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Common variable immunodeficiency in children

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https://www.readbyqxmd.com/read/29889099/dominant-negative-ikzf1-mutations-cause-a-t-b-and-myeloid-cell-combined-immunodeficiency
#1
David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, Vahid Asnafi, Philip Roehrs, Shaoying Chen, James W Verbsky, Katherine R Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleaseman, Amy P Hsu, Steven M Holland, Rebecca Marsh, Alain Fischer, Thomas A Fleisher, Capucine Picard, Sylvain Latour, Sergio D Rosenzweig
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. These mutations demonstrated incomplete penetrance and led to haploinsufficiency...
June 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29867916/evaluating-the-genetics-of-common-variable-immunodeficiency-monogenetic-model-and-beyond
#2
Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Eva González-Roca, Ana María Plaza-Martin, Ángela Deyà-Martínez, Andrea Martín-Nalda, Mónica Martínez-Gallo, Marina García-Prat, Lucía Del Pino-Molina, Ivón Cuscó, Marta Codina-Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Pere Soler-Palacín, Roger Colobran, Jordi Yagüe, Laia Alsina, Manel Juan, Ferran Casals
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. We have analyzed whole-exome sequencing and copy number variants data of 36 children and adolescents diagnosed with CVID and healthy relatives to estimate the proportion of monogenic cases...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29860881/-rheumatological-manifestations-in-primary-immunodeficiency-diseases
#3
Melinda Zsuzsanna Szabó
Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Monoarthritis or oligoarthritis is the usual pattern, caused by Mycoplasma, Staphylococcus, Streptococcus, Pneumococcus or Haemophilus species...
June 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29849668/evaluation-of-clinical-and-immunological-characteristics-of-children-with-common-variable-immunodeficiency
#4
Gülsüm Alkan, Sevgi Keles, İsmail Reisli
Background: Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. Objectives: This study aimed to promote the awareness of CVID, whose clinical spectrum is quite broad. Methods: The demographic, clinical, and laboratory characteristics of 12 children (seven males and five females) with CVID were analyzed retrospectively. The patients were diagnosed using the diagnostic criteria of the European Society for Primary Immunodeficiencies...
2018: International Journal of Pediatrics
https://www.readbyqxmd.com/read/29629663/the-effect-of-combination-antiretroviral-therapy-use-among-hiv-positive-children-on-the-hazard-of-aids-using-calendar-year-as-an-instrumental-variable
#5
Andrew Anglemyer, Amy Sturt, Yvonne Maldonado
BACKGROUND: Instrumental variable (IV) analyses are a common causal inference technique used in the absence of randomized data. Combination antiretroviral therapy (cART) was first introduced in 1996 and calendar periods have been used as a proxy for cART use. However, cART use misclassification can bias IV analyses. OBJECTIVE: We aim to highlight the differences in effects of antiretroviral therapy on clinical outcomes between applications of traditional and adapted IV analysis techniques...
April 9, 2018: Current HIV Research
https://www.readbyqxmd.com/read/29627765/scoliosis-in-association-with-the-22q11-2-deletion-syndrome-an-observational-study
#6
Jelle F Homans, Vyaas G M Baldew, Rob C Brink, Moyo C Kruyt, Tom P C Schlösser, Michiel L Houben, Vincent F X Deeney, Terrence B Crowley, René M Castelein, Donna M McDonald-McGinn
OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is characterised by wide phenotypic variability, including congenital heart disease (CHD), immunodeficiency and scoliosis. However, little is known regarding the prevalence and characteristics of scoliosis in patients with 22q11.2DS. The objective of this study is to assess the prevalence of scoliosis, its characteristics and the association with CHD in patients with 22q11.2DS...
April 7, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29614902/intravenous-immunoglobulin-ivig-efficiency-in-women-with-common-variable-immunodeficiency-cvid-decreases-significantly-during-pregnancy
#7
Makiko Egawa, Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio, Naoyuki Miyasaka
Immunoglobulin replacement therapy, including intravenous immunoglobulin (IVIG), is essential for pregnant women with common variable immunodeficiency (CVID) since it prevents infection and improves the health of the newborn. There are no established IVIG treatment protocols for pregnant women with CVID, and the relationship between IVIG treatment and maternal serum IgG changes during pregnancy remains unclear. Therefore, we reviewed the medical charts of four CVID patients, including one receiving subcutaneous immunoglobulin (SCIG), for IVIG dose and frequency, maternal serum IgG changes, obstetrical findings, and perinatal outcomes...
April 3, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29531467/phenotypic-and-genotypic-characterization-of-inflammatory-bowel-disease-in-children-under-six-years-of-age-in-china
#8
You-Hong Fang, You-You Luo, Jin-Dan Yu, Jin-Gan Lou, Jie Chen
AIM: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing...
March 7, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29453744/low-serum-ige-is-a-sensitive-and-specific-marker-for-common-variable-immunodeficiency-cvid
#9
Monica G Lawrence, Thamiris V Palacios-Kibler, Lisa J Workman, Alexander J Schuyler, John W Steinke, Spencer C Payne, Emily C McGowan, James Patrie, Ramsay L Fuleihan, Kathleen E Sullivan, Patricia L Lugar, Camellia L Hernandez, Douglas E Beakes, James W Verbsky, Thomas A E Platts-Mills, Charlotte Cunningham-Rundles, John M Routes, Larry Borish
Although small prior studies have suggested that IgE can be low in common variable immunodeficiency (CVID), the workup for patients with recurrent infections and suspected hypogammaglobulinemia does not include the routine measurement of serum IgE. We sought to test the hypothesis that low/undetectable serum IgE is characteristic of CVID by comparing the frequency of low/undetectable serum IgE in healthy controls and patients with CVID. We measured total serum IgE in a large multi-center cohort of patients with CVID (n = 354) and compared this to large population-based cohorts of children and adults...
April 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29201375/children-with-lymphadenitis-associated-with-bacillus-calmette-gu%C3%A3-rin-bcg-vaccination-do-not-experience-more-infections-when-compared-with-bcg-vaccinated-children-without-lymphadenitis-a-three-years-paired-cohort-in-mexico
#10
Enrique Chacon-Cruz, Jorge Luis Arellano-Estrada, Erika Lopatynsky-Reyes, Jorge Alvelais-Palacios, Chandra Becka
Objectives: Vaccination against tuberculosis with live-attenuated Bacillus Calmette-Guérin (BCG) is widely used even though its effectiveness is controversial. BCG-lymphadenitis (BCG-LA) is its most common complication. Some studies have proposed that BCG-LA can be associated with primary immunodeficiencies (PIs). This study's aim is to see whether patients who developed BCG-LA (named as 'LA') developed more infections than BCG-vaccinated children without BCG-LA (named as 'NON-LA'). Methods: From January 2009 to April 2014, 31 LA children were seen at the outpatient clinic of the General Hospital of Tijuana, Mexico...
August 2017: Therapeutic Advances in Vaccines
https://www.readbyqxmd.com/read/28937520/evans-syndrome-as-first-manifestation-of-primary-immunodeficiency-in-clinical-practice
#11
Libny Martínez-Valdez, Angela Deyà-Martínez, María T Giner, Rubén Berrueco, Ana Esteve-Solé, Manel Juan, Ana M Plaza-Martín, Laia Alsina
BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID)...
October 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28929596/hypogammaglobulinemia-in-children-a-warning-sign-to-look-deeply
#12
Karina Mescouto de Melo, Maria Isabel de Moraes-Pinto, Luís E C Andrade, Reinaldo Salomão, Milena K C Brunialti, Vanessa S Ferreira, Beatriz T Costa-Carvalho
This study investigated phenotypic and functional characteristics of lymphocytes in children with common variable immunodeficiency (CVID) and unclassified hypogammaglobulinemia (UH), as well as B-cell subsets in non-consanguineous parents. Blood samples of 30 children, CVID (n = 9), UH (n = 9), healthy donors HD (n = 12), and 19 adults (parents and controls) were labeled by a combination of surface markers to identify CD4, CD8 T-cell and B-cell subpopulations. T-cell cytokine production in children was analyzed in vitro after stimulation with phytohemagglutinin (PHA) and tetanus toxoid...
October 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28927200/epidemiology-of-invasive-fungal-disease-in-children
#13
REVIEW
Zoi Dorothea Pana, Emmanuel Roilides, Adilia Warris, Andreas H Groll, Theoklis Zaoutis
Considerable progress has been made in the prevention, diagnosis, and management of pediatric patients with invasive fungal disease (IFD). The reported decreasing trend in the incidence of invasive candidiasis (IC) over the past 15 years in both neonates and children has been encouraging. Nevertheless, due to the growing number of immunocompromised children at risk for IFD, this disease continues to be associated with significant morbidity and death and with increased financial burden to the health care system...
September 1, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28755066/two-sides-of-the-same-coin-pediatric-onset-and-adult-onset-common-variable-immune-deficiency
#14
Lauren A Sanchez, Solrun Melkorka Maggadottir, Matthew S Pantell, Patricia Lugar, Charlotte Cunningham Rundles, Kathleen E Sullivan
PURPOSE: Common variable immunodeficiency (CVID) is a complex, heterogeneous immunodeficiency characterized by hypogammaglobulinemia, recurrent infections, and poor antibody response to vaccination. While antibiotics and immunoglobulin prophylaxis have significantly reduced infectious complications, non-infectious complications of autoimmunity, inflammatory lung disease, enteropathy, and malignancy remain of great concern. Previous studies have suggested that CVID patients diagnosed in childhood are more severely affected by these complications than adults diagnosed later in life...
August 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28721392/the-response-to-typhi-vi-vaccination-is-compromised-in-individuals-with-primary-immunodeficiency
#15
Jeevani Kumarage, Suranjith L Seneviratne, Vijitha Senaratne, Amitha Fernando, Kirthi Gunasekera, Bandu Gunasena, Padmalal Gurugama, Sudath Peiris, Antony R Parker, Stephen Harding, Nilhan Rajiva de Silva
Measurement of an individuals ability to respond to polysaccharide antigens is a crucial test to determine adaptive immunity. Currently the response to Pneumovax(®) is utilized but with the success of Prevnar(®), measurement of the response to Pneumovax may be challenging. The aim of the study was to assess the response to Typhi Vi vaccination in both children and adult control groups and patients with primary immunodeficiency (PID). In the control groups, >95% of the individuals had pre Typhi Vi vaccination concentrations <100 U/mL and there was significant increase in concentration post Typhi Vi vaccination (p<0...
June 2017: Heliyon
https://www.readbyqxmd.com/read/28708268/screening-protocols-to-monitor-respiratory-status-in-primary-immunodeficiency-disease-findings-from-a-european-survey-and-subclinical-infection-working-group
#16
S Jolles, S Sánchez-Ramón, I Quinti, P Soler-Palacín, C Agostini, B Florkin, L-J Couderc, N Brodszki, A Jones, H Longhurst, K Warnatz, F Haerynck, A Matucci, E de Vries
Many patients with primary immunodeficiency (PID) who have antibody deficiency develop progressive lung disease due to underlying subclinical infection and inflammation. To understand how these patients are monitored we conducted a retrospective survey based on patient records of 13 PID centres across Europe, regarding the care of 1061 adult and 178 paediatric patients with PID on immunoglobulin (Ig) G replacement. The most common diagnosis was common variable immunodeficiency in adults (75%) and hypogammaglobulinaemia in children (39%)...
November 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28672090/efficacy-of-mycophenolate-on-lung-disease-and-autoimmunity-in-children-with-immunodeficiency
#17
Giorgia Bucciol, Angelamaria Petrone, Maria Caterina Putti
The autoimmune manifestations of primary immunodeficiencies, such as autoimmune lymphoproliferative syndrome (ALPS) and common variable immunodeficiency (CVID), often constitute a great therapeutic challenge and have a significant impact on patients' morbidity and mortality. The most common autoimmune presentations are autoimmune cytopenias, but organ-related autoimmunity is also frequently observed. From a pulmonology perspective, granulomatous/lymphocytic interstitial lung disease (GLILD) is a severe immunological complication which significantly worsens the clinical outcome of these patients and for which there are currently few guidelines or protocols for treatment...
October 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28540525/identification-of-22q11-2-deletion-syndrome-via-newborn-screening-for-severe-combined-immunodeficiency
#18
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...
July 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28512785/clinical-immunologic-molecular-analyses-and-outcomes-of-iranian-patients-with-lrba-deficiency-a-longitudinal-study
#19
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...
August 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#20
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disorder in which children present with symptomatic adrenocorticotropic hormone (ACTH) deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, called common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as a cause of DAVID syndrome or of CVID without clinical hypopituitarism...
July 1, 2017: Journal of Clinical Endocrinology and Metabolism
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