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Hypogammaglobulinemia

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https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#1
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29313528/b-cell-aplasia-and-hypogammaglobulinemia-associated-with-levetiracetam
#2
Hulya Ozdemir, Sua Sumer, Hakan Karabagli, Gokhan Akdemir, A Zafer Caliskaner, Hasibe Artac
Levetiracetam (LEV) is a second-generation antiepileptic drug approved for the treatment of several types of epilepsy. We report a 45-year-old female who developed hypogammaglobulinemia and B cell aplasia during LEV treatment. The Naranjo probability score for an adverse drug reaction was 6. After LEV discontinuation, the number of B cells gradually increased and reached normal levels within two months. This case suggests that monitoring of immunoglobulin levels and lymphocyte subsets analysis is important in patients treated with LEV, especially in cases of prolonged infections...
January 9, 2018: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29277461/intra-cranial-granulomatous-disease-in-common-variable-immunodeficiency-case-series-and-review-of-the-literature
#3
REVIEW
Catherine E Najem, Jason Springer, Richard Prayson, Daniel A Culver, James Fernandez, Jinny Tavee, Rula A Hajj-Ali
BACKGROUND/PURPOSE: Common variable immunodeficiency (CVID) is typically characterized by hypogammaglobulinemia and often but not always recurrent infections. Paradoxically, 8-22% of patients with CVID develop granulomatous disease. Granulomata have been described in many organs including the lungs, skin, liver, spleen, kidneys, eyes, lymph nodes, and intestines. Data about central nervous system (CNS) involvement in CVID are extremely rare. We aim to describe a case series and include an extensive literature review of CNS involvement in CVID to understand the different features and patterns of the disease...
October 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29249107/-common-immunodeficiency-variable-in-adults
#4
Patricia María O'Farrill-Romanillos, Diana Andrea Herrera-Sánchez, Cecilia Hernández-Fernández, Eunice Giselle López-Rocha
Primary immunodeficiencies (PIDs) are low-incidence diseases caused by defects in genes involved in the development, maintenance, and regulation of the immune system. Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency of adulthood. It has an approximate prevalence of 1 in 25 000-50 000 in the general population, with a delay in diagnosis between 6-7 years. The clinical manifestations of CVID constitute six main categories: infections, pulmonary complications, granulomatous or polyclonal lymphocytic disease, autoimmunity, gastrointestinal diseases and malignancy Most patients must have at least one of the following clinical manifestations (infection, autoimmunity, lymphoproliferation)...
October 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29230214/exome-sequencing-identifies-a-novel-map3k14-mutation-in-recessive-atypical-combined-immunodeficiency
#5
Nikola Schlechter, Brigitte Glanzmann, Eileen Garner Hoal, Mardelle Schoeman, Britt-Sabina Petersen, Andre Franke, Yu-Lung Lau, Michael Urban, Paul David van Helden, Monika Maria Esser, Marlo Möller, Craig Kinnear
Primary immunodeficiency disorders (PIDs) render patients vulnerable to infection with a wide range of microorganisms and thus provide good in vivo models for the assessment of immune responses during infectious challenges. Priming of the immune system, especially in infancy, depends on different environmental exposures and medical practices. This may determine the timing and phenotype of clinical appearance of immune deficits as exemplified with early exposure to Bacillus Calmette-Guérin (BCG) vaccination and dissemination in combined immunodeficiencies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29217782/rational-management-approach-to-pure-red-cell-aplasia
#6
Suresh Kumar Balasubramanian, Meena Sadaps, Swapna Thota, Mai Aly, Bartlomiej P Przychodzen, Cassandra M Hirsch, Valeria Visconte, Tomas Radivoyevitch, Jaroslaw P Maciejewski
Pure red cell aplasia is an orphan disease without rationally established standard therapies. Most cases are idiopathic; a subset is antibody-mediated. There is overlap between idiopathic cases and those with T-large granular lymphocytic leukemia, hypogammaglobulinemia, and low-grade lymphomas. In all these, the pathogenetic mechanisms may involve autoreactive cytotoxic responses. We selected 62 uniformly diagnosed pure red cell aplasia patients and analyzed their pathophysiologic features and responsiveness to rationally applied first-line and salvage therapies to propose diagnostic and therapeutic algorithms that may help guide management of prospective patients...
December 7, 2017: Haematologica
https://www.readbyqxmd.com/read/29216227/immunoparesis-in-newly-diagnosed-multiple-myeloma-patients-effects-on-overall-survival-and-progression-free-survival-in-the-danish-population
#7
Rasmus Sørrig, Tobias W Klausen, Morten Salomo, Annette J Vangsted, Ulf Christian Frølund, Kristian T Andersen, Anja Klostergaard, Carsten Helleberg, Robert S Pedersen, Per T Pedersen, Sissel Helm-Petersen, Elena Manuela Teodorescu, Birgitte Preiss, Niels Abildgaard, Peter Gimsing
Immunoparesis (hypogammaglobulinemia) is associated to an unfavorable prognosis in newly diagnosed Multiple myeloma (MM) patients. However, this finding has not been validated in an unselected population-based cohort. We analyzed 2558 newly diagnosed MM patients in the Danish Multiple Myeloma Registry representing the entire MM population in Denmark from 2005-2013. Two-thousand two hundred and fifty three patients (90%) presented with reduction below lower normal levels of at least one uninvolved immunoglobulin...
2017: PloS One
https://www.readbyqxmd.com/read/29200144/clinical-challenges-identification-of-patients-with-novel-primary-immunodeficiency-syndromes
#8
David Buchbinder, Mikko Seppanen, V Koneti Rao, Gulbu Uzel, Diane Nugent
Novel primary immunodeficiency disorders are being identified with next generation sequencing technologies. We describe 1 patient with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency who had recurrent enhancing brain lesions, nodular pulmonary infiltrates, hepatosplenomegaly, immune cytopenias, as well as progressive hypogammaglobulinemia and lymphopenia. We describe a second patient with activated p110δ syndrome (APDS)/p110δ activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI) in association with recurrent respiratory tract infections, Epstein-Barr virus infection, lymphadenopathy, elevated serum IgM, and progressive lymphopenia...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29193103/intravenous-immunoglobulin-induced-acute-thrombocytopenia
#9
Anna Gurevich-Shapiro, Lilach Bonstein, Galia Spectre, Nardeen Atweh, Tsipora Gruenewal, Michael Shapiro, Boaz Tadmor, Pia Raanani
BACKGROUND: Intravenous immunoglobulin (IVIG) has known efficacy in various hematologic conditions, including immune thrombocytopenic purpura. STUDY DESIGN AND METHODS: We present the clinical course of a patient with splenic marginal zone lymphoma, who developed acute thrombocytopenia on three consecutive episodes, with nadir counts of 27 × 109 , 50 × 109 , and 9 × 109 /L, upon administration of Intratect IVIG for hypogammaglobulinemia. An immunofluorescence test applying flow cytometry and monoclonal antibody immobilization of platelet antigens (MAIPA) assay were used to evaluate the reaction between IgG present in the IVIG preparations and the patient's or healthy donors' platelets (PLTs)...
November 29, 2017: Transfusion
https://www.readbyqxmd.com/read/29191714/subcutaneous-immunoglobulins-in-patients-with-multiple-myeloma-and-secondary-hypogammaglobulinemia
#10
Angelo Vacca, Carolina Marasco, Assunta Melaccio, Azzurra Sportelli, Ilaria Saltarella, Antonio Solimando, Franco Dammacco, Roberto Ria
Multiple myeloma is commonly associated with a reduction of non-paraprotein immunoglobulins, resulting in a higher risk of infections that represent the leading cause of the patients' death. Therefore, immunoglobulin replacement therapy appears a logical approach. A total number of 46 myeloma patients were enrolled: 24 of them were assigned to receive subcutaneous immunoglobulins, and 22 were controls. The primary endpoint was the evaluation of the annual rate of severe infections in immunoglobulins-receiving patients as compared with those untreated...
November 27, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29185156/hematopoietic-stem-cell-transplantation-for-pulmonary-alveolar-proteinosis-associated-with-primary-immunodeficiency-disease
#11
Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio
Pulmonary alveolar proteinosis (PAP) is a rare disorder that is characterized by the excessive accumulation of surfactant-like materials in the alveoli, leading to hypoxemic respiratory failure. We describe two Japanese infants with PAP associated with hypogammaglobulinemia and monocytopenia. These patients may have underlying primary immunodeficiency (PID) and were successfully treated with allogeneic hematopoietic stem cell transplantation (HSCT). This report indicates that allogeneic HSCT may provide a curative treatment for PAP associated with PID...
November 28, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29180260/a-novel-de-novo-activating-mutation-in-stat3-identified-in-a-patient-with-common-variable-immunodeficiency-cvid
#12
Mark A Russell, Manuela Pigors, Maha E Houssen, Ania Manson, David Kelsell, Hilary Longhurst, Noel G Morgan
Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. Recently, variants within the gene encoding the transcription factor STAT3 were implicated in monogenic CVID. Here, we describe a patient presenting with symptoms synonymous with CVID, who displayed reduced levels of IgG and IgA, repeated viral infections and multiple additional co-morbidities...
November 24, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29178053/autosomal-recessive-agammaglobulinemia-due-to-a-homozygous-mutation-in-pik3r1
#13
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...
November 25, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29174859/management-of-hypogammaglobulinemia-and-recurrent-infections-in-a-chronic-lymphocytic-leukemia-patient-receiving-ibrutinib
#14
Fonda Jiang, Prashant Verma
No abstract text is available yet for this article.
November 23, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/29174094/missense-mutation-of-ttc7a-mimicking-tricho-hepato-enteric-sd-the-syndrome-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#15
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29145787/pneumocystosis-in-dogs-meta-analysis-of-43-published-cases-including-clinical-signs-diagnostic-procedures-and-treatment
#16
Christiane Weissenbacher-Lang, Andrea Fuchs-Baumgartinger, Abigail Guija-De-Arespacochaga, Andrea Klang, Herbert Weissenböck, Frank Künzel
We evaluated 43 published cases of dogs with confirmed Pneumocystis infection regarding the value of clinical parameters indicating the presence of the disease as well as tools for the detection of the pathogen. The assessed parameters included clinical signs, laboratory findings, results of thoracic radiography, autopsy, histopathology, methods for the detection of Pneumocystis, as well as medical therapy. Pneumocystosis was diagnosed most often in certain breeds (Cavalier King Charles Spaniel, Miniature Dachshund) with a predisposition for impaired immunity...
November 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29132694/unrelated-immunodeficiency-states-may-impact-outcomes-and-immune-checkpoint-molecule-expression-in-patients-with-mycosis-fungoides-a-clinicopathologic-case-control-study
#17
Shay Warren, Meenal Kheterpal, Patricia L Myskowski, Alison Moskowitz, Steven M Horwitz, Melissa P Pulitzer
BACKGROUND: Immunodeficiency (ID) correlates with worse outcomes and decreased immune checkpoint molecule expression in melanoma. The impact of ID in mycosis fungoides (MF) is unknown. OBJECTIVE: Our goal was to evaluate the impact of ID in MF. METHODS: We conducted a case-control study of 17 patients with MF and ID versus age-, stage-, and race-matched controls as a subset of a comparative analysis of 23 patients with MF with ID (prior lymphoma, recent/current pregnancy, HIV, hypogammaglobulinemia, and prior chemotherapy) versus without ID...
November 10, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29114388/epistatic-interactions-between-mutations-of-taci-tnfrsf13b-and-tcf3-result-in-a-severe-primary-immunodeficiency-disorder-and-systemic-lupus-erythematosus
#18
Rohan Ameratunga, Wikke Koopmans, See-Tarn Woon, Euphemia Leung, Klaus Lehnert, Charlotte A Slade, Jessica C Tempany, Anselm Enders, Richard Steele, Peter Browett, Philip D Hodgkin, Vanessa L Bryant
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies where monogenetic causes account for only a fraction of cases. On this evidence, CVID is potentially polygenic and epistatic although there are, as yet, no examples to support this hypothesis. We have identified a non-consanguineous family, who carry the C104R (c.310T>C) mutation of the Transmembrane Activator Calcium-modulator and cyclophilin ligand Interactor (TACI, TNFRSF13B) gene. Variants in TNFRSF13B/TACI are identified in up to 10% of CVID patients, and are associated with, but not solely causative of CVID...
October 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29103189/modulation-of-the-interleukin-21-pathway-with-interleukin-4-distinguishes-common-variable-immunodeficiency-patients-with-more-non-infectious-clinical-complications
#19
Marylin Desjardins, Marianne Béland, Marieme Dembele, Duncan Lejtenyi, Jean-Phillipe Drolet, Martine Lemire, Christos Tsoukas, Moshe Ben-Shoshan, Francisco J D Noya, Reza Alizadehfar, Christine T McCusker, Bruce D Mazer
PURPOSE: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and clinical manifestations such as infections, autoimmunity, and malignancy. We sought to determine if responsiveness to interleukin-21 (IL-21), a key cytokine for B cell differentiation, correlates with distinct clinical phenotypes in CVID. METHODS: CVID subjects were recruited through the Canadian Primary Immunodeficiency Evaluative Survey registry. Peripheral blood mononuclear cells were cultured with anti-CD40 ± interferon-gamma, interleukin-4 (IL-4), IL-21, and/or IL-4+IL-21...
November 4, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29094629/infectious-diseases-and-immunological-markers-associated-with-patients-with-non-hodgkin-lymphoma-treated-with-rituximab
#20
Kleber Jordão de Souza, Rodrigo Sala Ferro, Luiz Euribel Prestes-Carneiro, Paula Andreia Martins Carrilho, Dewton de Moraes Vasconcelos
BACKGROUND: The use of rituximab (RTX) is increasing, even in developing countries. It has become the first-line therapy or adjuvant to chemotherapy (CHOP; cyclophosphamide, hydroxydaunorubicin, oncovin and prednisone) for various diseases, including B cell lymphoma and autoimmune diseases. AIM: We describe the infectious diseases and immunological markers associated with RTX treatment of patients with non-Hodgkin lymphoma (NHL). METHODS: Serum immunoglobulins were determined before and after intravenous immunoglobulin (IVIg) administration...
November 2, 2017: Immunopharmacology and Immunotoxicology
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