485 results match your criteria Bruton Agammaglobulinemia


Concomitant diagnosis of immune deficiency and sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.

Cold Spring Harb Mol Case Stud 2018 Dec 17;4(6). Epub 2018 Dec 17.

Division of Infectious Disease, Department of Pediatrics, UCSD, San Diego, California 92093, USA.

X-linked agammaglobulinemia (XLA, OMIM#300300) is a rare monogenic primary immunodeficiency caused by mutations in the Bruton tyrosine kinase () gene. XLA is characterized by insufficient immunoglobulin levels and susceptibility to life-threatening bacterial infections. We report on a patient that presented with ecthyma gangrenosum and septicemia. Read More

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http://dx.doi.org/10.1101/mcs.a003244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318772PMC
December 2018
1 Read

Disseminated Spiroplasma apis Infection in Patient with Agammaglobulinemia, France.

Emerg Infect Dis 2018 Dec;24(12):2382-2386

We report a disseminated infection caused by Spiroplasma apis, a honeybee pathogen, in a patient in France who had X-linked agammaglobulinemia. Identification was challenging because initial bacterial cultures and direct examination by Gram staining were negative. Unexplained sepsis in patients with agammaglobulinemia warrants specific investigation to identify fastidious bacteria such as Spiroplasma spp. Read More

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http://dx.doi.org/10.3201/eid2412.180567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256403PMC
December 2018
2 Reads

Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2018 Oct 11;38(7):748-752. Epub 2018 Oct 11.

Department of Immunology and Microbiology, Laboratory of inborn errors of immunity, KU Leuven, Leuven, Belgium.

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http://link.springer.com/10.1007/s10875-018-0558-z
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http://dx.doi.org/10.1007/s10875-018-0558-zDOI Listing
October 2018
15 Reads

Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy.

Clin Drug Investig 2018 Oct;38(10):955-965

Economic Evaluation and HTA (EEHTA), CEIS, Faculty of Economics, University of Rome "Tor Vergata", Rome, Italy.

Background: In Italy, there is scarce evidence on the epidemiological and economic burden induced by primary antibody deficiencies.

Objective: The aim of this study was to elaborate the available epidemiological and cost data in order to estimate the annual expenditure induced by the management of patients affected by the common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) requiring immunoglobulin (Ig) replacement therapy.

Methods: A probabilistic cost-of-illness model was developed to estimate the number of patients with CVID and XLA, and the economic burden associated with their therapy in terms of direct or indirect costs. Read More

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http://link.springer.com/10.1007/s40261-018-0688-3
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http://dx.doi.org/10.1007/s40261-018-0688-3DOI Listing
October 2018
14 Reads

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.

Allergol Immunopathol (Madr) 2019 Jan - Feb;47(1):24-31. Epub 2018 Jul 30.

Department of Medical Genetics, Çukurova University Faculty of Medicine, Adana, Turkey.

Background: 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. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA.

Methods: Twenty-two children with XLA from 12 unrelated families were enrolled in this study. Read More

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http://dx.doi.org/10.1016/j.aller.2018.03.004DOI Listing
July 2018
7 Reads

A head-to-head Phase III study comparing zanubrutinib versus ibrutinib in patients with Waldenström macroglobulinemia.

Future Oncol 2018 Sep 5;14(22):2229-2237. Epub 2018 Jun 5.

CCC Ulm, University Hospital Ulm, Ulm, Germany.

Waldenström macroglobulinemia (WM), an incurable B-cell malignancy, is sensitive to Bruton tyrosine kinase (BTK) inhibition with ibrutinib, a first-generation BTK inhibitor. Off-target effects of ibrutinib against TEC- and EGFR-family kinases are implicated in some adverse events. Patients with CXCR4 and MYD88 mutations or who are MYD88 have less sensitivity to ibrutinib than those with MYD88 and CXCR4 disease. Read More

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http://dx.doi.org/10.2217/fon-2018-0163DOI Listing
September 2018
4 Reads

Case 1: Abscess in a 9-year-old Boy.

Pediatr Rev 2018 Jun;39(6):310

Department of General Pediatrics and Adolescent Medicine and.

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http://dx.doi.org/10.1542/pir.2017-0015DOI Listing
June 2018
3 Reads

A safety profile of medications used to treat Waldenström's macroglobulinemia.

Expert Opin Drug Saf 2018 Jun 6;17(6):609-621. Epub 2018 Jun 6.

a Servicio de Hematología, Hospital Universitario de Salamanca , Instituto de Investigación Biomédica de Salamanca (IBSAL), Centro de Investigación del Cáncer de Salamanca, CIBERONC , Salamanca , Spain.

Introduction: Waldenström's macroglobulinemia (WM) is a B-cell lymphoproliferative disease with serum IgM monoclonal component and bone marrow infiltration by lymphoplasmacytic lymphoma. Traditional therapy was based on that regimens used for closely related entities, such as chronic lymphocytic leukemia or multiple myeloma. This resulted in a lack of drugs specifically approved for WM, until the discovery of the Bruton Tyrosine Kinase (BTK) inhibitors. Read More

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http://dx.doi.org/10.1080/14740338.2018.1477936DOI Listing
June 2018
11 Reads

Targeting Bruton's tyrosine kinase for the treatment of B cell associated malignancies and autoimmune diseases: Preclinical and clinical developments of small molecule inhibitors.

Arch Pharm (Weinheim) 2018 Jul 9;351(7):e1700369. Epub 2018 May 9.

Department of Medicinal Chemistry, Key Laboratory of Chemical Biology (Ministry of Education), School of Pharmaceutical Sciences, Shandong University, Jinan, Shandong, P.R. China.

B cell receptor (BCR) signaling plays a key role in B cell development and function. Aberrant BCR signaling has been confirmed as a central driver for the pathogenesis of various B cell malignancies. Bruton's tyrosine kinase (BTK) is a vital component of BCR signaling and exhibits overexpression in various B cell leukemias and lymphomas. Read More

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http://dx.doi.org/10.1002/ardp.201700369DOI Listing
July 2018
5 Reads

[Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Apr;20(4):285-289

Department of Pediatrics, Yangluo Branch of the Third People′s Hospital of Hubei Province, Wuhan 430415, China.

This research investigated the clinical features of immunodeficiency disease and the features of the mutation of its pathogenic genes. All 7 patients were boys aged 5 months to 4 years and 6 months and had a history of recurrent respiratory infection and pneumonia, low levels of IgM and IgG, and abnormal absolute values or percentages of lymphocyte subsets. High-throughput sequencing showed c. Read More

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April 2018
4 Reads

The development of Bruton's tyrosine kinase (BTK) inhibitors from 2012 to 2017: A mini-review.

Eur J Med Chem 2018 May 23;151:315-326. Epub 2018 Mar 23.

School of Pharmaceutical Sciences, Guru Ghasidas Central University, Bilaspur (C.G.), 495009, India. Electronic address:

Bruton's tyrosine kinase (BTK) has emerged as a promising drug target for multiple diseases, particularly haematopoietic malignancies and autoimmune diseases related to B lymphocytes. This review focuses on the diverse, small-molecule inhibitors of BTK kinase that have shown good prospects for clinical application. Individual examples of these inhibitors, including both reversible and irreversible inhibitors and a recently developed reversible covalent inhibitor of BTK, are discussed. Read More

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http://dx.doi.org/10.1016/j.ejmech.2018.03.062DOI Listing
May 2018
10 Reads

A review of the etiology and clinical presentation of non-cystic fibrosis bronchiectasis: A tertiary care experience.

Respir Med 2018 04 24;137:35-39. Epub 2018 Feb 24.

Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey.

Introduction: Non-cystic fibrosis(CF) bronchiectasis has been recognized in children for the past 200 years. Early childhood pneumonia and underlying conditions such as immunodeficiency, primary ciliary dyskinesia(PCD), and congenital lung pathology should be considered in the etiology. The aim of our study was to describe the clinical characteristics, laboratory, and radiological findings of a large population of patients with non-CF bronchiectasis at a tertiary center. Read More

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http://dx.doi.org/10.1016/j.rmed.2018.02.013DOI Listing
April 2018
8 Reads

Inhibitor of Bruton's tyrosine kinases, PCI-32765, decreases pro-inflammatory mediators' production in high glucose-induced macrophages.

Int Immunopharmacol 2018 May 26;58:145-153. Epub 2018 Mar 26.

Department of Nephrology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, PR China. Electronic address:

Accumulating evidence has shown that macrophages play a vital role in development and pathogenesis of diabetic nephropathy (DN) by secreting inflammatory cytokines. Although Bruton's tyrosine kinases (Btk) is a biologically important molecule implicated in immune regulation, the role of Btk in high glucose (HG)-stimulated inflammatory response in macrophages and the mechanism involved need further investigation. In our study, we used bone marrow-derived macrophages (BMMs) to investigate the involvement of Btk on HG-induced inflammatory cytokines expression and to explore the underlying mechanisms. Read More

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http://dx.doi.org/10.1016/j.intimp.2018.03.019DOI Listing
May 2018
9 Reads

Bruton's tyrosine kinase regulates TLR7/8-induced TNF transcription via nuclear factor-κB recruitment.

Biochem Biophys Res Commun 2018 05 22;499(2):260-266. Epub 2018 Mar 22.

Kennedy Institute of Rheumatology, NDORMS, University of Oxford, Roosevelt Drive, Oxford, OX3 7FY, United Kingdom. Electronic address:

Tumour necrosis factor (TNF) is produced by primary human macrophages in response to stimulation by exogenous pathogen-associated molecular patterns (PAMPs) and endogenous damage-associated molecular patterns (DAMPs) via Toll-like receptor (TLR) signalling. However, uncontrolled TNF production can be deleterious and hence it is tightly controlled at multiple stages. We have previously shown that Bruton's tyrosine kinase (Btk) regulates TLR4-induced TNF production via p38 MAP Kinase by stabilising TNF messenger RNA. Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.03.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887515PMC
May 2018
6 Reads

Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia.

Pediatr Allergy Immunol 2018 06 15;29(4):453-456. Epub 2018 Apr 15.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.1111/pai.12893DOI Listing
June 2018
11 Reads

Pharmacokinetics of a novel human intravenous immunoglobulin 10% in patients with primary immunodeficiency diseases: Analysis of a phase III, multicentre, prospective, open-label study.

Eur J Pharm Sci 2018 Jun 6;118:80-86. Epub 2018 Mar 6.

Division of Pediatric Allergy/Immunology, John H. Stroger, Jr. Hospital of Cook County, 1969 W. Ogden Ave., Chicago, IL 60612, USA; Rush University Medical Center, 1653 W. Congress Parkway, Chicago, IL 60612, USA. Electronic address:

Intravenous immunoglobulin (IVIG) therapy is commonly used to treat patients with primary antibody deficiency. This prospective, open-label, non-randomised, multicentre, phase III trial investigated the pharmacokinetics of a new 10% liquid IVIG product (panzyga®; Octapharma) in 51 patients aged 2-75 years with common variable immunodeficiency (n = 43) or X-linked agammaglobulinaemia (n = 8). Patients were treated with IVIG 10% every 3 (n = 21) or 4 weeks (n = 30) at a dose of 200-800 mg/kg for 12 months. Read More

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http://dx.doi.org/10.1016/j.ejps.2018.03.007DOI Listing
June 2018
9 Reads

Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.

Front Immunol 2018 16;9:289. Epub 2018 Feb 16.

University of Washington and Seattle Children's Research Institute, Seattle, WA, United States.

Background: New sequencing techniques have revolutionized the identification of the molecular basis of primary immunodeficiency disorders (PID) not only by establishing a gene-based diagnosis but also by facilitating defect-specific treatment strategies, improving quality of life and survival, and allowing factual genetic counseling. Because these techniques are generally not available for physicians and their patients residing in developing countries, collaboration with overseas laboratories has been explored as a possible, albeit cumbersome, strategy. To reduce the cost of time and temperature-sensitive shipping, we selected Guthrie cards, developed for newborn screening, to collect dried blood spots (DBS), as a source of DNA that can be shipped by regular mail at minimal cost. Read More

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http://dx.doi.org/10.3389/fimmu.2018.00289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820318PMC
February 2018
9 Reads

Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia.

Intern Med 2018 Jul 28;57(14):2077-2080. Epub 2018 Feb 28.

Division of Infection Control and Prevention, Osaka University Hospital, Japan.

We herein report a case of recurrent Campylobacter coli bacteremia in a 37-year-old Japanese man with X-linked agammaglobulinemia (XLA). The patient experienced seven episodes of C. coli bacteremia over one year, with an erythematous rash intermittently emerged on the lower limbs. Read More

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http://dx.doi.org/10.2169/internalmedicine.0312-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096023PMC
July 2018
6 Reads

Membrane translocation of Bruton kinase in multiple myeloma cells is associated with osteoclastogenic phenotype in bone metastatic lesions.

Medicine (Baltimore) 2018 Jan;97(2):e9482

Department of Orthopedics, Huangshi Central Hospital, Affiliated Hospital of Hubei Polytechnic University, Huangshi, Hubei, China.

Using bone biopsy samples, we examined whether osteolytic cytokine profile is changed in situ in bone samples of metastatic multiple myeloma, and whether this creates an environment of lysis within the bone to which it has spread. This also produces the clinical features of increased circulating plasma calcium, and deleterious effects on the kidney.Using multiple myeloma biopsy and cell extracts from bone metastatic lesions, Bruton kinase, a tyrosine kinase, was demonstrated to be translocated to the membrane. Read More

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http://dx.doi.org/10.1097/MD.0000000000009482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943844PMC
January 2018
6 Reads

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Scand J Immunol 2018 Mar;87(3)

Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Read More

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http://dx.doi.org/10.1111/sji.12647DOI Listing
March 2018
2 Reads

X-linked agammaglobulinemia complicated with pulmonary aspergillosis.

Pediatr Int 2018 Jan;60(1):90-92

Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.13453DOI Listing
January 2018
5 Reads

An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.

Ann Allergy Asthma Immunol 2018 Feb 4;120(2):215-217. Epub 2018 Jan 4.

Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

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http://dx.doi.org/10.1016/j.anai.2017.11.017DOI Listing
February 2018
2 Reads

Systematic review of infectious events with the Bruton tyrosine kinase inhibitor ibrutinib in the treatment of hematologic malignancies.

Eur J Haematol 2018 Apr 6;100(4):325-334. Epub 2018 Feb 6.

Department of Medicine, Division of Hematology/Oncology, Vanderbilt University Medical Center, Nashville, TN, USA.

Objective: Ibrutinib is an irreversible inhibitor of Bruton tyrosine kinase (BTK) in B lymphocytes as well as other kinases including interleukin-2-inducible T-cell kinase (ITK) in CD4+ Th2 regulatory T cells. Increased infections have been observed in patients taking ibrutinib. The overall incidence has not been systematically evaluated. Read More

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http://dx.doi.org/10.1111/ejh.13020DOI Listing
April 2018
22 Reads

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

Expert Rev Clin Immunol 2018 01 11;14(1):83-93. Epub 2017 Dec 11.

a Unidad de Investigación en Inmunodeficiencias , Instituto Nacional de Pediatría, SSA , Ciudad de México , Mexico.

Background: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. Read More

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http://dx.doi.org/10.1080/1744666X.2018.1413349DOI Listing
January 2018
45 Reads

Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy.

Clin Exp Immunol 2018 02 3;191(2):212-219. Epub 2017 Nov 3.

Paediatric Allergy and Immunology, University of Manchester, Manchester, Manchester, UK.

Immunoglobulin replacement therapy enhances survival and reduces infection risk in patients with agammaglobulinaemia. We hypothesized that despite regular immunoglobulin therapy, some patients will experience ongoing respiratory infections and develop progressive bronchiectasis with deteriorating lung function. One hundred and thirty-nine (70%) of 199 patients aged 1-80 years from nine cities in the United Kingdom with agammaglobulinaemia currently listed on the UK Primary Immune Deficiency (UKPID) registry were recruited into this retrospective case study and their clinical and laboratory features analysed; 94% were male, 78% of whom had Bruton tyrosine kinase (BTK) gene mutations. Read More

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http://dx.doi.org/10.1111/cei.13068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758375PMC
February 2018
8 Reads
3.037 Impact Factor

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of gene in a young Indian individual with X-linked agammaglobulinemia.

F1000Res 2016 14;5:2667. Epub 2016 Nov 14.

Academy of Scientific and Innovative Research (AcSIR), CSIR Institute of Genomics and Integrative Biology, New Delhi, 110025, India.

X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a case of a young Indian boy suspected to have XLA. Read More

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http://dx.doi.org/10.12688/f1000research.9472.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590079PMC
November 2016
14 Reads

Opposing Effects of Nitazoxanide on Murine and Human Norovirus.

J Infect Dis 2017 09;216(6):780-782

Department of Gastroenterology and Hepatology, Erasmus MC-University Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1093/infdis/jix377DOI Listing
September 2017
1 Read

Ibrutinib for chronic graft-versus-host disease after failure of prior therapy.

Blood 2017 11 18;130(21):2243-2250. Epub 2017 Sep 18.

Division of Hematology, The Ohio State University Cancer Center, Columbus, OH.

Chronic graft-versus-host disease (cGVHD) is a serious complication of allogeneic stem cell transplantation with few effective options available after failure of corticosteroids. B and T cells play a role in the pathophysiology of cGVHD. Ibrutinib inhibits Bruton tyrosine kinase in B cells and interleukin-2-inducible T-cell kinase in T cells. Read More

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http://dx.doi.org/10.1182/blood-2017-07-793786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033048PMC
November 2017
27 Reads

Cardiac side effects of bruton tyrosine kinase (BTK) inhibitors.

Leuk Lymphoma 2018 07 13;59(7):1554-1564. Epub 2017 Sep 13.

a Department of Haematology , St Vincent's Hospital Melbourne , Fitzroy , Australia.

The development of bruton tyrosine kinase inhibitors (BTKi) has been a significant advancement in the treatment of chronic lymphocytic leukemia and related B-cell malignancies. As experience in using ibrutinib increased, the first drug to be licensed in its class, atrial fibrillation (AF) emerged as an important side effect. The intersection between BTKi therapy for B-cell malignancies and AF represents a complex area of management with scant evidence for guidance. Read More

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http://dx.doi.org/10.1080/10428194.2017.1375110DOI Listing
July 2018
21 Reads

Acalabrutinib (ACP-196): A Covalent Bruton Tyrosine Kinase Inhibitor with a Differentiated Selectivity and In Vivo Potency Profile.

J Pharmacol Exp Ther 2017 11 7;363(2):240-252. Epub 2017 Sep 7.

Acerta Pharma BV, Oss, The Netherlands.

Several small-molecule Bruton tyrosine kinase (BTK) inhibitors are in development for B cell malignancies and autoimmune disorders, each characterized by distinct potency and selectivity patterns. Herein we describe the pharmacologic characterization of BTK inhibitor acalabrutinib [compound 1, ACP-196 (4-[8-amino-3-[(2)-1-but-2-ynoylpyrrolidin-2-yl]imidazo[1,5-]pyrazin-1-yl]--(2-pyridyl)benzamide)]. Acalabrutinib possesses a reactive butynamide group that binds covalently to Cys481 in BTK. Read More

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http://jpet.aspetjournals.org/lookup/doi/10.1124/jpet.117.24
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http://dx.doi.org/10.1124/jpet.117.242909DOI Listing
November 2017
60 Reads

Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia.

J Clin Immunol 2017 Oct 31;37(7):727-731. Epub 2017 Aug 31.

Université Paris Descartes - Sorbonne Paris Cité, Service de Maladies infectieuses et Tropicales, Hôpital Necker-Enfants Malades, Centre d'Infectiologie Necker-Pasteur, Assistance Publique - Hôpitaux de Paris, Paris, France.

ᅟ: Helicobacter bilis is a commensal bacterium causing chronic hepatitis and colitis in mice. In humans, enterohepatic Helicobacter spp. are associated with chronic hepatobiliary diseases. Read More

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http://dx.doi.org/10.1007/s10875-017-0437-zDOI Listing
October 2017
32 Reads

Disseminated sepsis as presenting diagnosis of X-linked agammaglobulinaemia in a previously well 16-month-old child.

BMJ Case Rep 2017 Aug 29;2017. Epub 2017 Aug 29.

Department of Pediatrics, All India Institute of Medical Sciences Jodphur, Jodhpur, Rajasthan, India.

We report a previously healthy 16-month-old child who presented to us with membranous pharyngitis and ecthyma gangrenosum. In this patient, was isolated from throat swab, cerebrospinal fluid, skin swab, urine, blood and synovial fluid in a single admission. In further workup, this child was diagnosed as a case of X-linked agammaglobulinaemia. Read More

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http://dx.doi.org/10.1136/bcr-2017-221006DOI Listing
August 2017
11 Reads

Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis.

Clin Immunol 2017 10 12;183:109-111. Epub 2017 Aug 12.

Allergy Immunology Unit, Dept of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.

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http://dx.doi.org/10.1016/j.clim.2017.08.005DOI Listing
October 2017
6 Reads

Incidence and management of toxicity associated with ibrutinib and idelalisib: a practical approach.

Haematologica 2017 10 3;102(10):1629-1639. Epub 2017 Aug 3.

Division of Hematology, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.

The use of novel B-cell receptor signaling inhibitors results in high response rates and long progression-free survival in patients with indolent B-cell malignancies, such as chronic lymphocytic leukemia, follicular lymphoma, mantle cell lymphoma and Waldenström macroglobulinemia. Ibrutinib, the first-in-class inhibitor of Bruton tyrosine kinase, and idelalisib, the first-in-class inhibitor of phosphatidylinositol 3-kinase , have recently been approved for the treatment of several indolent B-cell malignancies. These drugs are especially being used for previously unmet needs, i. Read More

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http://dx.doi.org/10.3324/haematol.2017.164103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622847PMC
October 2017
45 Reads

Analysis of Efficacy and Tolerability of Bruton Tyrosine Kinase Inhibitor Ibrutinib in Various B-cell Malignancies in the General Community: A Single-center Experience.

Clin Lymphoma Myeloma Leuk 2017 07;17S:S53-S61

Department of Hematology and Oncology, Abington Jefferson Health, Abington, PA.

Background: Ibrutinib, an irreversible inhibitor of Bruton tyrosine kinase (BTK), is a novel drug that has shown significant efficacy and survival benefit for treatment of various B-cell malignancies. The primary objective of the present study was to investigate the efficacy of ibrutinib therapy in various B-cell malignancies in the general community. The secondary objectives included studying the adverse effects, ibrutinib-induced peripheral lymphocytosis, and effect on immunoglobulin levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S21522650173021
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http://dx.doi.org/10.1016/j.clml.2017.02.011DOI Listing
July 2017
14 Reads

X-Linked Agammaglobulinaemia: Outcomes in the modern era.

Clin Immunol 2017 10 17;183:54-62. Epub 2017 Jul 17.

Institute of Cellular Medicine, Newcastle University, 4th Floor, William Leech Building, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, United Kingdom.

Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. Read More

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http://dx.doi.org/10.1016/j.clim.2017.07.008DOI Listing
October 2017
67 Reads
3.672 Impact Factor

A Multicentre Study on the Efficacy, Safety and Pharmacokinetics of IqYmune®, a Highly Purified 10% Liquid Intravenous Immunoglobulin, in Patients with Primary Immune Deficiency.

J Clin Immunol 2017 Aug 15;37(6):539-547. Epub 2017 Jul 15.

Immunology Clinic Department, Children's Memorial Health Institute, Warsaw, Poland.

This multicentre, open-label, prospective, single-arm study was designed to evaluate the efficacy, pharmacokinetics, and safety of IqYmune®, a highly purified 10% polyvalent immunoglobulin preparation for intravenous administration in patients with primary immunodeficiency. IqYmune® was administered to 62 patients (aged 2-61 years) with X-linked agammaglobulinemia or common variable immune deficiency at a dose from 0.22 to 0. Read More

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http://dx.doi.org/10.1007/s10875-017-0416-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554475PMC
August 2017
13 Reads

IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia.

Pediatr Int 2017 Aug 14;59(8):945-946. Epub 2017 Jul 14.

Department of Pediatrics, Oita University Faculty of Medicine, Yufu, Oita, Japan.

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http://dx.doi.org/10.1111/ped.13329DOI Listing
August 2017
7 Reads

Bruton's tyrosine kinase inhibitors in B-cell lymphoma: current experience and future perspectives.

Authors:
T Seiler M Dreyling

Expert Opin Investig Drugs 2017 Aug 10;26(8):909-915. Epub 2017 Jul 10.

a Department of Internal Medicine III , University Hospital Grosshadern, Ludwig Maximilians University (LMU) , Munich , Germany .

Introduction: The Bruton tyrosine kinase (BTK) is a central hub in the B cell receptor (BCR) pathway and strongly influences B cell maturation, differentiation and proliferation. Not surprisingly, BTK plays an essential role in the pathogenesis of various B cell lymphomas. Inhibitors of BTK have broadened our therapeutic options in several B cell lymphomas and already are an integral element in the treatment of Mantle Cell Lymphoma (MCL), chronic lymphocytic leukemia (CLL) and Waldenström's marcoglobulinemia. Read More

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http://dx.doi.org/10.1080/13543784.2017.1349097DOI Listing
August 2017
9 Reads

Combined BTK and PI3Kδ Inhibition with Acalabrutinib and ACP-319 Improves Survival and Tumor Control in CLL Mouse Model.

Clin Cancer Res 2017 Oct 23;23(19):5814-5823. Epub 2017 Jun 23.

Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland.

Targeting the B-cell receptor (BCR) pathway with inhibitors of Bruton tyrosine kinase (BTK) and PI3Kδ is highly effective for the treatment of chronic lymphocytic leukemia (CLL). However, deep remissions are uncommon, and drug resistance with single-agent therapy can occur. studies support the effectiveness of combing PI3Kδ and BTK inhibitors. Read More

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http://clincancerres.aacrjournals.org/lookup/doi/10.1158/107
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http://dx.doi.org/10.1158/1078-0432.CCR-17-0650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626587PMC
October 2017
61 Reads

Bruton's tyrosine kinase (BTK) as a promising target in solid tumors.

Cancer Treat Rev 2017 Jul 9;58:41-50. Epub 2017 Jun 9.

Medical Oncology Department, Ramón y Cajal University Hospital, Madrid, Spain.

Bruton's tyrosine kinase (BTK) is a non-receptor intracellular kinase that belongs to the TEC-family tyrosine kinases together with bone marrow-expressed kinase (BMX), redundant-resting lymphocyte kinase (RLK), and IL-2 inducible T-Cell kinase (ITK). All these proteins play a key role in the intracellular signaling of both B and T lymphocytes. Recently, some preclinical data have demonstrated that BTK is present in certain tumor subtypes and in other relevant cells that are contributing to the tumor microenvironment such as dendritic cells, macrophages, myeloid derived suppressor cells and endothelial cells. Read More

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http://dx.doi.org/10.1016/j.ctrv.2017.06.001DOI Listing
July 2017
30 Reads

A phase I trial of PRN1008, a novel reversible covalent inhibitor of Bruton's tyrosine kinase, in healthy volunteers.

Br J Clin Pharmacol 2017 Nov 1;83(11):2367-2376. Epub 2017 Aug 1.

Principia Biopharma, Melbourne, Australia.

Aim: To evaluate the safety, tolerability, and pharmacokinetics/pharmacodynamics of PRN1008, a novel Bruton's tyrosine kinase (BTK) inhibitor, in healthy volunteers, and thus determine the dose range for future clinical studies.

Methods: This was a two-part randomized, placebo controlled study in healthy volunteers using a liquid formulation. Part I was a single ascending dose design with dose levels of 50-1200 mg (n = 6 active, two placebos per cohort); Part II was a multiple ascending dose design, with dose regimens ranging from 300 to 900 mg daily, either four times or twice daily for 10 days. Read More

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http://dx.doi.org/10.1111/bcp.13351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5651318PMC
November 2017
22 Reads

Ibrutinib Unmasks Critical Role of Bruton Tyrosine Kinase in Primary CNS Lymphoma.

Cancer Discov 2017 09 15;7(9):1018-1029. Epub 2017 Jun 15.

Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York.

Bruton tyrosine kinase (BTK) links the B-cell antigen receptor (BCR) and Toll-like receptors with NF-κB. The role of BTK in primary central nervous system (CNS) lymphoma (PCNSL) is unknown. We performed a phase I clinical trial with ibrutinib, the first-in-class BTK inhibitor, for patients with relapsed or refractory CNS lymphoma. Read More

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http://cancerdiscovery.aacrjournals.org/lookup/doi/10.1158/2
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http://dx.doi.org/10.1158/2159-8290.CD-17-0613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581705PMC
September 2017
19 Reads

Novel approaches to targeting MYD88 in Waldenström macroglobulinemia.

Expert Rev Hematol 2017 08 28;10(8):739-744. Epub 2017 Jun 28.

a Bing Center for Waldenström Macroglobulinemia , Dana-Farber Cancer Institute, Harvard Medical School , Boston , MA , USA.

Introduction: Waldenström macroglobulinemia (WM) is an incurable lymphoma characterized by the accumulation of IgM-producing lymphoplasmacytic cells in the bone marrow and other organs. Although WM patients can experience prolonged remissions, the disease invariably recurs advocating for the need of novel treatments in order to achieve higher response and survival rates. The discovery of a recurrent mutation in the MYD88 gene and an increased understanding behind the biology of MYD88 signaling have provided the opportunity to developing novel agents targeting the MYD88 pathway. Read More

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http://dx.doi.org/10.1080/17474086.2017.1343661DOI Listing
August 2017
34 Reads

Comparison of Bone Mineral Density in Common Variable Immunodeficiency and X-Linked Agammaglobulinaemia Patients.

Endocr Metab Immune Disord Drug Targets 2017 ;17(2):134-140

Research Center for Immunodeficiencies, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran. Iran.

Background: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders, resulting from different defects in the development and function of B cell lineage. Common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA) are two of the major types of PADs. Optimal growth and subsequently bone health could potentially compromise due to the interference of several factors in PAD with childhood onset. Read More

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http://dx.doi.org/10.2174/1871530317666170612093906DOI Listing
June 2018
36 Reads

Establishing a chemical genetic link between Bruton tyrosine kinase activity in malignant B cells and cell functions involved in the micro-environmental dialogue.

Br J Haematol 2017 09 1;178(6):949-953. Epub 2017 Jun 1.

Department I of Internal Medicine, University Hospital of Cologne, Centre of Integrated Oncology Cologne-Bonn, CECAD Centre of Excellence on "Cellular Stress Responses in Aging-associated Diseases", University of Cologne, Cologne, Germany.

To elucidate their mechanism of action, inhibitors of Bruton tyrosine kinase (BTK) and resistant BTK mutants were employed to dissect target-dependent cellular functions. BTK-C481S and -T474I, expressed in Ramos and NALM-6 cells, maintained BTK auto-phosphorylation under treatment with ibrutinib or dasatinib, respectively, which showed only modest cytotoxicity. Retained activity of BTK-T474 partially rescued cell migration from inhibition by dasatinib. Read More

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http://doi.wiley.com/10.1111/bjh.14781
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http://dx.doi.org/10.1111/bjh.14781DOI Listing
September 2017
20 Reads