in immunology · 2024Article
- Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.Genes and immunity · 2023Article
- Severe Combined Immunodeficiency-Classification, Microbiology Association and Treatment.Microorganisms · 2023Review
- SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.Journal of clinical immunology · 2022Article
- Host Defenses to Viruses: Lessons from Inborn Errors of Immunity.Medicina (Kaunas, Lithuania) · 2022Review
- Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature.Journal of clinical immunology · 2022Review
- Gene Edited T Cell Therapies for Inborn Errors of Immunity.Frontiers in genome editing · 2022Review
- Clinical and Immunological Features of 96 Moroccan Children with SCID Phenotype: Two Decades' Experience.Journal of clinical immunology · 2021Article
- Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.Diagnostics (Basel, Switzerland) · 2021Article
- A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia.Immunologic research · 2021Article
- Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects.Frontiers in immunology · 2021Review
- Impact of maternal engrafted cytomegalovirus-specific CD8Clinical & translational immunology · 2021Article
- Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
35 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. A positive relationship between the age at onset and the DD was found. SCID patients with later onset were identified only in the last decade of observation. Syndromic SCIDs represented 28% of the cohort. Eight percent of the subjects were diagnosed in Intensive Care Units. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. Pre-treatment mortality was higher in atypical and syndromic patients. Our study broadens the knowledge of clinical and laboratory manifestations and genotype/phenotype correlation in patients with SCID and may facilitate the diagnosis of both typical and atypical forms of the disease in countries where newborn screening programs have not yet been implemented.
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