Read by QxMD icon Read


Joud Hajjar, Sana Hasan, Lisa R Forbes, Vagish Hemmige, Jordan S Orange
No abstract text is available yet for this article.
2016: Frontiers in Pediatrics
C I E Smith
BTK is a cytoplasmic protein-tyrosine kinase, whose corresponding gene was isolated in the early 1990s. BTK was initially identified by positional cloning of the gene causing X-linked agammaglobulinemia and independently in a search for new kinases. Given the phenotype of affected patients, namely lack of B-lymphocytes and plasma cells with the ensuing inability to mount humoral immune responses, BTK inhibitors were anticipated to have beneficial effects on antibody-mediated pathologies, such as autoimmunity...
September 26, 2016: Oncogene
Robert Roskoski
The Bruton non-receptor protein-tyrosine kinase (BTK), a deficiency of which leads to X-linked agammaglobulinemia, plays a central role in B cell antigen receptor signaling. Owing to the exclusivity of this enzyme in B cells, the acronym could represent B cell tyrosine kinase. BTK is activated by the Lyn and SYK protein kinases following activation of the B cell receptor. BTK in turn catalyzes the phosphorylation and activation of phospholipase Cγ2 leading to the downstream activation of the Ras/RAF/MEK/ERK pathway and the NF-κB pathways...
September 15, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Jacqueline Gofshteyn, Ana María Cárdenas, David Bearden
INTRODUCTION: Enterovirus may result in a devastating chronic encephalitis in immunocompromised patients, particularly in patients with X-linked agammaglobulinemia. Prognosis for patients with chronic enterovirus encephalitis is poor, almost invariably resulting in mortality without specific treatment. There are currently no approved antiviral agents for enterovirus, but the antidepressant drug fluoxetine has been identified through library-based compound screening as a potential anti-enteroviral agent in vitro...
June 25, 2016: Pediatric Neurology
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
Seyhan Kutluğ, Gönül Ogur, Aysegül Yilmaz, Peter E Thijssen, Ummet Abur, Alisan Yildiran
ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity of hypogammaglobulinemia, facial anomalies, and neuromotor growth retardation. Metaphase chromosome analysis revealed centromeric instability on chromosomes 1, 9, and 16 and through Sanger a previously unreported homozygous missense mutation (c...
September 8, 2016: American Journal of Medical Genetics. Part A
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
Kristina T Gemayel, Gary W Litman, Panida Sriaroon
No abstract text is available yet for this article.
October 2016: Annals of Allergy, Asthma & Immunology
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
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)
M-S Ouédraogo, N Korsaga Somé, G-P Tapsoba, A-N Ouédraogo, K-A Sondo, I-A Inouss, M-L Sanou, T Konsem, J Sakandé, F Barro Traoré, P Niamba, A Traoré
BACKGROUND: Ecthyma gangrenosum is an acute ulcer necrotic skin infection frequently caused by Pseudomonas aeruginosa. It is characterised by necrotic ulcerations circumscribed by an inflammatory halo. Lesions are normally found in the anal, genital and axillary regions. Ecthyma gangrenosum is most commonly seen in immunodepressed patients (cytotoxic chemotherapy, HIV infection, neutropenia or functional neutrophil deficiency, agammaglobulinemia). It is a rarely described complication in chicken pox...
October 2016: Annales de Dermatologie et de Vénéréologie
Bonnie K Harrington, Heather L Gardner, Raquel Izumi, Ahmed Hamdy, Wayne Rothbaum, Kevin R Coombes, Todd Covey, Allard Kaptein, Michael Gulrajani, Bart Van Lith, Cecile Krejsa, Christopher C Coss, Duncan S Russell, Xiaoli Zhang, Bridget K Urie, Cheryl A London, John C Byrd, Amy J Johnson, William C Kisseberth
Acalabrutinib (ACP-196) is a second-generation inhibitor of Bruton agammaglobulinemia tyrosine kinase (BTK) with increased target selectivity and potency compared to ibrutinib. In this study, we evaluated acalabrutinib in spontaneously occurring canine lymphoma, a model of B-cell malignancy similar to human diffuse large B-cell lymphoma (DLBCL). First, we demonstrated that acalabrutinib potently inhibited BTK activity and downstream effectors in CLBL1, a canine B-cell lymphoma cell line, and primary canine lymphoma cells...
2016: PloS One
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
Volker Wahn
Intravenous immunoglobulins (IVIGs) are currently used in many fields of medicine for replacement and immunomodulation. This review focuses on the milestones in the history of human immunoglobulins since the initial observation by Ogden C. Bruton who described replacement therapy in a boy with agammaglobulinemia. Since then, the preparations used for treatment have been markedly improved with respect to tolerability, clinical efficacy, and pathogen safety. Preparations and appropriate pumps for subcutaneous administration of IgG have been developed and offer an alternative mode of treatment for immunodeficient patients...
April 2016: Seminars in Hematology
Massimiliano Bergallo, Chiara Merlino, Davide Montin, Ilaria Galliano, Stefano Gambarino, Katia Mareschi, Franca Fagioli, Paola Montanari, Silvana Martino, Pier-Angelo Tovo
MicroRNAs (miRNAs) are short, single stranded, non-coding RNA molecules. They are produced by many different species and are key regulators of several physiological processes. miRNAs are also encoded by the genomes of multiple virus families, such as herpesvirus family. In particular, miRNAs from Epstein Barr virus were found at high concentrations in different associated pathologies, such as Burkitt's lymphoma, Hodgkin disease, and nasopharyngeal carcinoma. Thanks to their stability, these molecules could possibly serve as biomarkers for EBV-associated diseases...
September 2016: Molecular Biotechnology
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
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
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
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
Branwen A Bryan, Alex Battersby, Benjamin Martin James Shillitoe, Dawn Barge, Helen Bourne, Terry Flood, Andrew J Cant, Catherine Stroud, Andrew R Gennery
INTRODUCTION: Patients with congenital agammaglobulinemia, characterized by a defect in B lymphocyte differentiation causing B alymphocytosis, require life-long IgG replacement. There is scant literature regarding the effectiveness of IgG treatment at preventing mucosal (particularly sinopulmonary tract) infection and whether current management adequately restores "normal" health and quality of life (QoL). We aimed to document infective episodes pre- and post-commencing IgG replacement, determine any change in lung function and structure and assess respiratory status and QoL in a cohort of patients treated in Newcastle...
July 2016: Journal of Clinical Immunology
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"