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Agammaglobulinemia

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https://www.readbyqxmd.com/read/29725548/a-case-report-of-nongerminal-center-b-cell-type-diffuse-large-b-cell-lymphoma-treated-to-complete-response-with-rituximab-and-ibrutinib
#1
Geoffrey Shouse, Miemie Thinn
Diffuse large B-cell lymphoma (DLBCL) is a molecularly heterogeneous disease consisting of different subtypes with varying clinical behaviors. For example, the activated B-cell-like (ABC) type of DLBCL has lower cure rates with traditional chemotherapy regimens. The molecular pathway promoting tumorigenic growth of the ABC type includes a dependence on intracellular signaling by Bruton's agammaglobulinemia tyrosine kinase (BTK). This specific pathway has led to the investigation of the utility of ibrutinib in treatment of this type of lymphoma at relapse or in combination with standard chemotherapy...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29717662/the-role-of-bruton-s-tyrosine-kinase-in-immune-cell-signaling-and-systemic-autoimmunity
#2
Jasper Rip, Esmee K Van Der Ploeg, Rudi W Hendriks, Odilia B J Corneth
Bruton's tyrosine kinase (BTK) is an intracellular signaling molecule first identified as the molecule affected in X-linked agammaglobulinemia (XLA) patients, who almost completely lack peripheral B cells and serum immunoglobulins. BTK is crucial for B cell development and various B cell functions, including cytokine and natural antibody production. Importantly, it is also expressed in numerous other cells, including monocytes, macrophages, granulocytes, dendritic cells, and osteoclasts. A few rare cases of autoimmune disease in XLA patients have been described...
2018: Critical Reviews in Immunology
https://www.readbyqxmd.com/read/29693060/-helicobacter-cinaedi-bacteremia-mimicking-eosinophilic-fasciitis-in-a-patient-with-x-linked-agammaglobulinemia
#3
Ashley Hill, Adam Byrne, Danielle Bouffard, Me Linh Luong, Melissa Saber, Hugo Chapdelaine
No abstract text is available yet for this article.
May 2018: JAAD Case Reports
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#4
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29651973/the-clinical-and-immunological-features-of-patients-with-primary-antibody-deficiencies
#5
Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kiyoomars Poorrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications. METHODS: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications. RESULTS: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63...
April 12, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29567142/molecular-characterization-and-function-analysis-of-grouper-epinephelus-coioides-bruton-s-tyrosine-kinase-btk
#6
Ze-Quan Mo, Qing Han, Yu-Long Zeng, Jiu-Le Wang, Xue-Zhu Li, Yan-Wei Li, Hong-Yan Sun, An-Xing Li, Xiao-Chun Luo, Xue-Ming Dan
Bruton's tyrosine kinase (BTK) is a Tec-family tyrosine kinase and plays a crucial role in B cell antigen receptor (BCR) signal pathway. Mutations in humans and mice BTK gene results in X-linked agammaglobulinemia (XLA) and X-linked immunodeficiency (XLD), respectively. To study the function of BTK in teleost, we cloned a BTK gene from orange-spotted grouper. Homology analysis showed that the grouper BTK (EcBTK) had a high amino acid identity with other vertebrates (63%-92%) and shared the highest amino acid identity with ballan wrasse Labrus bergylta BTK...
March 19, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29503650/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
#7
Gesmar R S Segundo, Anh T V Nguyen, Huyen T Thuc, Le N Q Nguyen, Roger H Kobayashi, Hai T Le, Huong T M Le, Troy R Torgerson, Hans D Ochs
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...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29491300/emergence-of-carbapenem-non-susceptible-campylobacter-coli-after-long-term-treatment-against-recurrent-bacteremia-in-a-patient-with-x-linked-agammaglobulinemia
#8
Hideharu Hagiya, Keigo Kimura, Isao Nishi, Hisao Yoshida, Norihisa Yamamoto, Yukihiro Akeda, Kazunori Tomono
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. Although hospitalization for intravenous treatment was repeatedly recommended, he obstinately declined it. Following long-term oral antibiotic treatment with tebipenem and faropenem for the persistent infection, C. coli showed elevated minimum inhibitory concentrations to meropenem, a key drug for severe campylobacteriosis...
February 28, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29455639/role-of-bruton-s-tyrosine-kinase-in-b-cells-and-malignancies
#9
REVIEW
Simar Pal Singh, Floris Dammeijer, Rudi W Hendriks
Bruton's tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor activity, first in animal models and subsequently in clinical studies...
February 19, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29424453/clinical-and-genetic-features-of-the-patients-with-x-linked-agammaglobulinemia-from-turkey-single-centre-experience
#10
S Esenboga, D Cagdas, T T Ozgur, P Gur Cetinkaya, L M Turkdemir, O Sanal, M VanDerBurg, I Tezcan
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. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated...
March 2018: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/29356289/x-linked-agammaglobulinemia-complicated-with-pulmonary-aspergillosis
#11
Kentaro Nishi, Toshinao Kawai, Mitsuru Kubota, Akira Ishiguro, Masafumi Onodera
No abstract text is available yet for this article.
January 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29335801/igm-augments-complement-bactericidal-activity-with-serum-from-a-patient-with-a-novel-cd79a-mutation
#12
Jeroen D Langereis, Stefanie S Henriet, Saskia Kuipers, Corry M R Weemaes, Mirjam van der Burg, Marien I de Jonge, Michiel van der Flier
Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists. Especially patients with IgM deficiency remain at risk for recurrent infections of the gastrointestinal and respiratory tract. The lack of IgM in the current IgG replacement therapy is likely to contribute to the persistence of these mucosal infections because this antibody class is especially important for complement activation on the mucosal surface...
February 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29202590/delayed-diagnosis-in-x-linked-agammaglobulinemia-and-its-relationship-to-the-occurrence-of-mutations-in-btk-non-kinase-domains
#13
Eduardo Carrillo-Tapia, Elizabeth García-García, Norma Estela Herrera-González, Marco Antonio Yamazaki-Nakashimada, Aidee Tamara Staines-Boone, Nora Hilda Segura-Mendez, Selma Cecilia Scheffler-Mendoza, Patricia O Farrill-Romanillos, Maria E Gonzalez-Serrano, Juan Carloa Rodriguez-Alba, Leopoldo Santos-Argumedo, Laura Berron-Ruiz, Alejandro Sanchez-Flores, Gabriela López-Herrera
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. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations...
January 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29178053/autosomal-recessive-agammaglobulinemia-due-to-a-homozygous-mutation-in-pik3r1
#14
Paoyun Tang, Julia E M Upton, Michelle A Barton-Forbes, Marina I Salvadori, Meghan P Clynick, April K Price, Sharan L Goobie
The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells...
January 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28990652/bronchiectasis-and-deteriorating-lung-function-in-agammaglobulinaemia-despite-immunoglobulin-replacement-therapy
#15
A Stubbs, C Bangs, B Shillitoe, J D Edgar, S O Burns, M Thomas, H Alachkar, M Buckland, E McDermott, G Arumugakani, M S Jolles, R Herriot, P D Arkwright
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...
February 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28977313/newborn-screening-for-severe-combined-immunodeficiencies-using-trecs-and-krecs-second-pilot-study-in-brazil
#16
Marilia Pyles P Kanegae, Lucila Akune Barreiros, Jusley Lira Sousa, Marco Antônio S Brito, Edgar Borges de Oliveira, Lara Pereira Soares, Juliana Themudo L Mazzucchelli, Débora Quiorato Fernandes, Sonia Marchezi Hadachi, Silvia Maia Holanda, Flavia Alice T M Guimarães, Maura Aparecida P V V Boacnin, Marley Aparecida L Pereira, Joaquina Maria C Bueno, Anete Sevciovic Grumach, Regina Sumiko W Di Gesu, Amélia Miyashiro N Dos Santos, Newton Bellesi, Beatriz T Costa-Carvalho, Antonio Condino-Neto
OBJECTIVE: To validate the quantification of T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs) by real-time polymerase chain reaction (qRT-PCR) for newborn screening of primary immunodeficiencies with defects in T and/or B cells in Brazil. METHODS: Blood samples from newborns and controls were collected on filter paper. DNA was extracted and TRECs, and KRECs were quantified by a duplex real-time PCR. The cutoff values were determined by receiver operating characteristic curve analysis using SPSS software (IBM®, Armonk, NY, USA)...
January 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28970295/infectious-and-non-infectious-complications-in-primary-immunodeficiency-disorders-an-autopsy-study-from-north-india
#17
Kirti Gupta, Amit Rawat, Parimal Agrawal, Ankur Jindal, Ritambhra Nada, Biman Saikia, Koon Wing Chan, Yu Lung Lau, Ranjana Walker Minz, Surjit Singh
BACKGROUND: Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. With the evolution of molecular diagnosis, many of these children are being diagnosed early and offered appropriate therapy...
September 28, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28856582/helicobacter-bilis-associated-suppurative-cholangitis-in-a-patient-with-x-linked-agammaglobulinemia
#18
Nicolas Degand, Justine Dautremer, Benoît Pilmis, Agnès Ferroni, Fanny Lanternier, Julie Bruneau, Olivier Hermine, Stéphane Blanche, Xavier Nassif, Olivier Lortholary, Marc Lecuit
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. PURPOSE: We aimed at understanding the microbial etiology in a patient with X-linked agammaglobulinemia presenting with suppurative cholangitis. METHODS: 16S rDNA PCR directly performed on a liver biopsy retrieved DNA of H. bilis. RESULTS: Clinical outcome resulted in the normalization of clinical and biological parameters under antibiotic treatment by a combination of ceftriaxone, metronidazole, and doxycyclin followed by a 2-week treatment with moxifloxacin and a 2-month treatment with azithromycin...
October 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28807838/large-btk-gene-mutation-in-a-child-with-x-linked-agammaglobulinemia-and-polyarthritis
#19
Dhrubajyoti Sharma, Aman Gupta, Shubham Goel, Madhubala Sharma, Amit Rawat, Surjit Singh
No abstract text is available yet for this article.
August 12, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28769069/autosomal-recessive-agammaglobulinemia-due-to-defect-in-%C3%AE-heavy-chain-caused-by-a-novel-mutation-in-the-ighm-gene
#20
P Silva, A Justicia, A Regueiro, S Fariña, J M Couselo, L Loidi
Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Nearly 30% of ARA cases present mutations in the μ heavy constant region gene IGHM. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the μ heavy chain...
September 2017: Genes and Immunity
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