ReviewItalian journal of pediatrics2010
Genetics of SCID.
Review in Italian journal of pediatrics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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.
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.
Who cites it
42 citing papers in PubMed, 86 citations in OpenAlex.
- Gastroenterological disorders in inborn errors of immunity. Part 2 A. Overview of selected diseases.Przeglad gastroenterologiczny · 2026Review
- First case of primary CNS lymphoma in a patient with severe combined immunodeficiency carrying a novel ZAP70 mutation: a case report.Annals of medicine and surgery (2012) · 2025Article
- Viral-based gene therapy clinical trials for immune deficiencies and blood disorders from 2013 until 2023 - an overview.Regenerative therapy · 2025Review
- Article
- EFFECT OF GENOTYPE AND AGE ON A DEFINED MICROBIOTA IN GNOTOBIOTIC SCID PIGLETS.bioRxiv : the preprint server for biology · 2024Article
- Generation of RAG2 Knockout Immune-Deficient Miniature Pigs.Animals : an open access journal from MDPI · 2024Article
- Article
- CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications.Nature communications · 2023Article
- JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.Journal of clinical immunology · 2023Review
- Severe Combined Immunodeficiency-Classification, Microbiology Association and Treatment.Microorganisms · 2023Review
- Talaromyces marneffei infection and complicate manifestation of respiratory system in HIV-negative children.BMC pulmonary medicine · 2023Article
- Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.Molecular therapy. Nucleic acids · 2023Article
- In utero transplantation of myoblasts and adipose-derived mesenchymal stem cells to murine models of Duchenne muscular dystrophy does not lead to engraftment and frequently results in fetal death.Regenerative therapy · 2022Article
- Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused byFrontiers in genetics · 2022Article
- Comparison of Genetically Engineered Immunodeficient Animal Models for Nonclinical Testing of Stem Cell Therapies.Pharmaceutics · 2021Review
- Induced Pluripotent Stem Cell Meets Severe Combined Immunodeficiency.Cell journal · 2020Review
- What Will B Will B: Identifying Molecular Determinants of Diverse B-Cell Fate Decisions Through Systems Biology.Frontiers in cell and developmental biology · 2020Review
- Severe combined immunodeficiency pig as an emerging animal model for human diseases and regenerative medicines.BMB reports · 2019Review
- Survival of human cadaver skin on severe combined immune deficiency pigs: Proof of concept.Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society · 2019Article
- The effect of delayed and early diagnosis in siblings, and importance of newborn screening for SCID.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human SCID (Severe Combined Immunodeficiency) is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile) and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning).Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features) aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms.This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.