Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.
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| Title: | Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis. |
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| Authors: | Chiang SCC; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: sam.chiang@cchmc.org., Yang L; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Owsley E; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Husami A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Akeno N; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Cobb C; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hartog NL; Allergy and Immunology, Corwell Health, Helen Devos Children's Hospital, College of Human Medicine, Michigan State University, Grand Rapids, Mich., Elizalde A; Allergy and Asthma, Texas Health, San Antonio, Tex., Seroogy CM; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis., Blanchard-Rohner G; Unit of Immunology, Vaccinology and Rheumatology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals and University of Geneva, Geneva, Switzerland., Peng XP; Division of Genetic Medicine, Department of Pediatrics, Montefiore Medical Center, Bronx, NY., Brager R; Division of Rheumatology, Immunology and Allergy, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Buchbinder D; Division of Hematology, Children's Hospital of Orange County, Orange, Calif., Cook E; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Phillips L; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada., Plecas Maricic S; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada., Kalashnikova T; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada., Dimitriades VR; Division of Pediatric Allergy, Immunology & Rheumatology, UC Davis Health, Sacramento, Calif., Murguía-Favela LE; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Gutierrez MJ; Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md., Shrikhande A; Department of Medicine and Pediatrics, Division of Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY., Steele M; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Wilson JL; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis., Wright NAM; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada., Marsh R; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Bleesing J; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Jordan MB; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio., Marwaha AK; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada. Electronic address: ashish.marwaha@ahs.ca. |
| Source: | The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2025 Aug; Vol. 156 (2), pp. 270-278. Date of Electronic Publication: 2025 Apr 10. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40220912 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chiang+SCC%22">Chiang SCC</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: sam.chiang@cchmc.org.<br /><searchLink fieldCode="AU" term="%22Yang+L%22">Yang L</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Owsley+E%22">Owsley E</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Husami+A%22">Husami A</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Akeno+N%22">Akeno N</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Cobb+C%22">Cobb C</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Hartog+NL%22">Hartog NL</searchLink>; Allergy and Immunology, Corwell Health, Helen Devos Children's Hospital, College of Human Medicine, Michigan State University, Grand Rapids, Mich.<br /><searchLink fieldCode="AU" term="%22Elizalde+A%22">Elizalde A</searchLink>; Allergy and Asthma, Texas Health, San Antonio, Tex.<br /><searchLink fieldCode="AU" term="%22Seroogy+CM%22">Seroogy CM</searchLink>; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis.<br /><searchLink fieldCode="AU" term="%22Blanchard-Rohner+G%22">Blanchard-Rohner G</searchLink>; Unit of Immunology, Vaccinology and Rheumatology, Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics, Geneva University Hospitals and University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Peng+XP%22">Peng XP</searchLink>; Division of Genetic Medicine, Department of Pediatrics, Montefiore Medical Center, Bronx, NY.<br /><searchLink fieldCode="AU" term="%22Brager+R%22">Brager R</searchLink>; Division of Rheumatology, Immunology and Allergy, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Buchbinder+D%22">Buchbinder D</searchLink>; Division of Hematology, Children's Hospital of Orange County, Orange, Calif.<br /><searchLink fieldCode="AU" term="%22Cook+E%22">Cook E</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Phillips+L%22">Phillips L</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Plecas+Maricic+S%22">Plecas Maricic S</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kalashnikova+T%22">Kalashnikova T</searchLink>; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Derfalvi+B%22">Derfalvi B</searchLink>; Division of Immunology, Department of Pediatrics, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada.<br /><searchLink fieldCode="AU" term="%22Dimitriades+VR%22">Dimitriades VR</searchLink>; Division of Pediatric Allergy, Immunology & Rheumatology, UC Davis Health, Sacramento, Calif.<br /><searchLink fieldCode="AU" term="%22Murguía-Favela+LE%22">Murguía-Favela LE</searchLink>; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Gutierrez+MJ%22">Gutierrez MJ</searchLink>; Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Md.<br /><searchLink fieldCode="AU" term="%22Shrikhande+A%22">Shrikhande A</searchLink>; Department of Medicine and Pediatrics, Division of Allergy, Immunology and Rheumatology, University of Rochester Medical Center, Rochester, NY.<br /><searchLink fieldCode="AU" term="%22Steele+M%22">Steele M</searchLink>; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Wilson+JL%22">Wilson JL</searchLink>; Division of Allergy, Immunology & Rheumatology, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis.<br /><searchLink fieldCode="AU" term="%22Wright+NAM%22">Wright NAM</searchLink>; Section of Hematology/Immunology, Alberta Children's Hospital, Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Marsh+R%22">Marsh R</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Bleesing+J%22">Bleesing J</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Jordan+MB%22">Jordan MB</searchLink>; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Marwaha+AK%22">Marwaha AK</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Ontario, Canada. Electronic address: ashish.marwaha@ahs.ca. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2025 Aug; Vol. 156 (2), pp. 270-278. <i>Date of Electronic Publication: </i>2025 Apr 10. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Mosby%22">Mosby </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>1275002 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1097-6825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200916749%22">00916749 </searchLink><i>NLM ISO Abbreviation: </i>J Allergy Clin Immunol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40220912 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.jaci.2025.04.003 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 270 Titles: – TitleFull: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chiang SCC – PersonEntity: Name: NameFull: Yang L – PersonEntity: Name: NameFull: Owsley E – PersonEntity: Name: NameFull: Husami A – PersonEntity: Name: NameFull: Akeno N – PersonEntity: Name: NameFull: Cobb C – PersonEntity: Name: NameFull: Hartog NL – PersonEntity: Name: NameFull: Elizalde A – PersonEntity: Name: NameFull: Seroogy CM – PersonEntity: Name: NameFull: Blanchard-Rohner G – PersonEntity: Name: NameFull: Peng XP – PersonEntity: Name: NameFull: Brager R – PersonEntity: Name: NameFull: Buchbinder D – PersonEntity: Name: NameFull: Cook E – PersonEntity: Name: NameFull: Phillips L – PersonEntity: Name: NameFull: Plecas Maricic S – PersonEntity: Name: NameFull: Kalashnikova T – PersonEntity: Name: NameFull: Derfalvi B – PersonEntity: Name: NameFull: Dimitriades VR – PersonEntity: Name: NameFull: Murguía-Favela LE – PersonEntity: Name: NameFull: Gutierrez MJ – PersonEntity: Name: NameFull: Shrikhande A – PersonEntity: Name: NameFull: Steele M – PersonEntity: Name: NameFull: Wilson JL – PersonEntity: Name: NameFull: Wright NAM – PersonEntity: Name: NameFull: Marsh R – PersonEntity: Name: NameFull: Bleesing J – PersonEntity: Name: NameFull: Jordan MB – PersonEntity: Name: NameFull: Marwaha AK IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2025 Aug Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1097-6825 Numbering: – Type: volume Value: 156 – Type: issue Value: 2 Titles: – TitleFull: The Journal of allergy and clinical immunology Type: main |
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