The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity
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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
Pulmonary manifestations of immune dysregulation in CTLA‐4 haploinsufficiency and LRBA deficiency
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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
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients
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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
Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency
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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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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
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
Sign Up to like & getrecommendations! 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