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Published in 2022 at "Ocular immunology and inflammation"
DOI: 10.1080/09273948.2022.2042824
Abstract: PURPOSE To report a case of a male patient with a severe corneal and conjunctival immunopathy likely caused by an X-linked agammaglobulinemia. METHODS A clinical case report with observation results from 2001-2021. RESULTS A severe…
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Keywords:
eye drops;
entity linked;
keratoconjunctivitis single;
linked agammaglobulinemia ... See more keywords
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Published in 2022 at "Platelets"
DOI: 10.1080/09537104.2022.2053090
Abstract: Abstract Autoimmune disorders are common in patients with primary immunodeficiency diseases (PIDs). However, the prevalence of autoimmunity is low in patients with X-linked agammaglobulinemia (XLA), mostly due to the absence of antibodies. Chronic or persistent…
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Keywords:
immune thrombocytopenia;
phenotype;
chronic immune;
thrombocytopenia child ... See more keywords
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Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0139
Abstract: Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI)…
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Keywords:
improved humara;
humara detection;
xci;
carrier ... See more keywords
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Published in 2021 at "Current opinion in allergy and clinical immunology"
DOI: 10.1097/aci.0000000000000792
Abstract: PURPOSE OF REVIEW The clinical outcomes from COVID-19 in monogenic causes of predominant antibody deficiency have pivotal implications for our understanding of the antiviral contribution of humoral immunity. This review summarizes the lessons learned from…
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Keywords:
agammaglobulinemia xla;
covid;
antibody deficiency;
linked agammaglobulinemia ... See more keywords
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Published in 2020 at "Journal of Cutaneous Pathology"
DOI: 10.1111/cup.13860
Abstract: Patients with primary immunodeficiency are at increased risk for malignancy, especially hematologic neoplasms. This paper reports a unique case of a 47‐year‐old man with X‐linked agammaglobulinemia who presented with progressive asymptomatic violaceous papules and plaques…
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Keywords:
linked agammaglobulinemia;
granular lymphocyte;
large granular;
cd8 positive ... See more keywords
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Published in 2018 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.12893
Abstract: KREC (kappa-deleting recombining excision circles) quantification has been used in newborn screening programs to identify infants with X-linked agammaglobulinemia (XLA) and other B cell associated forms of primary immunodeficiency disease (PID). We evaluated KREC quantification…
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Keywords:
levels remain;
kappa deleting;
throughout life;
life ... See more keywords
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Published in 2020 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.13263
Abstract: The recent SARS‐CoV‐2 pandemic, which has recently affected Italy since February 21, constitutes a threat to normal subjects, as the coronavirus disease‐19 (COVID‐19) can manifest with a broad spectrum of clinical phenotypes ranging from asymptomatic…
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Keywords:
two linked;
covid;
patients develop;
agammaglobulinemia patients ... See more keywords
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Published in 2019 at "Pediatric Transplantation"
DOI: 10.1111/petr.13625
Abstract: X‐linked agammaglobulinemia (XLA) is a primary antibody disorder due to a mutation in the Bruton tyrosine kinase gene that requires lifelong immunoglobulin replacement resulting in a significant economic burden and treatment abandonment. Hematopoietic stem cell…
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Keywords:
immunoglobulin replacement;
treosulfan;
stem cell;
transplantation ... See more keywords
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Published in 2020 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2020.02001
Abstract: Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia. The aim of this study was to…
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Keywords:
clinical features;
pseudomonas sepsis;
novel mutations;
gene ... See more keywords
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Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2023.1156823
Abstract: Purpose Patients with X-linked agammaglobulinemia (XLA) are characterized by humoral impairment and are routinely treated with intravenous immunoglobulin (IVIG). In this study, we aimed to investigate the presence of severe acute respiratory syndrome coronavirus 2…
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Keywords:
ivig preparations;
cov spike;
prevalence;
sars cov ... See more keywords