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Common variable immunodeficiency in children

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https://www.readbyqxmd.com/read/27884168/ataxia-telangiectasia-a-review
#1
REVIEW
Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A Lefton-Greif, Sharon A McGrath-Morrow, Thomas O Crawford, Howard M Lederman
DEFINITION OF THE DISEASE: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY: The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages...
November 25, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27705887/annals-express-chitotriosidase-enzyme-activity-is-this-a-possible-chronic-inflammation-marker-in-children-with-common-variable-immunodeficiency-and-early-atherosclerosis
#2
Elif Azarsız, Neslihan Karaca, Erturk Levent, Necil Kutukculer, Eser Sozmen
BACKGROUND: Common variable immunodeficiency (CVID) is a rare clinically symptomatic primary immunodeficiency disorder which manifests a wide variability of symptoms, complications. Atherosclerosis in CVID patients have not been investigated yet contrary to other severe clinical complications. We aimed to investigate the chitotriosidase enzyme's role as an inflammation and atherosclerosis marker in pediatric CVID patients. METHODS: CVID patients (n =24) and healthy controls (n = 23) evaluated for chitotriosidase activity with other inflammation markers (hsCRP, myeloperoxidase, serum amyloid A, ferritin), lipid profile and echocardiographic findings (carotid artery intima media thickness - cIMT, brachial artery flow-mediated vazodilatation - FMD%)...
October 4, 2016: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/27703456/cancers-related-to-immunodeficiencies-update-and-perspectives
#3
Esmaeil Mortaz, Payam Tabarsi, Davod Mansouri, Adnan Khosravi, Johan Garssen, Aliakbar Velayati, Ian M Adcock
The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with posttransplantation immune dysfunction, with immunosuppressive medication for human immunodeficiency virus or with human T-cell lymphotropic virus infection. After infection, malignancy is the most prevalent cause of death in both children and adults with (PIDs)...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27636936/-pulmonary-manifestations-in-adult-patients-with-a-defect-in-humoral-immunity
#4
T V Latysheva, E A Latysheva, I A Martynova, G E Aminova
Primary immunodeficiencies (PIDs) are a group of congenital diseases of the immune system, which numbers more than 230 nosological entities associated with lost, decreased, or wrong function of its one or several components. Due to the common misconception that these are extremely rare diseases that occur only in children and lead to their death at an early age, PIDs are frequently ruled out by physicians of related specialties from the range of differential diagnosis. The most common forms of PIDs, such as humoral immunity defects, common variable immune deficiency, X-linked agammaglobulinemia, selective IgA deficiency, etc...
2016: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/27544362/important-factors-influencing-severity-of-common-variable-immunodeficiency
#5
Mahisa Mokhtari, Alireza Shakeri, Babak Mirminachi, Hassan Abolhassani, Reza Yazdani, Bodo Grimbacher, Asghar Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is a primary immune deficiency with heterogeneous complications. The purpose of this study is to determine disease severity in a cohort of CVID patients based on the suggested scoring system and investigate predisposing factors which would be helpful to predict the severity of the disease. METHODS: The study population comprised 113 CVID patients (69 males and 44 females) who were visited at Children's Medical Center (Pediatrics Center of Excellence affiliated to Tehran University of Medical Sciences, Tehran, Iran) during the last 30 years (from 1984-2014)...
August 2016: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/27461226/the-b-cell-compartment-in-antibody-deficient-infants-and-young-children-developing-common-variable-immunodeficiency-or-transient-immune-maturation
#6
Aleksandra Szczawinska-Poplonyk, Katarzyna Tapolska-Jozwiak, Husam Samara
BACKGROUND: Hypogammaglobulinemia in early childhood is a common feature characterized by distinct intrinsic and extrinsic factors leading to disturbed peripheral blood lymphocyte homeostasis. Detailed flow cytometric immunophenotyping of the peripheral blood B cell compartment is an informative tool for delineating disturbed generation of B cell subpopulations crucial for the diagnosis of hypogammaglobulinemia in young children. METHODS: We analyzed by flow cytometry the proportions and absolute values of total, naïve, memory - non-switched and switched, transitional and immature B lymph cells as well as plasmablasts in the peripheral blood of 50 hypogammaglobulinemic children aged from 3 to 50 months...
2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27374647/ataxia-telangiectasia-in-the-south-of-tunisia-a-study-of-11-cases
#7
Lamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, Catherine Dubois D'enghien, Thouraya Kamoun, Mohamed Ridha Barbouch, Mongia Hachicha
BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. AIM: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features...
August 2015: La Tunisie Médicale
https://www.readbyqxmd.com/read/27357411/comprehensive-activities-to-increase-recognition-of-primary-immunodeficiency-and-access-to-immunoglobulin-replacement-therapy-in-poland
#8
Małgorzata Pac, Ewa Bernatowska
UNLABELLED: The study presents an overview on current situation of primary immunodeficiency (PID) patients in Poland and the 2014 annual report of the Polish Working Group for Immunodeficiency (PWGID). The group was set up in 2005 to improve diagnosis, treatment, and care of patients with immunodeficiencies and currently includes 15 pediatric and 13 adult centers. According to PWGID report 4099, PID patients are recognized in Poland, with the prevalence 10.6/100,000. The majority of them (54...
August 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27276370/common-variable-immunodeficiency-immune-thrombocytopenia-rituximab-and-splenectomy-important-considerations
#9
Ruta Arays, Sahil Goyal, Kim M Jordan
Common variable immunodeficiency (CVID) is readily considered in patients presenting with recurrent sino-pulmonary infections, however this disease has a broad range of clinical manifestations and diagnosis can be delayed by several years. We present the case of a 44-year-old postpartum female who presented with nausea, vomiting and abdominal distension. Four years prior, she was hospitalized for treatment of immune thrombocytopenia (ITP) with splenectomy and rituximab followed by two episodes of bacterial meningitis despite immunizations...
August 2016: Postgraduate Medicine
https://www.readbyqxmd.com/read/27143082/-primary-hypogammaglobulinemia-complicated-with-liver-cirrhosis-and-literature-review
#10
Z H Deng, L R Jiang, B Zhang, Y Z Xu, C H Shen, T Zhou, Q Xia, T A Zhang
OBJECTIVE: To explore the pathogenesis, treatment and prognosis of primary hypogammaglobulinemia complicated with liver cirrhosis in a child. METHOD: Pathogenesis, treatment and prognosis of X-linked agammaglobulinemia (XLA ) complicated with liver cirrhosis in a child were analyzed in Shanghai Children's Medical Center.Using"primary hypogammaglobulinemia"and"liver cirrhosis"as keywords, literatures were searched from Pubmed and Chinese data of Weipu and Wanfang data from January 1988 to January 2015...
May 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/26976550/a-comparison-of-b-cell-subsets-in-primary-immune-deficiencies-that-progress-with-antibody-deficiency-and-age-matched-healthy-children
#11
M H Celiksoy, A Yildiran
BACKGROUND: The objective of this study was to examine the B lymphocyte subsets in primary immunodeficiency that progress with antibody deficiency. METHODS: The patients' naive, memory, class-switched memory and non-switched memory B cells were compared with those of healthy individuals of matching ages using flow cytometry. RESULTS: A total of 67 patients with antibody deficiency and 28 healthy children of matching ages were included in the study...
July 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/26941803/t-cell-receptor-phenotype-pattern-in-atopic-children-using-commercial-fluorescently-labeled-antibodies-against-21-human-class-specific-v-segments-for-the-tcr%C3%AE-chain-v%C3%AE-of-peripheral-blood-a-cross-sectional-study
#12
Gassem Gohal, Christine McCusker, Bruce Mazer, Reza Alizadehfar, Duncan Lejtenyi, Moshe Ben-Shoshan
BACKGROUND: T-cell receptor (TCR) repertoire development is an integral part of the adaptive immune response. T-cell activation requires recognition of appropriately processed antigens by the TCR. Development of a diverse repertoire of TCRs is therefore essential to ensure adequate protection from potential threats. The majority of T-cells in peripheral blood have TCRs composed of an alpha and a beta chain. At the DNA level, the TCR genes are formed through directed recombination from germline sequences-the so-called VDJ recombination [variable (V) joining (J) diversity (D) gene segments] which results in variations in the repertoire...
2016: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/26925716/autoimmune-hemolytic-anemia-in-children-mayo-clinic-experience
#13
Janani Sankaran, Vilmarie Rodriguez, Eapen K Jacob, Justin D Kreuter, Ronald S Go
We studied 35 pediatric patients with autoimmune hemolytic anemia seen at Mayo Clinic from 1994 to 2014. The median age was 10.0 years and 65.7% were males. Most had warm antibodies (80.0%) and some secondary to viral (14.3%) or autoimmune disorders (31.4%). Seven (20.0%) patients presented with Evans syndrome, 3 of whom also had common variable immunodeficiency. The median hemoglobin at diagnosis was 6.1 g/dL and 62.8% patients required red cell transfusions. The severity of anemia was worse among children below 10 years (median 5...
April 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/26922074/deficiency-of-adenosine-deaminase-2-causes-antibody-deficiency
#14
Johanna Schepp, Alla Bulashevska, Wilma Mannhardt-Laakmann, Hongzhi Cao, Fang Yang, Maximilian Seidl, Susan Kelly, Michael Hershfield, Bodo Grimbacher
PURPOSE: Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child. METHODS: Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing. Dried plasma spots of the male patient and his mother were analyzed for ADA2 enzymatic activity. RESULTS: Following data analysis of WES, we found a compound heterozygous mutation in CECR1 (encoding adenosine deaminase 2, ADA2) that segregated in the two affected children...
April 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/26897303/risk-factors-and-clinical-significance-of-lymphopenia-in-survivors-of-the-fontan-procedure-for-single-ventricle-congenital-cardiac-disease
#15
Megan M Morsheimer, Jack Rychik, Lisa Forbes, Kathryn Dodds, David J Goldberg, Kathleen Sullivan, Jennifer R Heimall
BACKGROUND: Congenital cardiac anomalies are associated with immunologic perturbations. Surgical thymectomy, thoracic duct manipulation, and protein- losing enteropathy (PLE), a condition related to stressed Fontan hemodynamics, presumably contribute to low peripheral absolute lymphocyte counts (ALCs) and quantitative immunoglobulins. Clinical significance of lymphopenia and hypogammaglobulinemia in single-ventricle survivors requires additional study. OBJECTIVE: Although immunologic laboratory anomalies are common in this population, we hypothesize that clinically significant immunodeficiency requiring intervention is rarely required...
May 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/26868026/common-variable-immunodeficiency
#16
REVIEW
Biman Saikia, Sudhir Gupta
Common variable immunodeficiency (CVID) is the most common primary immunodeficiency of young adolescents and adults which also affects the children. The disease remains largely under-diagnosed in India and Southeast Asian countries. Although in majority of cases it is sporadic, disease may be inherited in a autosomal recessive pattern and rarely, in autosomal dominant pattern. Patients, in addition to frequent sino-pulmonary infections, are also susceptible to various autoimmune diseases and malignancy, predominantly lymphoma and leukemia...
April 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/26831679/respiratory-manifestations-and-management-in-children-with-common-variable-immunodeficiency
#17
REVIEW
Chetan Pandit, Peter Hsu, Peter van Asperen, Sam Mehr
Common variable immunodeficiency is an antibody deficiency that usually presents in childhood with recurrent sino-pulmonary infections. Diagnostic delay is frequent and thus respiratory morbidity is common, ranging from recurrent suppurative bronchitis to bronchiectasis. Immunoglobulin replacement therapy is the mainstay of treatment, whilst prophylactic antibiotic therapy and muco-ciliary clearance are additional treatment options. This review examines the diagnosis and management of respiratory issues in children with CVID...
June 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/26815515/ataxia-telangiectasia-in-the-south-of-tunisia-a-study-of-11-cases
#18
Lamia Sfaihi, Dominique Stoppa Lyonnet, Salma Ben Ameur, Catherine Dubois D'enghien, Thouraya Kamoun, Mohamed Ridha Barbouch, Mongia Hachicha
BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. AIM: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia Methods: we performed a retrospective study (1996-2012) in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features...
August 2015: La Tunisie Médicale
https://www.readbyqxmd.com/read/26684629/cd4-cd25-foxp3-t-regulatory-cells-th1-ccr5-il-2-ifn-%C3%AE-and-th2-ccr4-il-4-il-13-type-chemokine-receptors-and-intracellular-cytokines-in-children-with-common-variable-immunodeficiency
#19
Necil Kutukculer, Elif Azarsiz, Guzide Aksu, Neslihan Edeer Karaca
Common variable immunodeficiency (CVID) is a heterogeneous group of primary antibody deficiencies characterized by decreased serum immunoglobulin G along with a decrease in serum IgA and/or IgM, defective specific antibody production, and recurrent bacterial infections. Abnormal lymphocyte trafficking, dysregulated cellular responses to chemokines, and uncontrolled T cell polarization may be involved in the pathogenesis and may help to understand the clinical complications. We evaluated T helper cell subsets (chemokine receptors CCR4, CCR5, and CCR7), expressions on T lymphocytes, intracellular cytokines - IL-2, IL-4, IL-13, IFN- γ-on CD4(+) T cells, and expression of CD4(+)CD25(+)Foxp3(+) regulatory T cells of 20 CVID patients and 26 healthy controls...
June 2016: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/26461272/the-incidence-and-prevalence-of-common-variable-immunodeficiency-disease-in-taiwan-a-population-based-study
#20
Chih-Wei Tseng, Kuo-Lung Lai, Der-Yuan Chen, Ching-Heng Lin, Hsin-Hua Chen
Common variable immunodeficiency (CVID) is one of the primary immunodeficiency diseases that occur in both children and adults. We present here a nationwide, population-based epidemiological study of CVID across all ages in Taiwan during 2002-2011. Using the International Classification of Diseases, Ninth Revision code 279.06, cases of CVID were identified from Taiwan's National Health Insurance Research Database from January 2002 to December 2011. Age- and sex-specific incidence and prevalence rates were calculated...
2015: PloS One
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