ArticleOrphanet journal of rare diseases2017
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.
Article in Orphanet journal of rare diseases, 2017. 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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Immunogenetics of gastrointestinal cancers: A systematic review and retrospective survey of inborn errors of immunity in humans.Journal of gastroenterology and hepatology · 2022Pooled it
- Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.The journal of allergy and clinical immunology. In practice · 2026Review
- Genetics of Immune Dysregulation and Cancer Predisposition: Two Sides of the Same Coin.Clinical and experimental immunology · 2022Review
- Tailored therapies for primary immunodeficiencies.Acta bio-medica : Atenei Parmensis · 2021Article
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- Collagenous Gastritis in Primary Selective IgM Deficiency: Transition to EBV+ Gastric Adenocarcinoma.Case reports in immunology · 2021Article
- Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.Frontiers in immunology · 2021Article
- Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis.Frontiers in immunology · 2020Article
- Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2020Review
- Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside.Frontiers in pediatrics · 2019Review
- Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.Journal of clinical immunology · 2018Article
- Initiation of inflammatory tumorigenesis by CTLA4 insufficiency due to type 2 cytokines.The Journal of experimental medicine · 2018Article
- LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.Frontiers in immunology · 2018Article
- Increased Risk for Malignancies in 131 AffectedFrontiers in immunology · 2018Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLipopolysaccharide-responsive, beige-like anchor protein (LRBA) deficiency is characterized by primary immunodeficiency and autoimmunity. Cancer may present another feature of LRBA deficiency. We describe a case history of a young adult with LRBA deficiency and two independent malignancies.
methodsFamily-trio whole exome sequencing with unbiased phenotype ontology approach was used for identification of causative mutations of a primary immune deficiency disorder. Additionally, we sought to identify germline mutations in genes known to be associated with two independent malignancies using a targeted approach. A cytotoxic T-lymphocyte associated protein 4 (CTLA4) expression in T lymphocytes was determined by flow cytometry.
resultsIn the patient with clinical signs of LRBA deficiency multifocal gastric carcinoma and malignant melanoma were diagnosed and surgically treated at 19 and 27 years of age, respectively. Despite refusal of any adjuvant chemotherapy or radiotherapy, the patient demonstrated disease free survival for at least 13 years after the first cancer diagnosis. A homozygous frameshift deletion in LRBA gene (p.Glu946Ter) and two common variants in TYR gene were identified. Reduced CTLA4 expression in a subset of regulatory T lymphocytes was identified in the patient and his unaffected mother carrying a heterozygous LRBA mutation as compared to control in a dose-dependent manner.
conclusionThis is the first description of gastric cancer and malignant melanoma in a young adult with LRBA deficiency. The role of LRBA gene knockout in cancer development and its prognosis remains to be elucidated.
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