ArticleProceedings of the National Academy of Sciences of the United States of America2012
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 82 citations in OpenAlex.
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- γδ T Cells and Inborn Errors of Immunity.European journal of immunology · 2025Review
- Inhibition of B cell receptor signaling induced by the human adenovirus species D E3/49K protein.Frontiers in immunology · 2024Article
- Friend or foe? Unraveling the complex roles of protein tyrosine phosphatases in cardiac disease and development.Cellular signalling · 2022Review
- Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.Biomedical journal · 2022Review
- Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in theFrontiers in immunology · 2021Article
- Case Report: A Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- Article
- Molecular Classification of Primary Immunodeficiencies of T Lymphocytes.Advances in immunology · 2018Review
- LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.Frontiers in immunology · 2018Article
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- Article
- Genomic Copy Number Alterations in Renal Cell Carcinoma with Sarcomatoid Features.The Journal of urology · 2016Article
- Genomic imbalances in peripheral blood confirm the diagnosis of myelodysplastic syndrome in a patient presenting with non-immune hemolytic anemia.Leukemia research reports · 2016Article
- Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.International journal of molecular medicine · 2015Article
- Article
- Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Journal of genetic counseling · 2014Review
- New genetic discoveries and primary immune deficiencies.Clinical reviews in allergy & immunology · 2014Review
- BioAssemblyModeler (BAM): user-friendly homology modeling of protein homo- and heterooligomers.PloS one · 2014Article
- Post-transplantation B cell function in different molecular types of SCID.Journal of clinical immunology · 2013Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either X-linked or autosomal recessive inheritance of mutations in a known causative gene. However, in some cases, the molecular etiology remains unclear. To identify the cause of SCID in a patient known to lack the protein-tyrosine phosphatase CD45, we used SNP arrays and whole-exome sequencing. The patient's mother was heterozygous for an inactivating mutation in CD45 but the paternal alleles exhibited no detectable mutations. The patient exhibited a single CD45 mutation identical to the maternal allele. Patient SNP array analysis revealed no change in copy number but loss of heterozygosity for the entire length of chromosome 1 (Chr1), indicating that disease was caused by uniparental disomy (UPD) with isodisomy of the entire maternal Chr1 bearing the mutant CD45 allele. Nonlymphoid blood cells and other mesoderm- and ectoderm-derived tissues retained UPD of the entire maternal Chr1 in this patient, who had undergone successful bone marrow transplantation. Exome sequencing revealed mutations in seven additional genes bearing nonsynonymous SNPs predicted to have deleterious effects. These findings are unique in representing a reported case of SCID caused by UPD and suggest UPD should be considered in SCID and other recessive disorders, especially when the patient appears homozygous for an abnormal gene found in only one parent. Evaluation for alterations in other genes affected by UPD should also be considered in such cases.
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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.