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Agammaglobulinemia

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https://www.readbyqxmd.com/read/28422989/the-lack-of-btk-does-not-impair-monocytes-and-polymorphonuclear-cells-functions-in-x-linked-agammaglobulinemia-under-treatment-with-intravenous-immunoglobulin-replacement
#1
Filomena Monica Cavaliere, Alessandro Prezzo, Caterina Bilotta, Metello Iacobini, Isabella Quinti
The lack of BTK in X-linked agammaglobulinemia (XLA) patients does not affect monocytes and polymorphonuclear cells (PMN) phenotype and functions. In this study, we show that XLA patients had an increased frequency of the intermediate monocytes subset and that BTK-deficient monocytes and PMN had a normal expression of receptors involved in the activation and cellular responses. We demonstrate that BTK is not required for migration, phagocytosis and the production of reactive oxygen species (ROS) following engagement of FC gamma receptors (FcγR)...
2017: PloS One
https://www.readbyqxmd.com/read/28398200/pseudomonas-aeruginosa-liver-abscess-as-the-first-manifestation-of-x-linked-agammaglobulinemia-with-a-novel-mutation
#2
M A Muñoz-Miguelsanz, T Álvarez Morales, J A Martín García, M Martínez Gallo, J L Santos Pérez
No abstract text is available yet for this article.
2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28365793/a-child-with-x-linked-agammaglobulinemia-and-kawasaki-disease-an-unusual-association
#3
REVIEW
Dhrubajyoti Sharma, Sandesh Guleria, Deepti Suri, Amit Rawat, Ravinder Garg, Surjit Singh
An association of X-linked agammaglobulinemia (XLA) with Kawasaki disease (KD) is very uncommon. Only two case reports are available so far in pediatric literature. Patients with XLA have recurrent infections and physical examination have absent lymph nodes and tonsils. Laboratory investigations reveal hypogammaglobulinemia and reduced or absent B cells on flow cytometry. KD is a medium vessel vasculitis. Here, we report a 12 year old boy with X-linked agammaglobulinemia on regular replacement intravenous immunoglobulin who developed KD on follow-up...
April 1, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28362905/nitazoxanide-is-an-ineffective-treatment-of-chronic-norovirus-in-patients-with-x-linked-agammaglobulinemia-and-may-yield-false-negative-polymerase-chain-reaction-findings-in-stool-specimens
#4
Bjoern Kempf, J David Edgar, Conall Mc Caughey, Lisa A Devlin
No abstract text is available yet for this article.
February 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28361711/receptor-guided-3d-qsar-studies-molecular-dynamics-simulation-and-free-energy-calculations-of-btk-kinase-inhibitors
#5
Pavithra K Balasubramanian, Anand Balupuri, Hee-Young Kang, Seung Joo Cho
BACKGROUND: Bruton tyrosine kinase (Btk) plays an important role in B-cell development, differentiation, and signaling. It is also found be in involved in male immunodeficiency disease such as X-linked agammaglobulinemia (XLA). Btk is considered as a potential therapeutic target for treating autoimmune diseases and hematological malignancies. RESULTS: In this work, a combined molecular modeling study was performed on a series of thieno [3,2-c] pyridine-4-amine derivatives as Btk inhibitors...
March 14, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/28321612/serial-serum-immunoglobulin-g-igg-trough-levels-in-patients-with-x-linked-agammaglobulinemia-on-replacement-therapy-with-intravenous-immunoglobulin-its-correlation-with-infections-in-indian-children
#6
Deepti Suri, Sagar Bhattad, Avinash Sharma, Anju Gupta, Amit Rawat, Shobha Sehgal, Surjit Singh, Sudhir Gupta
Patients with primary antibody deficiency (PAD) are being increasingly diagnosed in the developing world. However, care of these children continues to remain suboptimal due to financial and social constraints. Immunoglobulin (Ig) trough level is an important predicting factor for infections in children on replacement immunoglobulin therapy. There are no data on this aspect from the developing world. Therefore, we studied serial immunoglobulin G (IgG) trough levels in 14 children with X-linked agammaglobulinemia (XLA) receiving replacement intravenous immunoglobulin (IVIG)...
March 21, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28304004/x-linked-agammaglobulinemia-first-case-with-bruton-tyrosine-kinase-mutation-from-pakistan
#7
Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#8
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28275140/antibody-independent-function-of-human-b-cells-contributes-to-antifungal-t-cell-responses
#9
Rui Li, Ayman Rezk, Hulun Li, Jennifer L Gommerman, Alexandre Prat, Amit Bar-Or
Fungal infections (e.g., Candida albicans) can manifest as serious medical illnesses, especially in the elderly and immune-compromised hosts. T cells are important for Candida control. Whether and how B cells are involved in antifungal immunity has been less clear. Although patients with agammaglobulinemia exhibit normal antifungal immunity, increased fungal infections are reported following B cell-depleting therapy, together pointing to Ab-independent roles of B cells in controlling such infections. To test how human B cells may contribute to fungal-associated human T cell responses, we developed a novel Ag-specific human T cell/B cell in vitro coculture system and found that human B cells could induce C...
March 8, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28261296/gastrointestinal-disorders-next-to-respiratory-infections-as-leading-symptoms-of-x-linked-agammaglobulinemia-in-children-34-year-experience-of-a-single-center
#10
Malgorzata Pac, Ewa A Bernatowska, Jarosław Kierkuś, Józef P Ryżko, Joanna Cielecka-Kuszyk, Teresa Jackowska, Bożena Mikołuć
INTRODUCTION: Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA individuals. MATERIAL AND METHODS: Of 1563 patients with primary immunodeficiencies diagnosed in the Department of Immunology, the Children's Memorial Health Institute (CMHI), 66 boys had a provisional diagnosis of agammaglobulinemia...
March 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28236219/gastrointestinal-manifestations-in-x-linked-agammaglobulinemia
#11
Sara Barmettler, Iris M Otani, Jasmit Minhas, Roshini S Abraham, Yenhui Chang, Morna J Dorsey, Zuhair K Ballas, Francisco A Bonilla, Hans D Ochs, Jolan E Walter
PURPOSE: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored. METHODS: We present a case report of a family with two affected patients with XLA. Given the gastrointestinal involvement of the grandfather in this family, we performed a retrospective descriptive analysis of XLA patients with reported diagnoses of GI manifestations and inflammatory bowel disease (IBD) or enteritis registered at the United States Immunodeficiency Network, a national registry of primary immunodeficiencies...
February 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28216434/human-nacht-lrr-and-pyd-domain-containing-protein-3-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-through-bruton-tyrosine-kinase
#12
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) and Bruton tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively. NLRP3 senses exogenous and endogenous insults, leading to inflammasome activation, which occurs spontaneously in patients with Muckle-Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date, few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified, and clinically promising pharmacologic targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28192143/lrrc8a-dependent-volume-regulated-anion-channel-activity-is-dispensable-for-t-cell-development-and-function
#13
Craig D Platt, Janet Chou, Patrick Houlihan, Yousef R Badran, Lalit Kumar, Wayne Bainter, P Luigi Poliani, Carlos J Perez, Sharon Y R Dent, David E Clapham, Fernando Benavides, Raif S Geha
BACKGROUND: Leucine-rich repeat containing 8A (LRRC8A) is a ubiquitously expressed transmembrane protein with 17 LRRs at its C-terminal end, and is an essential component of the volume regulated anion channel (VRAC) which controls cellular volume. A heterozygous mutation in LRRC8A that truncates the two terminal LRRs was reported in a patient with agammaglobulinemia and absent B cells, and was demonstrated to exert a dominant negative effect on T and B cell development in mice. Lrrc8a(-/-) mice have severely defective T cell development and function...
February 9, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28163721/inflammatory-duodenal-polyposis-associated-with-primary-immunodeficiency-disease-a-novel-case-report
#14
Irfan Ali Shera, Sheikh Mudassir Khurshid, Mohd Shafi Bhat
Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#15
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
January 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28018445/a-novel-btk-gene-mutation-c-82delc-p-arg28-alafs-5-in-a-korean-family-with-x-linked-agammaglobulinemia
#16
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton's tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy presented with recurrent sinusitis and otitis media after 6 months of age, and had a family history of 2 maternal uncles with XLA...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27869430/-sepsis-due-to-pseudomona-as-a-debut-of-a-primary-immunodeficiency-in-a-child
#17
M Cristina Vera Sáez-Benito, Marta López Úbeda, Paula Madurga Revilla, Antonio de Arriba Muñoz, Matilde Bustillo Alonso, Carmen Rodríguez-Vigil Iturrate
X-linked agammaglobulinemia is a primary humoral immunodeficiency. It is a recessive X-linked disorder characterized by low or absent circulating mature B cells, hypo/agammaglobulinemia and no humoral response to immunizations due to mutations along chromosome X. It is characterized by severe, recurrent and difficult treatment infections. It is diagnosed in the first 6 months of life in children; the only sign of alarm is the absent or decreased size of tonsils and lymph nodes, but it is not always present...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867589/bruton-s-agammaglobulinemia-in-an-adult-male-due-to-a-novel-mutation-a-case-report
#18
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/27795213/-clinic-of-humoral-primary-immunodeficiencies-in-adults-experience-in-a-tertiary-hospital
#19
Julio César Cambray-Gutiérrez, Diana Andrea Herrera-Sánchez, Lizbeth Blancas-Galicia, Patricia María O'Farrill-Romanillos
BACKGROUND: Primary immunodeficiencies (PID) are characterized by alteration of the components of the immune system. Humoral deficiencies represent 50%. The most common are selective IgA deficiency, Bruton agammaglobulinemia, and common variable immunodeficiency (CVID). OBJECTIVE: To describe the epidemiological and clinical characteristics of adults with humoral PID, cared for in a Primary Humoral Immunodeficiencies Clinic. METHODS: A descriptive cross-sectional study that included a year of analysis, including 35 patients with humoral PID, 31 with CVID, and 4 with Bruton agammaglobulinemia...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27722150/gastric-adenocarcinoma-in-a-patient-with-x-linked-agammaglobulinemia-and-hiv-case-report-and-review-of-the-literature
#20
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
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