DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT

2021 ◽  
Vol 100 (2) ◽  
pp. 192-203
Author(s):  
I.V. Kondratenko ◽  
◽  
S.S. Vakhlayrskaya ◽  
D.V. Rogozhin ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Clinical Manifestations ◽  
Main Role ◽  
Principles Of Treatment ◽  
The Subject ◽  
Next Generation Sequencing Ngs ◽  
Lrba Deficiency ◽  
Generation Sequencing

Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.

scholarly journals CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia

2021 ◽  
Author(s):  
Yi Qian ◽  
Yan Chen ◽  
Xiaoming Li
Keyword(s):  
Alpha Interferon ◽  
Past Medical History ◽  
Variant Allele Frequency ◽  
Significant Past Medical History ◽  
Chronic Neutrophilic Leukemia ◽  
Hypercellular Marrow ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Stat Pathway

AbstractChronic neutrophilic leukemia (CNL) is a rare but serious myeloid malignancy. In a review of reported cases for WHO-defined CNL, CSF3R mutation is found in about 90% cases and confirmed as the molecular basis of CNL. Concurrent mutations are observed in CSF3R-mutated CNL patients, including ASXL1, SETBP1, SRSF2, JAK2, CALR, TET2, NRAS, U2AF1, and CBL. Both ASXL1 and SETBP1 mutations in CNL have been associated with a poor prognosis, whereas, SRSF2 mutation was undetermined. Our patient was a 77-year-old man and had no significant past medical history and symptoms with leukocytosis. Bone marrow (BM) aspirate and biopsy revealed a markedly hypercellular marrow with prominent left-shifted granulopoiesis. Next-generation sequencing (NGS) of DNA from the BM aspirate of a panel of 28 genes, known to be pathogenic in MDS/MPN, detected mutations in CSF3R, SETBP1, and SRSF2, and a diagnosis of CNL was made. The patient did not use a JAK-STAT pathway inhibitor (ruxolitinib) but started on hydroxyurea and alpha-interferon and developed pruritus after 4 months of diagnosis and nasal hemorrhage 1 month later. Then, the patient was diagnosed with CNL with AML transformation and developed intracranial hemorrhage and died. We repeated NGS and found that three additional mutations were detected: ASXL1, PRKDC, MYOM2; variant allele frequency (VAF) of the prior mutations in CSF3R, SETBP1, and SRSF2 increased. The concurrence of CSF3RT618I, ASXL1, SETBP1, and SRSF2 mutation may be a mutationally detrimental combination and contribute to disease progression and AML transformation, as well as the nonspecific treatment of hydroxyurea and alpha-interferon, but the significance and role of PRKDC and MYOM2 mutations were not undetermined.

scholarly journals Arthritis in children with LRBA deficiency – case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Rotem Semo Oz ◽  
Melissa S. Tesher
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rheumatic Disease ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Joint Involvement ◽  
Female Ratio ◽  
Minimal Data ◽  
Lrba Deficiency

Abstract Background Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients. Case presentation and review results Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept. Conclusion Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.

A Tribute to Princip: Metapoetry and Commentaries

2015 ◽  
Vol 11 (2) ◽  
pp. 163-170
Author(s):  
Adrijana Marčetič
Keyword(s):  
The Other ◽  
Main Role ◽  
Standard Interpretation ◽  
Prose Style ◽  
The Everyday ◽  
Poetic Expression ◽  
The Subject ◽  
The One ◽  
The Great War

Just after the end of the Great War Miloš Crnjanski wrote a poem dedicated to Gavrilo Princip, the assassin of Archduke Franz Ferdinand of Austria, in Sarajevo, on 28 June 1914. The title of the poem is “A Tribute to Princip” (“Spomen Principu”), and it was first published in Crnjanski’s early book of poetry Lyrics of Ithaca (Lirika Itake, 1919). Forty years later Crnjanski wrote a commentary on the poem, a sort of its prose paraphrase, and entitled it “On the Poem about Princip” (“Uz pesmu o Principu”); it was published in his Commentaries on Lyrics of Ithaca (Komentari uz Liriku Itake, 1959). Although by no means as significant as his famous poem “Sumatra”, and equally famous “Explanation of Sumatra”, that is considered a kind of Crnjanski’s personal poetic manifesto, as well as a poetic manifesto of Serbian modernism in general, “A Tribute to Princip” and its explanation represent an equally important testimony to Crnjanski’s poetic sensibility and his literary inspiration. The subject of the poem, the manner of poetic expression, on the one side, and the prose style of its commentary, on the other, clearly indicate what was considered by young Crnjanski the main role of the new, modern poetry he was advocating for: the break with the tradition, the rejection of the old and no longer productive poetic and national myths, and the affirmation of the new role of poetry in the everyday life. Therefore, opposing the standard interpretation of the poem, in this paper I argue that “A Tribute to Princip” is not a political poem but a “poem about poem”, which we could read as metapoetry or a poetry poem, providing that we apply the term with a little more freedom.

1. Sudden Unexplained Death in a Psychiatric Patient – A Case Report: The Role of Phenothiazines and Physical Restraint

1997 ◽  
Vol 37 (2) ◽  
pp. 170-175 ◽  
Author(s):  
Anil Kumar
Keyword(s):  
Case Report ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Psychiatric Patients ◽  
Physical Restraint ◽  
Unexpected Death ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
The Subject

Psychotropic drug use has long been associated with sudden unexplained and unexpected death in psychiatric patients despite controversies surrounding the issue. Physical restraint following violent episodes in psychiatric in-patients is also associated with neurally mediated sudden cardiac death. A case where these two mechanisms have jointly resulted in sudden death is reported. The literature on the subject is reviewed and the measures which may be useful in reducing the incidence of such deaths are discussed. The need for accurate and detailed reporting of such cases is emphasized.

scholarly journals Detection of Listeria monocytogenes in a patient with meningoencephalitis using next-generation sequencing: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Zi-Wei Lan ◽  
Min-Jia Xiao ◽  
Yuan-lin Guan ◽  
Ya-Jing Zhan ◽  
Xiang-Qi Tang
Keyword(s):  
Listeria Monocytogenes ◽  
Next Generation Sequencing ◽  
Mammalian Cells ◽  
Clinical Manifestations ◽  
Bacterial Pathogen ◽  
Next Generation ◽  
Accurate Treatment ◽  
The Central Nervous System ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Listeria monocytogenes (L. monocytogenes) is a facultative intracellular bacterial pathogen which can invade different mammalian cells and reach to the central nervous system (CNS), leading to meningoencephalitis and brain abscesses. In the diagnosis of L. monocytogenes meningoencephalitis (LMM), the traditional test often reports negative owing to the antibiotic treatment or a low number of bacteria in the cerebrospinal fluid. To date, timely diagnosis and accurate treatment remains a challenge for patients with listeria infections. Case presentation We present the case of a 66-year-old woman whose clinical manifestations were suspected as tuberculous meningoencephalitis, but the case was finally properly diagnosed as LMM by next-generation sequencing (NGS). The patient was successfully treated using a combined antibacterial therapy, comprising ampicillin and trimethoprim-sulfamethoxazole. Conclusion To improve the sensitivity of LMM diagnosis, we used NGS for the detection of L. monocytogenes. Hence, the clinical utility of this approach can be very helpful since it provides quickly and trust results.

Role of Ancillary Techniques in Biliary Cytopathology Specimens

2019 ◽  
Vol 64 (1-2) ◽  
pp. 175-181 ◽  
Author(s):  
Lester Layfield
Keyword(s):  
Mutational Analysis ◽  
Diagnostic Sensitivity ◽  
Individual Gene ◽  
Duct Systems ◽  
Brushing Cytology ◽  
Standard Of Practice ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Biliary brushing cytology has become the standard of practice for the investigation of strictures of the biliary and pancreatic duct systems. The methodology however has a limitation in that it has low diagnostic sensitivity when only cytologic evaluation is used. A number of testing methodologies have been applied to brushing specimens in an attempt to improve overall sensitivity without loss of specificity. These have included DNA ploidy analysis, immunocytochemistry, individual gene mutational analysis, fluorescence in-situ hybridization (FISH), and next generation sequencing (NGS). Currently, FISH coupled with routine cytology appears to be the method of choice for improving diagnostic sensitivity. NGS shows significant promise for improvement of diagnostic sensitivity.

scholarly journals Genetics in cardiovascular diseases

2019 ◽  
Vol 13 (3) ◽  
pp. 137-151 ◽  
Author(s):  
Rudy Celeghin ◽  
Gaetano Thiene ◽  
Barbara Bauce ◽  
Cristina Basso ◽  
Kalliopi Pilichou
Keyword(s):  
Genetic Testing ◽  
Cardiovascular Diseases ◽  
Genetic Basis ◽  
Vascular Diseases ◽  
Current Evidence ◽  
Clinical Tool ◽  
Wide Group ◽  
Next Generation Sequencing Ngs ◽  
Probabilistic Nature

Cardiovascular diseases (CVDs) are a wide group of disorders affecting the heart and blood vessels, including coronary artery, valve, pericardial, conduction system, myocardial and vascular diseases, either congenital or acquired, which can be also heritable. The advent of next generation sequencing (NGS) was accompanied by quick advances in understanding the genetic basis of human diseases, prompting translation of genetics to the clinic. Precision medicine is based on these findings and on the role of genetic testing to improve the diagnosis, to identify individuals with previously unrecognized disease and family members at risk of future disease development which require longitudinal follow-up. However, the probabilistic nature of genetic testing and the subjectivity of genetic variants classification weighted on current evidence, making this powerful clinical tool difficult to be applied in precision diagnostics and therapeutics. Here, we reviewed systematically the genetic basis of CVDs with special emphasis on the current role of NGS in clinical diagnosis and risk assessment, underlying the need of multidisciplinary cardio-genetic referral centers.

scholarly journals Congenital Nasolacrimal Duct Cyst/Dacryocystocele: An Argument for a Genetic Basis

2012 ◽  
Vol 3 (1) ◽  
pp. ar.2012.3.0024 ◽  
Author(s):  
Henry P. Barham ◽  
Justin M. Wudel ◽  
Robert W. Enzenauer ◽  
Kenny H. Chan
Keyword(s):  
Case Report ◽  
Preterm Labor ◽  
Genetic Basis ◽  
Monozygotic Twins ◽  
Nasolacrimal Duct ◽  
Duct Cyst ◽  
Common Presentation ◽  
Inferior Meatus ◽  
Cystic Masses

Embryogenesis of a congenital nasolacrimal duct (NLD) cyst is attributed to the failure of the Hasner membrane of the NLD system to cannulate. Prenatal diagnosis of congenital NLD cysts supports the argument for a developmental error, with a postnatal prevalence of 6%. The role of a genetic basis for this malformation has never been ascribed. We present a set of monozygotic twins with bilateral congenital NLD cysts as an argument for a genetic basis of this entity. A case report and literature review were performed. We present two cases of bilateral congenital NLD cysts occurring in a set of monozygotic twins. Patients were delivered at 37 weeks via cesarean section. The pregnancy was complicated by preterm labor at 33 weeks requiring administration of terbutaline and betamethasone. At presentation, twin A had bilateral eye discharge, erythema, and swelling medial to the medial canthi as well as nasal obstruction. Computed tomography (CT) showed classic bilateral cystic masses in the inferior meatus. The diagnosis of bilateral infected congenital dacryocystoceles was made. Twin B initially presented with only bilateral eye discharge and CT showed a dilated NLD system. Twin B subsequently developed early signs of bilateral dacryocystoceles the following day. Both patients underwent lacrimal probing and endoscopic marsupialization of the dacryocystoceles. Biopsies were consistent with dacryocystocele. Dacryocystocele is a common presentation of unresolved neonatal NLD obstruction. This case report in a set of identical twins is an argument for a genetic basis for the formation of this lesion.

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