keyword
MENU ▼
Read by QxMD icon Read
search

XLA

keyword
https://www.readbyqxmd.com/read/27867589/bruton-s-agammaglobulinemia-in-an-adult-male-due-to-a-novel-mutation-a-case-report
#1
Yuanda Xu, Qi Qing, Xuesong Liu, Sibei Chen, Ziyi Chen, Xuefeng Niu, Yaxia Tan, Weiqun He, Xiaoqing Liu, Yimin Li, Rongchang Chen, Ling Chen
X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27593100/x-linked-agammaglobulinemia-twenty-years-of-single-center-experience-from-north-west-india
#2
Surjit Singh, Amit Rawat, Deepti Suri, Anju Gupta, Ravinder Garg, Biman Saikia, Ranjana Walker Minz, Shobha Sehgal, Koon-Wing Chan, Yu Lung Lau, Chikako Kamae, Kenichi Honma, Noriko Nakagawa, Kohsuke Imai, Shigeaki Nonoyama, Koichi Oshima, Noriko Mitsuiki, Osamu Ohara
BACKGROUND: X-linked agammaglobulinemia (XLA) is an X-linked genetic defect in maturation of B lymphocytes that results in the absence of B lymphocytes in the peripheral blood and profound hypogammaglobulinemia. It is caused by a mutation in the BTK gene located on the X chromosome. There are no large series describing XLA from the developing world. OBJECTIVE: To analyze the clinical features, immunologic and genetic characteristics, and outcomes of 36 patients with XLA diagnosed and managed for a period of 2 decades...
October 2016: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/27543875/shulman-disease-eosinophilic-fasciitis-in-x-linked-agammaglobulinemia
#3
A Pituch-Noworolska, H Mach-Tomalska, A Szaflarska, D Adamek
X-linked agammaglobulinemia (XLA) diagnosed in the first year of life is an immunodeficiency with a life-long indication for substitution of immunoglobulins, due to lack of B lymphocytes in the periphery. The decrease of bacterial infection frequency and severity is an effect of immunoglobulin replacement. However, in the majority of patients bronchiectasis and chronic sinusitis with an overgrown mucous membrane develop despite regular substitution. Autoimmune diseases as co-existing diseases in XLA are noted in a few patients presenting symptoms associated with arthritis, scleroderma and myositis...
June 2016: Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists
https://www.readbyqxmd.com/read/27535475/x-linked-agammaglobulinaemia-xla-presenting-with-neutropenia-and-pseudomonas-aeruginosa-cellulitis
#4
J M MacMahon, M Ni Chroinin, J Hourihane, T R Leahy
No abstract text is available yet for this article.
August 17, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27512878/clinical-characteristics-and-genetic-profiles-of-174-patients-with-x-linked-agammaglobulinemia-report-from-shanghai-china-2000-2015
#5
Xia-Fang Chen, Wei-Fan Wang, Yi-Dan Zhang, Wei Zhao, Jing Wu, Tong-Xin Chen
X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis...
August 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27412675/synthesis-of-a-novel-photoactivatable-glucosylceramide-cross-linker
#6
Monique Budani, Murugesapillai Mylvaganam, Beth Binnington, Clifford Lingwood
The biosynthesis of glucosylceramide (GlcCer) is a key rate-limiting step in complex glycosphingolipid (GSL) biosynthesis. To further define interacting partners of GlcCer, we have made a cleavable, biotinylated, photoreactive GlcCer analog in which the reactive nitrene is closely apposed to the GlcCer head group, by substituting the native fatty acid with d, l-2-aminohexadecanoic acid. Two amino-GlcCer diastereomer cross-linkers (XLA and XLB) were generated. XLB proved an effective lactosylceramide (LacCer) synthase substrate while XLA was inhibitory...
September 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27357411/comprehensive-activities-to-increase-recognition-of-primary-immunodeficiency-and-access-to-immunoglobulin-replacement-therapy-in-poland
#7
Małgorzata Pac, Ewa Bernatowska
UNLABELLED: The study presents an overview on current situation of primary immunodeficiency (PID) patients in Poland and the 2014 annual report of the Polish Working Group for Immunodeficiency (PWGID). The group was set up in 2005 to improve diagnosis, treatment, and care of patients with immunodeficiencies and currently includes 15 pediatric and 13 adult centers. According to PWGID report 4099, PID patients are recognized in Poland, with the prevalence 10.6/100,000. The majority of them (54...
August 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27187624/primary-immunodeficiency-and-recalcitrant-chronic-sinusitis-a-systematic-review
#8
Jill M Mazza, Sandra Y Lin
BACKGROUND: A subset of patients with chronic rhinosinusitis (CRS) has disease refractory to standard therapies. Primary immunodeficiency should be considered in this group. Past literature has demonstrated an association between immunodeficiency and chronic sinusitis. METHODS: A systematic literature search was performed using OVID, MEDLINE, EMBASE, and Cochrane databases to identify English language papers containing original human data on subjects with primary immunodeficiency and chronic sinusitis...
May 17, 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/27143082/-primary-hypogammaglobulinemia-complicated-with-liver-cirrhosis-and-literature-review
#9
Z H Deng, L R Jiang, B Zhang, Y Z Xu, C H Shen, T Zhou, Q Xia, T A Zhang
OBJECTIVE: To explore the pathogenesis, treatment and prognosis of primary hypogammaglobulinemia complicated with liver cirrhosis in a child. METHOD: Pathogenesis, treatment and prognosis of X-linked agammaglobulinemia (XLA ) complicated with liver cirrhosis in a child were analyzed in Shanghai Children's Medical Center.Using"primary hypogammaglobulinemia"and"liver cirrhosis"as keywords, literatures were searched from Pubmed and Chinese data of Weipu and Wanfang data from January 1988 to January 2015...
May 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27135842/-x-linked-agammaglobulinemia-in-adults-clinical-evolution
#10
Orlando B Giorgetti, María V Paolini, Matías M Oleastro, Diego S Fernández Romero
X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels and clinically by extracellular bacterial infections which mainly compromise the respiratory tract as well as recurrent diarrheas. The mainstay of treatment is gammaglobulin replacement therapy, which allows most patients to reach adulthood with high quality of life. We analyzed the clinical features of 14 patients over 18 years of age with XLA diagnosis that received treatment in our unit from the year 2003, the date the first patient was derived, until 2015...
2016: Medicina
https://www.readbyqxmd.com/read/27115112/-dermatomyositis-like-syndrome-in-x-linked-agammaglobulinemia
#11
P D Carvalho, C Costa, M Rodrigues, M J Salvador, J A Pereira da Silva, A Malcata
Primary immunodeficiencies (PIDs) encompass more than 250 different pathological conditions. X-linked agammaglobulinemia (XLA) has been occasionally associated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermatomyositis-like syndrome (DLS). This syndrome has been associated with cutaneous, muscular and central nervous system manifestations, accompanying a persistent infection by an Echovirus. According to sixteen previously reported cases, this syndrome has a poor prognosis...
January 2016: Acta Reumatológica Portuguesa
https://www.readbyqxmd.com/read/27010561/dynamic-allostery-mediated-by-a-conserved-tryptophan-in-the-tec-family-kinases
#12
Nikita Chopra, Thomas E Wales, Raji E Joseph, Scott E Boyken, John R Engen, Robert L Jernigan, Amy H Andreotti
Bruton's tyrosine kinase (Btk) is a Tec family non-receptor tyrosine kinase that plays a critical role in immune signaling and is associated with the immunological disorder X-linked agammaglobulinemia (XLA). Our previous findings showed that the Tec kinases are allosterically activated by the adjacent N-terminal linker. A single tryptophan residue in the N-terminal 17-residue linker mediates allosteric activation, and its mutation to alanine leads to the complete loss of activity. Guided by hydrogen/deuterium exchange mass spectrometry results, we have employed Molecular Dynamics simulations, Principal Component Analysis, Community Analysis and measures of node centrality to understand the details of how a single tryptophan mediates allostery in Btk...
March 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/26988533/nanoscale-precipitates-strengthened-lanthanum-bearing-mg-3sn-1mn-alloys-through-continuous-rheo-rolling
#13
R G Guan, Y F Shen, Z Y Zhao, R D K Misra
We elucidate the effect of lanthanum (La) on the microstructure and mechanical properties of Mg-3Sn-1Mn-xLa (wt.%) alloy plates processed through continuous rheo-rolling for the first time. At x = 0.2 wt.%, La dissolved completely in the α-Mg matrix. As the La content was increased to 0.6 wt.%, a new plate-shaped three-phase compound composed of La5Sn3, Mg2Sn and Mg17La2 phases was formed with an average length of 380 ± 10 nm and an average width of 110 ± 5 nm. This compound had a pinning effect on the α-Mg grain boundary and on dislocations...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26960951/clinical-and-mutational-features-of-x-linked-agammaglobulinemia-in-mexico
#14
E García-García, A T Staines-Boone, A Vargas-Hernández, M E González-Serrano, E Carrillo-Tapia, D Mogica-Martínez, L Berrón-Ruíz, N H Segura-Mendez, F J Espinosa-Rosales, M A Yamazaki-Nakashimada, L Santos-Argumedo, G López-Herrera
X-linked agammaglobulinemia (XLA) is caused by BTK mutations, patients typically show <2% of peripheral B cells and reduced levels of all immunoglobulins; they suffer from recurrent infections of bacterial origin; however, viral infections, autoimmune-like diseases, and an increased risk of developing gastric cancer are also reported. In this work, we report the BTK mutations and clinical features of 12 patients diagnosed with XLA. Furthermore, a clinical revision is also presented for an additional cohort of previously reported patients with XLA...
April 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/26931785/x-linked-agammagobulinemia-in-a-large-series-of-north-african-patients-frequency-clinical-features-and-novel-btk-mutations
#15
Zahra Aadam, Nadia Kechout, Abdelhamid Barakat, Koon-Wing Chan, Meriem Ben-Ali, Imen Ben-Mustapha, Fethi Zidi, Fatima Ailal, Nabila Attal, Fatouma Doudou, Mohamed-Cherif Abbadi, Chawki Kaddache, Leila Smati, Nabila Touri, Jalel Chemli, Tahar Gargah, Ines Brini, Amina Bakhchane, Hicham Charoute, Leila Jeddane, Sara El Atiqi, Naïma El Hafidi, Mustapha Hida, Rachid Saile, Hanane Salih Alj, Rachida Boukari, Mohamed Bejaoui, Jilali Najib, Mohamed-Ridha Barbouche, Yu-Lung Lau, Fethi Mellouli, Ahmed Aziz Bousfiha
PURPOSE: X-linked agammagobulinemia (XLA) is a primary immunodeficiency caused by Bruton's tyrosine kinase (BTK) gene defect. XLA patients have absent or reduced number of peripheral B cells and a profound deficiency in all immunoglobulin isotypes. This multicenter study reports the clinical, immunological and molecular features of Bruton's disease in 40 North African male patients. METHODS: Fifty male out of 63 (male and female) patients diagnosed with serum agammaglobulinemia and non detectable to less than 2% peripheral B cells were enrolled...
April 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/26909497/x-linked-agammaglobulinemia
#16
REVIEW
Deepti Suri, Amit Rawat, Surjit Singh
X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe hypergammaglobulinemia and absent circulating B cells in the peripheral blood. Replacement immunoglobulin therapy is the main cornerstone of treatment. Aggressive management of intercurrent infections and prophylactic antimicrobials are needed...
April 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/26883540/enteroviruses-in-x-linked-agammaglobulinemia-update-on-epidemiology-and-therapy
#17
David Bearden, Marc Collett, P Lan Quan, Beatriz T Costa-Carvalho, Kathleen E Sullivan
X-linked agammaglobulinemia (XLA) has been associated with a broad range of infections, but enteroviral disease represents one of the most damaging infections. The risk of enteroviral infection in XLA is lower now than in the setting of intramuscular immunoglobulin or in patients without immunoglobulin replacement, but the rate of infection has not declined significantly in the era of intravenous immunoglobulin replacement. Enteroviruses can cause inflammation of nearly every organ, but in XLA, infections often manifest as dermatomyositis or chronic meningoencephalitis...
February 13, 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/26873735/allogeneic-stem-cell-transplantation-for-x-linked-agammaglobulinemia-using-reduced-intensity-conditioning-as-a-model-of-the-reconstitution-of-humoral-immunity
#18
Kazuhiro Ikegame, Kohsuke Imai, Motoi Yamashita, Akihiro Hoshino, Hirokazu Kanegane, Tomohiro Morio, Katsuji Kaida, Takayuki Inoue, Toshihiro Soma, Hiroya Tamaki, Masaya Okada, Hiroyasu Ogawa
BACKGROUND: We herein report the first case of X-linked agammaglobulinemia (XLA) that underwent allogeneic stem cell transplantation using reduced intensity conditioning (RIC). We chronologically observed the reconstitution of humoral immunity in this case. CASE PRESENTATION: The patient was a 28-year-old Japanese male with XLA who previously had life-threatening infectious episodes and was referred for the possible indication of allogeneic stem cell transplantation...
February 13, 2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/26856578/the-effects-of-prenatal-genetic-analysis-on-fetuses-born-to-carrier-mothers-with-primary-immunodeficiency-diseases
#19
Wen-I Lee, Jing-Long Huang, Kuo-Wei Yeh, Po-Jen Cheng, Tang-Her Jaing, Syh-Jae Lin, Li-Chen Chen, Liang-Shiou Ou, Tsung-Chieh Yao
OBJECTIVE: Prenatal genetic analysis in primary immunodeficiency diseases (PIDs) can decrease morbidity and mortality. METHODS: We compared the postnatal prognoses of index cases and their subsequent sibling-fetuses using prenatal genetic analysis. RESULTS: From 2007 to 2014, 14 sibling-fetuses receiving a prenatal diagnosis born to four mothers with WAS, three with X-CGD, and one each with IPEX, XLA and severe combined immunodeficiency [RAG2-SCID] were recruited...
2016: Annals of Medicine
https://www.readbyqxmd.com/read/26659727/oral-administration-of-bruton-s-tyrosine-kinase-inhibitors-impairs-gpvi-mediated-platelet-function
#20
Rachel A Rigg, Joseph E Aslan, Laura D Healy, Michael Wallisch, Marisa L D Thierheimer, Cassandra P Loren, Jiaqing Pang, Monica T Hinds, András Gruber, Owen J T McCarty
The Tec family kinase Bruton's tyrosine kinase (Btk) plays an important signaling role downstream of immunoreceptor tyrosine-based activation motifs in hematopoietic cells. Mutations in Btk are involved in impaired B-cell maturation in X-linked agammaglobulinemia, and Btk has been investigated for its role in platelet activation via activation of the effector protein phospholipase Cγ2 downstream of the platelet membrane glycoprotein VI (GPVI). Because of its role in hematopoietic cell signaling, Btk has become a target in the treatment of chronic lymphocytic leukemia and mantle cell lymphoma; the covalent Btk inhibitor ibrutinib was recently approved by the US Food and Drug Administration for treatment of these conditions...
March 1, 2016: American Journal of Physiology. Cell Physiology
keyword
keyword
65050
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"