About: Multiple Presentations of LRBA Deficiency: a Single-Center Experience

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
title	Multiple Presentations of LRBA Deficiency: a Single-Center Experience
Creator	Aytekin, Caner Dalgic, Buket Dogu, Figen Ensari, Arzu Haskologlu, Sule Ikinciogullari, Aydan Islamoglu, Candan Kansu, Aydan Kendirli, Tanil Kostel Bal, Sevgi Kuloglu, Zarife Serwas, Nina Siklar, Zeynep Yavuz, Gulsan Kaan Boztug, &
source	Medline; PMC
abstract	INTRODUCTION: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations. METHOD: Seven affected individuals from five families were assessed retrospectively in this study. RESULTS: Of the seven patients with LRBA deficiency, four had homozygous, and two had compound heterozygous mutations. One patient remained disease free until the last follow-up (age 17 years). The most common clinical manifestations of the six symptomatic patients were organomegaly (6/6), autoimmunity (6/6), and chronic diarrhea (5/6). Recurrent infectious episodes were observed in three patients. None of the patients had hypogammaglobulinemia at presentation. B cell subpopulation analysis revealed low numbers of switched-memory B cell numbers in two of the four tested patients. During the disease course, three of the patients died, two of them underwent successful hematopoietic stem cell transplantation (HSCT) from matched sibling donors, and one is under abatacept therapy. CONCLUSION: LRBA defects should always be kept in mind as a differential diagnosis for patients with autoimmune disease affecting multiple organs, chronic diarrhea, and organomegalies. In our experience, early HSCT is a life-saving therapeutic strategy.
has issue date	2017-09-27(xsd:dateTime)
bibo:doi	10.1007/s10875-017-0446-y
bibo:pmid	28956255
has license	no-cc
sha1sum (hex)	b2074d90f00cb6ec86ff66ecfe5a5d94bc736e14
schema:url	https://doi.org/10.1007/s10875-017-0446-y
resource representing a document's title	Multiple Presentations of LRBA Deficiency: a Single-Center Experience
has PubMed Central identifier	PMC7086713
has PubMed identifier	28956255
schema:publication	J Clin Immunol
resource representing a document's body	covid:b2074d90f00cb6ec86ff66ecfe5a5d94bc736e14#body_text
is schema:about of	named entity 'SINGLE' named entity 'autoimmune disease' named entity 'manifestations' named entity 'age' named entity 'patients' named entity 'observed' named entity 'diarrhea' named entity 'lifesaving' named entity 'DEFICIENCY' named entity 'THERAPEUTIC' named entity 'DONORS' named entity 'SPECTRUM' named entity 'ASSOCIATED WITH' named entity 'LOW' named entity 'TESTED' named entity 'STUDY' named entity 'COMPOUND HETEROZYGOUS' named entity 'FOLLOW-UP' named entity 'CHRONIC DIARRHEA' named entity 'RESULTS' named entity 'MIND' named entity 'PRESENT' named entity 'SYMPTOMATIC' named entity 'EXTENDED' named entity 'PRESENTATION' named entity 'ASSESSED' named entity 'TURKISH' named entity 'FAMILIES' named entity 'HYPOGAMMAGLOBULINEMIA' named entity 'SIBLING' named entity 'DISEASE COURSE' named entity 'COHORT' named entity 'YEARS' named entity 'PATIENT' named entity 'DIFFERENTIAL DIAGNOSIS' named entity 'NUMBERS' named entity 'HEMATOPOIETIC STEM CELL TRANSPLANTATION' named entity 'EPISODES' named entity 'MANIFESTATIONS' named entity 'LIFESAVING' named entity 'CLINICAL MANIFESTATIONS' named entity 'DEFICIENCY' named entity 'CLINICAL' named entity 'HSCT' named entity 'IS A' named entity 'SWITCHED' named entity 'EXPERIENCE' named entity 'ABATACEPT THERAPY' named entity 'DIVERSITY' named entity 'MULTIPLE' named entity 'EXPERIENCE' named entity 'EARLY' covid:arg/b2074d90f00cb6ec86ff66ecfe5a5d94bc736e14 named entity 'MEMORY B CELL' named entity 'RECURRENT' named entity 'CENTER' named entity 'AUTOIMMUNE DISEASE' named entity 'CATEGORIZED' named entity 'OBSERVED' named entity 'CONCLUSION' named entity 'AFFECTING' named entity 'METHOD' named entity 'OUR' named entity 'AUTOIMMUNITY' named entity 'PRESENTATIONS' named entity 'SEVEN' named entity 'LRBA'

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