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   Articles with "lrba deficiency" as a keyword



The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity

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recommendations! Published in 2018 at "Journal of Cellular Physiology"

DOI: 10.1002/jcp.26772

Abstract: Patients with lipopolysaccharides responsive beige‐like anchor protein (LRBA) deficiency suffer from a variety of immunological abnormalities. In the current study, we investigated the role of T helper (Th) cell subsets and regulatory T (Treg) cells… read more here.

Keywords: patients lrba; th1 like; like th17; deficiency ... See more keywords
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Pulmonary manifestations of immune dysregulation in CTLA‐4 haploinsufficiency and LRBA deficiency

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recommendations! Published in 2021 at "Pediatric Pulmonology"

DOI: 10.1002/ppul.25373

Abstract: The primary immunodeficiency syndromes of cytotoxic T lymphocyte‐associated protein 4 (CTLA‐4) haploinsufficiency and lipopolysaccharide‐responsive and beige‐like anchor protein (LRBA) deficiency present with multisystem immune dysregulation. The aim of this study was to characterize and compare… read more here.

Keywords: ctla haploinsufficiency; pulmonary manifestations; immune dysregulation; lrba deficiency ... See more keywords
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Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients

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recommendations! Published in 2020 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-020-00799-2

Abstract: LPS-responsive beige-like anchor (LRBA) deficiency is an autosomal recessive primary immunodeficiency disorder, OMIM (#614700). LRBA deficiency patients suffer from variable manifestations including recurrent infections, immune dysregulation, autoimmunity, cytopenias, and enteropathy. This study describes different clinical… read more here.

Keywords: deficiency patients; phenotypes immunological; immunological characteristics; clinical phenotypes ... See more keywords

Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning

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recommendations! Published in 2024 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-024-01770-1

Abstract: LRBA deficiency is an inborn error of immunity defined by autoimmunity, lymphoproliferation, recurrent infections, cytopenia, and inflammatory bowel disease. Despite recent advances in managing this disease with targeted biologic therapy, haematopoietic stem cell transplant (HSCT)… read more here.

Keywords: fludarabine treosulfan; deficiency; treosulfan thiotepa; lrba deficiency ... See more keywords
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Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency

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recommendations! Published in 2020 at "Immunological Investigations"

DOI: 10.1080/08820139.2020.1770784

Abstract: ABSTRACT LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of… read more here.

Keywords: beige like; lps responsive; responsive beige; like anchor ... See more keywords

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency

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recommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-017-0682-5

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… read more here.

Keywords: cancer; multifocal gastric; deficiency; lrba deficiency ... See more keywords
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Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease

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recommendations! Published in 2020 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2020.580963

Abstract: Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological… read more here.

Keywords: beige like; responsive beige; lipopolysaccharide responsive; like anchor ... See more keywords