ReviewJournal of clinical immunology2014
Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.
Review in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled 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.
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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.American journal of clinical dermatology · 2024Pooled it
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- What can inherited immunodeficiencies reveal about pyoderma gangrenosum?Experimental dermatology · 2024Review
- A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.World journal of pediatrics : WJP · 2022Article
- A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult.Journal of clinical immunology · 2021Article
- Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.Journal of clinical immunology · 2021Article
- A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.Molecular genetics & genomic medicine · 2019Article
- Recent advances in understanding RAG deficiencies.F1000Research · 2019Review
- RAG Deficiency: Two Genes, Many Diseases.Journal of clinical immunology · 2018Review
- TJournal of clinical immunology · 2018Article
- Characterization of T and B cell repertoire diversity in patients with RAG deficiency.Science immunology · 2016Article
- Human RAG mutations: biochemistry and clinical implications.Nature reviews. Immunology · 2016Review
- Combined immunodeficiencies: twenty years experience from a single center in Turkey.Central-European journal of immunology · 2016Article
- Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.The Journal of clinical investigation · 2015Article
- History and current status of newborn screening for severe combined immunodeficiency.Seminars in perinatology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.
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.