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Common variable immunodeficiency

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https://www.readbyqxmd.com/read/28546693/disseminated-rhinosporidiosis-with-conjunctival-involvement-in-an-immunocompromised-patient
#1
Deepa John, Satheesh S T Selvin, Aparna Irodi, Pushpa Jacob
Rhinosporidiosis is a granulomatous infection of mucocutaneous tissue caused by Rhinosporidium seeberi that most commonly occurs in the nasal cavity. Ocular rhinosporidiosis affects primarily the conjunctiva. Diagnosis of rhinosporidiosis is based on strong clinical suspicion and is confirmed by histopathological examination. We report a rare case of conjunctival rhinosporidiosis in an immunocompromised patient (human immunodeficiency virus) with disseminated cutaneous rhinosporidiosis. A 44-year-old male presented with a swelling in the right upper eyelid for 6 months...
January 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#2
Jessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H Zackai, Kathleen E Sullivan, Donna M McDonald-McGinn
PURPOSE: Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral differences including speech delay, autism, and learning disabilities that would benefit from early interventions...
May 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28536745/health-related-quality-of-life-in-adult-patients-with-common-variable-immunodeficiency-disorders-and-impact-of-treatment
#3
Nicholas L Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O Seeborg, Marcia Boyle, Jordan S Orange
PURPOSE: Common variable immunodeficiency disorder (CVID) is a primary immunodeficiency disease (PIDD) often associated with severe and chronic infections. Patients commonly receive immunoglobulin (Ig) treatment to reduce the cycle of recurrent infection and improve physical functioning. However, how Ig treatment in CVID affects quality of life (QOL) has not been thoroughly evaluated. The purpose of a recent Immune Deficiency Foundation (IDF) mail survey was to assess the factors that are associated with QOL in patients with CVID receiving Ig treatment...
May 23, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28534034/clinical-and-mucosal-immune-correlates-of-hiv-1-semen-levels-in-antiretroviral-naive-men
#4
Brendan J W Osborne, Angie K Marsh, Sanja Huibner, Kamnoosh Shahabi, Cindy Liu, Tania Contente, Nico J D Nagelkerke, Colin Kovacs, Erika Benko, Lance Price, Kelly S MacDonald, Rupert Kaul
BACKGROUND: This study was done to characterize parameters associated with semen human immunodeficiency virus (HIV)-1 ribonucleic acid (RNA) viral load (VL) variability in HIV-infected, therapy-naive men. METHODS: Paired blood and semen samples were collected from 30 HIV-infected, therapy-naive men who have sex with men, and 13 participants were observed longitudinally for up to 1 year. Human immunodeficiency virus RNA, bacterial load by 16S RNA, herpesvirus (Epstein-Barr virus and cytomegalovirus [CMV]) shedding, and semen cytokines/chemokines were quantified, and semen T-cell subsets were assessed by multiparameter flow cytometry...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#5
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28512785/clinical-immunological-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#6
Gholamreza Azizi, Hassan Abolhassani, Seyed Alireza Mahdaviani, Zahra Chavoshzadeh, Peyman Eshghi, Reza Yazdani, Fatemeh Kiaee, Mohammadreza Shaghaghi, Javad Mohammadi, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. The patients have a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, autoimmunity and enteropathy. METHODS: A total of 17 LRBA-deficient patients were enrolled in this longitudinal study. For all patients, demographic information, clinical records, laboratory and molecular data were collected. RESULTS: Hypogammaglobulinemia were reported in 14 (82...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#7
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
May 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28488125/recurrent-infections-in-a-patient-with-psoriatic-arthritis-and-hypogammaglobulinemia-treated-with-conventional-and-biologic-disease-modifying-anti-rheumatic-drugs-a-primary-or-secondary-entity
#8
REVIEW
Ewa Więsik-Szewczyk, Aleksandra Kucharczyk, Katarzyna Świerkocka, Elżbieta Rutkowska, Karina Jahnz-Różyk
A 54-year-old man with confirmed psoriatic arthritis, treated with conventional and biologic disease-modifying anti-rheumatic drugs, suffered from severe, recurrent respiratory tract infections. He was found to have hypogammaglobulinemia. Further investigations confirmed the diagnosis of common variable immunodeficiency. Introduction of immunoglobulin G replacement therapy allowed for safe and effective treatment of psoriatic arthritis with etanercept and methotrexate. Patients with a history of recurrent infections on disease-modifying anti-rheumatic drugs and hypogammaglobulinemia should be assessed for primary antibody immunodeficiencies, even in adulthood...
May 9, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28485330/secondary-amenorrhea-in-a-patient-with-common-variable-immunodeficiency
#9
Qian-Hui Zhou, Ping Chen, Hong Peng, Ruo-Yun Ouyang, Dai-Qiang Li
No abstract text is available yet for this article.
May 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28480635/drug-induced-cutaneous-lupus-erythematosus-after-immunoglobulin-treatment-in-chronic-inflammatory-demyelinating-polyneuropathy-a-case-series
#10
Max E Adrichem, Markus V Starink, Ester Mm van Leeuwen, Christine Kramer, Ivo N van Schaik, Filip Eftimov
We describe six patients with cutaneous lupus erythematosus (cLE) during immunoglobulin G (IgG) treatment. Five patients were diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and one patient with possible CIDP. Five patients received intravenous immunoglobulin (IVIg) and one patient subcutaneous immunoglobulin (SCIg). Skin lesions were systematically assessed by a dermatologist including skin biopsies. Patients showed disseminated erythematous plaques on several parts of the body with predominance of the chest and face...
May 8, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28476306/infliximab-as-treatment-of-severe-enteropathy-in-a-patient-with-common-variable-immunodeficiency-and-cytomegalovirus-infection
#11
Janire Prieto Elordui, Paz Arreba Gonzalez, Jone Ortiz de Zarate Sagastagoitia, Laura Deiss Pascual, Sonia Blanco Sampascual, Amaia Baranda Martín, Angel Calderón García, Carmen Muñoz Villafranca
No abstract text is available yet for this article.
May 2, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28476239/defective-il-4-signaling-in-t-cells-defines-severe-common-variable-immunodeficiency
#12
Eli Taraldsrud, Børre Fevang, Silje F Jørgensen, Kristine Moltu, Vera Hilden, Kjetil Taskén, Pål Aukrust, June H Myklebust, Johanna Olweus
Common variable immunodeficiency (CVID) is defined by hypogammaglobulinemia and B-cell dysfunction, with significant clinical and immunological heterogeneity. Severe non-infectious complications, such as autoimmunity, granulomatous disease and splenomegaly, constitute a major cause of morbidity in CVID patients. T cells are generally regarded important for development of these clinical features. However, while T-cell abnormalities have been found in CVID patients, functional characteristics of T cells corresponding to well-defined clinical subtypes have not been identified...
May 2, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28473463/recessively-inherited-lrba-mutations-cause-autoimmunity-presenting-as-neonatal-diabetes
#13
Matthew B Johnson, Elisa De Franco, Hana Lango-Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Irfan Ullah, Saif Alyaarubi, Daphne Gardner, Sian Ellard, Andrew T Hattersley, Sarah E Flanagan
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM; diagnosis <6 months).We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative syndrome and his unrelated, unaffected parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause Common Variable Immunodeficiency-8, however NDM has not been confirmed in this disorder...
May 4, 2017: Diabetes
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#14
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28464899/prevalence-of-hepatitis-b-and-c-infection-in-persons-living-with-hiv-enrolled-in-care-in-rwanda
#15
Justine Umutesi, Bryony Simmons, Jean D Makuza, Donatha Dushimiyimana, Aimable Mbituyumuremyi, Jean Marie Uwimana, Nathan Ford, Edward J Mills, Sabin Nsanzimana
BACKGROUND: Hepatitis B (HBV) and C (HCV) are important causes of morbidity and mortality in people living with human immunodeficiency virus (HIV). The burden of these co-infections in sub-Saharan Africa is still unclear. We estimated the prevalence of the hepatitis B surface antigen (HBsAg) and hepatitis C antibody (HCVAb) among HIV-infected individuals in Rwanda and identified factors associated with infection. METHODS: Between January 2016 and June 2016, we performed systematic screening for HBsAg and HCVAb among HIV-positive individuals enrolled at public and private HIV facilities across Rwanda...
May 2, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28460848/subcutaneous-abdominal-abscesses-in%C3%A2-a-patient-with-common-variable%C3%A2-immunodeficiency-receiving-subcutaneous-immunoglobulin-therapy
#16
Thatchai Kampitak, Stephen D Betschel
No abstract text is available yet for this article.
April 28, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28433201/humoral-primary-immunodeficiency-diseases-clinical-overview-and-chest-high-resolution-computed-tomography-hrct-features-in-the-adult-population
#17
REVIEW
L Cereser, R Girometti, P d'Angelo, M De Carli, A De Pellegrin, C Zuiani
Humoral primary immunodeficiency diseases (hPIDs) are a heterogeneous group of hereditary disorders resulting in abnormal susceptibility to infections of the sinopulmonary tract. Some of these conditions (e.g., common variable immunodeficiency disorders [CVID]) imply a number of non-infectious thoracic complications such as non-infectious airway disorders, diffuse lung parenchymal diseases, and neoplasms. Chest high-resolution computed tomography (HRCT) is a key imaging tool to characterise and quantify the extent of underlying thoracic involvement, as well as to direct and monitor treatment...
April 19, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28429103/resolution-of-primary-immune-defect-in-22q11-2-deletion-syndrome
#18
Yiwa Suksawat, Achara Sathienkijkanchai, Jittima Veskitkul, Orathai Jirapongsananuruk, Nualanong Visitsunthorn, Pakit Vichyanond, Punchama Pacharn
PURPOSE: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome. METHODS: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28422000/fibromyalgia-in-300-adult-index-patients-with-primary-immunodeficiency
#19
James C Barton, Luigi F Bertoli, Jackson C Barton, Ronald T Acton
OBJECTIVES: We sought to determine the prevalence and clinical and laboratory associations of fibromyalgia in adults with primary immunodeficiency (immunoglobulin (Ig) G subclass deficiency (IgGSD) and common variable immunodeficiency (CVID). METHODS: We performed a retrospective analysis of these observations in 300 non-Hispanic white adult index patients with recurrent/severe respiratory tract infections and IgGSD or CVID: age; sex; IgGSD; fibromyalgia; chronic fatigue; autoimmune conditions (ACs); interstitial cystitis (IC); diabetes; body mass index; serum Ig isotypes; blood lymphocytes and subsets; and human leukocyte antigen (HLA)-A and -B types and haplotypes...
April 19, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28411962/epidemiology-and-pathophysiology-of-malignancy-in-common-variable-immunodeficiency
#20
REVIEW
A Tak Manesh, G Azizi, A Heydari, F Kiaee, M Shaghaghi, N Hossein-Khannazer, R Yazdani, H Abolhassani, A Aghamohammadi
Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.5-20.7% and usually occurs during the 4th-6th decade of life. Non-Hodgkin lymphoma is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix...
April 12, 2017: Allergologia et Immunopathologia
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