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  1 / 1614 MEDLINE  
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[PMID]:29484746
[Au] Autor:Hauge SC; Jensen CK; Nielsen LK; Pedersen OB; Sørensen E; Thørner LW; Hjalgrim H; Erikstrup C; Nielsen KR; Kaspersen KA; Didriksen M; Dziegiel M; Ullum H
[Ad] Endereço:Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
[Ti] Título:The association of IgA deficiency on infection rate, self-perceived health, and levels of C-reactive protein in healthy blood donors.
[So] Source:APMIS;126(3):248-256, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:The clinical importance of immunoglobulin A (IgA) deficiency in otherwise healthy individuals is not well described. We aimed to investigate the self-reported mental and physical health and the risk of infection in IgA-deficient blood donors compared to healthy control blood donors. Infectious events, recorded in public health registries either as prescriptions filled of any antimicrobial medicine or as hospital infections, were compared between 177 IgA-deficient blood donors and 1770 control blood donors. A subset of the IgA-deficient donors were further characterized by self-reported health (Short Form-12, n = 28) and circulating C-reactive protein (CRP) (n = 10). IgA-deficient individuals had lower self-reported mental health (p = 0.01) and higher CRP (p < 0.05). A strong trend was found regarding prescription of antimicrobial medicine (hazard ratio = 1.19, p = 0.05). No association was found with hospital infections (hazard ratio = 1.02, p = 0.95) or self-reported physical health (p = 0.86). IgA-deficient blood donors have impaired self-reported mental health, enhanced inflammation and possibly an increased risk of infection. Despite these findings, this study does not provide sufficient evidence to warrant specific health precautions for donors with IgA deficiency.
[Mh] Termos MeSH primário: Proteína C-Reativa/metabolismo
Autoavaliação Diagnóstica
Predisposição Genética para Doença
Deficiência de IgA/imunologia
Imunoglobulina A/imunologia
Infecção/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Doadores de Sangue
Dinamarca/epidemiologia
Feminino
Seres Humanos
Deficiência de IgA/genética
Imunoglobulina A/genética
Infecção/imunologia
Masculino
Meia-Idade
Risco
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulin A); 9007-41-4 (C-Reactive Protein)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180228
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12807


  2 / 1614 MEDLINE  
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[PMID]:27776452
[Au] Autor:Vo Ngoc DT; Krist L; van Overveld FJ; Rijkers GT
[Ad] Endereço:a Department of Science , University College Roosevelt , Middelburg , The Netherlands.
[Ti] Título:The long and winding road to IgA deficiency: causes and consequences.
[So] Source:Expert Rev Clin Immunol;13(4):371-382, 2017 04.
[Is] ISSN:1744-8409
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: The most common humoral immunodeficiency is IgA deficiency. One of the first papers addressing the cellular and molecular mechanisms underlying IgA deficiency indicated that immature IgA-positive B-lymphocytes are present in these patients. This suggests that the genetic background for IgA is still intact and that class switching can take place. At this moment, it cannot be ruled out that genetic as well as environmental factors are involved. Areas covered: A clinical presentation, the biological functions of IgA, and the management of IgA deficiency are reviewed. In some IgA deficient patients, a relationship with a loss-of-function mutation in the TACI (transmembrane activator and calcium-modulating cyclophilin ligand interaction) gene has been found. Many other genes also have been associated. Gut microbiota are an important environmental trigger for IgA synthesis. Expert commentary: Expression of IgA deficiency is due to both genetic and environmental factors and a role for gut microbiota cannot be excluded.
[Mh] Termos MeSH primário: Linfócitos B/fisiologia
Deficiência de IgA/imunologia
Imunidade nas Mucosas
Imunoglobulina A/metabolismo
Microbiota/imunologia
Células Precursoras de Linfócitos B/fisiologia
Proteína Transmembrana Ativadora e Interagente do CAML/genética
[Mh] Termos MeSH secundário: Animais
Fator Ativador de Células B/genética
Interação Gene-Ambiente
Predisposição Genética para Doença
Seres Humanos
Deficiência de IgA/etiologia
Switching de Imunoglobulina
Polimorfismo Genético
Membro 13 da Superfamília de Ligantes de Fatores de Necrose Tumoral/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (B-Cell Activating Factor); 0 (Immunoglobulin A); 0 (TNFRSF13B protein, human); 0 (Transmembrane Activator and CAML Interactor Protein); 0 (Tumor Necrosis Factor Ligand Superfamily Member 13)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1080/1744666X.2017.1248410


  3 / 1614 MEDLINE  
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[PMID]:28539431
[Au] Autor:Zhao Q; Harbour SN; Kolde R; Latorre IJ; Tun HM; Schoeb TR; Turner H; Moon JJ; Khafipour E; Xavier RJ; Weaver CT; Elson CO
[Ad] Endereço:Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294.
[Ti] Título:Selective Induction of Homeostatic Th17 Cells in the Murine Intestine by Cholera Toxin Interacting with the Microbiota.
[So] Source:J Immunol;199(1):312-322, 2017 Jul 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Th17 cells play a role as an inflammation mediator in a variety of autoimmune disorders, including inflammatory bowel disease, and thus are widely considered to be pathogenic. However, Th17 cells are present in the normal intestine and show a homeostatic phenotype; that is, they participate in the maintenance of intestinal homeostasis rather than inducing inflammation. We observed an enlarged Th17 population in the small intestine of C57BL/6.IgA mice compared with wild-type mice, which was further amplified with cholera toxin (CT) immunization without causing intestinal inflammation. The increased Th17 induction and the correspondingly 10-fold higher CT B subunit-specific serum IgG response in IgA mice after CT immunization was microbiota dependent and was associated with increased segmented filamentous bacteria in the small intestine of IgA mice. Oral administration of vancomycin greatly dampened both CT immunogenicity and adjuvanticity, and the differential CT responses in IgA and wild-type mice disappeared after intestinal microbiota equalization. Using gnotobiotic mouse models, we found that CT induction of homeostatic intestinal Th17 responses was supported not only by segmented filamentous bacteria, but also by other commensal bacteria. Furthermore, transcriptome analysis using IL-17A reporter mice revealed a similar gene expression profile in CT-induced intestinal Th17 cells and endogenous intestinal Th17 cells at homeostasis, with upregulated expression of a panel of immune-regulatory genes, which was distinctly different from the gene expression profile of pathogenic Th17 cells. Taken together, we identified a nonpathogenic signature of intestinal homeostatic Th17 cells, which are actively regulated by the commensal microbiota and can be selectively stimulated by CT.
[Mh] Termos MeSH primário: Toxina da Cólera/imunologia
Microbioma Gastrointestinal/imunologia
Homeostase
Mucosa Intestinal/imunologia
Intestino Delgado/imunologia
Células Th17/imunologia
[Mh] Termos MeSH secundário: Animais
Toxina da Cólera/administração & dosagem
Microbioma Gastrointestinal/fisiologia
Perfilação da Expressão Gênica
Vida Livre de Germes
Deficiência de IgA/imunologia
Imunoglobulina A/imunologia
Doenças Inflamatórias Intestinais
Mucosa Intestinal/microbiologia
Intestino Delgado/microbiologia
Camundongos
Camundongos Endogâmicos C57BL
Vancomicina/administração & dosagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulin A); 6Q205EH1VU (Vancomycin); 9012-63-9 (Cholera Toxin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1700171


  4 / 1614 MEDLINE  
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[PMID]:28126470
[Au] Autor:van Os NJH; Jansen AFM; van Deuren M; Haraldsson A; van Driel NTM; Etzioni A; van der Flier M; Haaxma CA; Morio T; Rawat A; Schoenaker MHD; Soresina A; Taylor AMR; van de Warrenburg BPC; Weemaes CMR; Roeleveld N; Willemsen MAAP
[Ad] Endereço:Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: nienke.vanos@radboudumc.nl.
[Ti] Título:Ataxia-telangiectasia: Immunodeficiency and survival.
[So] Source:Clin Immunol;178:45-55, 2017 May.
[Is] ISSN:1521-7035
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory diseases dramatically reduce life expectancy. To better counsel families, develop individual follow-up programs, and select patients for therapeutic trials, more knowledge is needed on factors influencing survival. This retrospective cohort study of 61 AT patients shows that classical AT patients had a shorter survival than variant patients (HR 5.9, 95%CI 2.0-17.7), especially once a malignancy was diagnosed (HR 2.5, 95%CI 1.1-5.5, compared to classical AT patients without malignancy). Patients with the hyper IgM phenotype with hypogammaglobulinemia (AT-HIGM) and patients with an IgG deficiency showed decreased survival compared to patients with normal IgG (HR 9.2, 95%CI 3.2-26.5) and patients with normal IgG levels (HR 7.8, 95%CI 1.7-36.2), respectively. If high risk treatment trials will become available for AT, those patients with factors indicating the poorest prognosis might be considered for inclusion first.
[Mh] Termos MeSH primário: Agamaglobulinemia/imunologia
Ataxia Telangiectasia/imunologia
Síndrome de Imunodeficiência com Hiper-IgM/imunologia
Imunoglobulina G/imunologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Agamaglobulinemia/complicações
Ataxia Telangiectasia/complicações
Ataxia Telangiectasia/genética
Ataxia Telangiectasia/mortalidade
Proteínas Mutadas de Ataxia Telangiectasia/genética
Causas de Morte
Criança
Estudos de Coortes
Feminino
Seres Humanos
Síndrome de Imunodeficiência com Hiper-IgM/complicações
Deficiência de IgA/complicações
Deficiência de IgA/imunologia
Síndromes de Imunodeficiência/complicações
Síndromes de Imunodeficiência/imunologia
Expectativa de Vida
Masculino
Meia-Idade
Mutação
Neoplasias/etiologia
Neoplasias/genética
Razão de Chances
Fenótipo
Modelos de Riscos Proporcionais
Estudos Retrospectivos
Taxa de Sobrevida
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulin G); EC 2.7.11.1 (ATM protein, human); EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170814
[Lr] Data última revisão:
170814
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170128
[St] Status:MEDLINE


  5 / 1614 MEDLINE  
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[PMID]:28052804
[Au] Autor:Magen E; Masalha A; Waitman DA; Kahan N; Viner I; Klassov L; Vardy D
[Ti] Título:Prevalence of dermatologic diseases among patients with selective immunoglobulin A deficiency.
[So] Source:Allergy Asthma Proc;38(1):70-77, 2017 Jan 01.
[Is] ISSN:1539-6304
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: There are no published large-scale epidemiologic studies regarding the prevalence of skin diseases in patients with selective immunoglobulin A (IgA) deficiency (sIgAD). The purpose of this study was to investigate the prevalence of dermatological diseases in patients with sIgAD. METHODS: This retrospective matched case-control study was based on data from the Leumit Healthcare Services data base (approximately 725,000 residents of Israel), which was searched for all subjects aged ≥12 years who had undergone serum total IgA measurements during 2004-14 for any reason. The case group included subjects with sIgAD. The control A group was randomly sampled from those subjects in whom an IgA was drawn (n ≈ 725,000), with a ratio of 10 controls for every case (1:10). The control A group was randomly sampled from those subjects in whom an IgA was drawn (n = 104,729) and the control B group was randomly sampled from the full study population (n ≈ 725,000), with a ratio of 10 controls for every case (1:10). Comorbidity was compared between the study groups. RESULTS: The sIgAD group was characterized: 1) By a higher prevalence of atopic dermatitis (AD) (16 [4.6 %]) than the control A group (76 [2.1 %]; p = 0.004 and the control B group (64 [1.9 %]; p = 0.002). 2) By higher prevalence of acne (69 [19.9 %]) than the control A group (516 [13.8 %]; p = 0.013) and control B group (494 [14.2 %]; p < 0.001). 3) By higher rate of chronic spontaneous urticaria (CSU) (17 [4.9 %)] than in the control A group (31 [0.9 %], with odds ratio 5.54 [3.04-10.13]; p < 0.001) and the control B group (28 [0.8 %]; p < 0.001). CONCLUSIONS: sIgAD is characterized by a higher prevalence of AD, CSU and acne.
[Mh] Termos MeSH primário: Deficiência de IgA/complicações
Deficiência de IgA/epidemiologia
Dermatopatias/epidemiologia
Dermatopatias/etiologia
[Mh] Termos MeSH secundário: Biomarcadores
Estudos de Casos e Controles
Comorbidade
Feminino
Seres Humanos
Deficiência de IgA/diagnóstico
Isotipos de Imunoglobulinas/sangue
Isotipos de Imunoglobulinas/imunologia
Israel/epidemiologia
Masculino
Fenótipo
Vigilância da População
Prevalência
Estudos Retrospectivos
Dermatopatias/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Immunoglobulin Isotypes)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE
[do] DOI:10.2500/aap.2017.38.4018


  6 / 1614 MEDLINE  
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[PMID]:27911098
[Au] Autor:Polosukhin VV; Richmond BW; Du RH; Cates JM; Wu P; Nian H; Massion PP; Ware LB; Lee JW; Kononov AV; Lawson WE; Blackwell TS
[Ad] Endereço:1 Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, and.
[Ti] Título:Secretory IgA Deficiency in Individual Small Airways Is Associated with Persistent Inflammation and Remodeling.
[So] Source:Am J Respir Crit Care Med;195(8):1010-1021, 2017 Apr 15.
[Is] ISSN:1535-4970
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Maintenance of a surface immune barrier is important for homeostasis in organs with mucosal surfaces that interface with the external environment; however, the role of the mucosal immune system in chronic lung diseases is incompletely understood. OBJECTIVES: We examined the relationship between secretory IgA (SIgA) on the mucosal surface of small airways and parameters of inflammation and airway wall remodeling in chronic obstructive pulmonary disease (COPD). METHODS: We studied 1,104 small airways (<2 mm in diameter) from 50 former smokers with COPD and 39 control subjects. Small airways were identified on serial tissue sections and examined for epithelial morphology, SIgA, bacterial DNA, nuclear factor-κB activation, neutrophil and macrophage infiltration, and airway wall thickness. MEASUREMENTS AND MAIN RESULTS: Morphometric evaluation of small airways revealed increased mean airway wall thickness and inflammatory cell counts in lungs from patients with COPD compared with control subjects, whereas SIgA level on the mucosal surface was decreased. However, when small airways were classified as SIgA intact or SIgA deficient, we found that pathologic changes were localized almost exclusively to SIgA-deficient airways, regardless of study group. SIgA-deficient airways were characterized by (1) abnormal epithelial morphology, (2) invasion of bacteria across the apical epithelial barrier, (3) nuclear factor-κB activation, (4) accumulation of macrophages and neutrophils, and (5) fibrotic remodeling of the airway wall. CONCLUSIONS: Our findings support the concept that localized, acquired SIgA deficiency in individual small airways of patients with COPD allows colonizing bacteria to cross the epithelial barrier and drive persistent inflammation and airway wall remodeling, even after smoking cessation.
[Mh] Termos MeSH primário: Remodelação das Vias Aéreas/fisiologia
Deficiência de IgA/complicações
Deficiência de IgA/fisiopatologia
Inflamação/complicações
Inflamação/fisiopatologia
Pulmão/fisiopatologia
[Mh] Termos MeSH secundário: Idoso
Doença Crônica
Feminino
Seres Humanos
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170518
[Lr] Data última revisão:
170518
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161203
[St] Status:MEDLINE
[do] DOI:10.1164/rccm.201604-0759OC


  7 / 1614 MEDLINE  
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[PMID]:27763681
[Au] Autor:Yazdani R; Azizi G; Abolhassani H; Aghamohammadi A
[Ad] Endereço:Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
[Ti] Título:Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
[So] Source:Scand J Immunol;85(1):3-12, 2017 Jan.
[Is] ISSN:1365-3083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients suffer from different clinical complications such as pulmonary infections, allergies, autoimmune diseases, gastrointestinal disorders and malignancy. Pathogenesis of SIgAD is still unknown; however, a defective terminal differentiation of B cells and defect in switching to IgA-producing plasma cells are presumed to be responsible. Furthermore, some cytogenic defects and monogenic mutations are associated with SIgAD. There is no specific treatment for patients with symptomatic IgA deficiency, although prophylactic antibiotic therapy along with circumstantial immunoglobulin replacement with justification and supportive care (using a product that contains minimal IgA) could be helpful for patients with a severe phenotype. The epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis, management and treatment in patients with SIgAD have been reviewed.
[Mh] Termos MeSH primário: Linfócitos B/imunologia
Deficiência de IgA
[Mh] Termos MeSH secundário: Animais
Antibioticoprofilaxia
Diferenciação Celular
Grupos Étnicos
Seres Humanos
Deficiência de IgA/diagnóstico
Deficiência de IgA/epidemiologia
Deficiência de IgA/genética
Deficiência de IgA/terapia
Imunidade/genética
Incidência
Mutação
Fenótipo
Prevalência
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170315
[Lr] Data última revisão:
170315
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1111/sji.12499


  8 / 1614 MEDLINE  
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[PMID]:27412077
[Au] Autor:Williams SJ; Gupta S
[Ad] Endereço:Division of Basic and Clinical Immunology, University of California Irvine, Irvine, CA, USA. swillia3@uci.edu.
[Ti] Título:Anaphylaxis to IVIG.
[So] Source:Arch Immunol Ther Exp (Warsz);65(1):11-19, 2017 Feb.
[Is] ISSN:1661-4917
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Anaphylactic reactions are a known complication in some IgA-deficient patients receiving blood or plasma transfusions. It is of particular interest that anaphylaxis has been observed in patients with common variable immunodeficiency (CVID) who are receiving intravenous gammaglobulin (IVIG), and in that, although these patients have an impaired response to common vaccines, they retain the ability to produce autoantibodies. In this study, we review IgA antibodies (both IgG- and IgE-mediated reactions) in patients with CVID and hypogammaglobulinemia, anaphylaxis in antibody immunodeficient patients receiving IVIG, and proposed mechanisms of desensitization and prevention of anaphylactic reactions in immunodeficient patients receiving IVIG. We summarize and assess the 23 case reports documented in the literature that have described anaphylactic reactions in immunodeficient patients receiving IVIG since 1962 until currently, and make a comparison of their immunoglobulin levels, IgG anti-IgA, IgE anti-IgA, concentration of IVIG, IgA content in IVIG, method used to detect antibodies, length of treatment, and any subsequent tolerated treatment documented.
[Mh] Termos MeSH primário: Anafilaxia/induzido quimicamente
Imunoglobulinas Intravenosas/efeitos adversos
[Mh] Termos MeSH secundário: Agamaglobulinemia/imunologia
Anafilaxia/imunologia
Anticorpos Anti-Idiotípicos/sangue
Autoanticorpos/imunologia
Feminino
Seres Humanos
Deficiência de IgA/imunologia
Imunoglobulina E/sangue
Imunoglobulina G/sangue
Síndromes de Imunodeficiência/imunologia
Masculino
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Anti-Idiotypic); 0 (Autoantibodies); 0 (Immunoglobulin G); 0 (Immunoglobulins, Intravenous); 0 (anti-IgA); 0 (anti-IgE antibodies); 0 (anti-IgG); 37341-29-0 (Immunoglobulin E)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170307
[Lr] Data última revisão:
170307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160715
[St] Status:MEDLINE
[do] DOI:10.1007/s00005-016-0410-1


  9 / 1614 MEDLINE  
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[PMID]:28329776
[Au] Autor:Hogendorf A; Pietrzak I; Antosik K; Borowiec M; Mlynarski W
[Ad] Endereço:Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, These authors equally contributed to this work.
[Ti] Título:Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.
[Ti] Título:Alkaptonuria u chlopca z cukrzyca typu 1, bielactwem, autoimmunologicznym zapaleniem tarczycy i niedoborem immunoglobuliny A..
[So] Source:Pediatr Endocrinol Diabetes Metab;22(2):71-75, 2016.
[Is] ISSN:2083-8441
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:We present a 15-year-old Caucasian boy with an exceptional coincidence of a rare monogenic metabolic disease - alkaptonuria (AKU) and a cluster of autoimmune disorders: type 1 diabetes (T1DM), autoimmune thyroiditis (AIT), vitiligo, insulin infusion induced lipoatrophy and immunoglobulin A deficiency (IgAD) Alkaptonuria and type 1 diabetes in a child, especially in such an interesting coincidence with other autoimmune conditions, has not been reported so far. Our investigation, including comprehensive genetic evaluation using next generation sequencing technology, shows that alkaptonuria and T1DM were independently inherited. We also show that alkaptonuria in its pre-ochronotic phase seems to have no effect on the course of diabetes.
[Mh] Termos MeSH primário: Alcaptonúria/etiologia
Diabetes Mellitus Tipo 1/complicações
Deficiência de IgA/etiologia
Tireoidite Autoimune/etiologia
Vitiligo/etiologia
[Mh] Termos MeSH secundário: Adolescente
Alcaptonúria/terapia
Seres Humanos
Masculino
Tireoidite Autoimune/terapia
Resultado do Tratamento
Vitiligo/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.18544/PEDM-22.02.0054


  10 / 1614 MEDLINE  
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[PMID]:27920422
[Au] Autor:Urbonas V; Sadauskaite J; Cerkauskiene R; Kaminskas A; Mäki M; Kurppa K
[Ad] Endereço:Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
[Ti] Título:Population-Based Screening for Selective Immunoglobulin A (IgA) Deficiency in Lithuanian Children Using a Rapid Antibody-Based Fingertip Test.
[So] Source:Med Sci Monit;22:4773-4778, 2016 Dec 06.
[Is] ISSN:1643-3750
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND Selective immunoglobulin A (IgA) deficiency is the most common inherited immunodeficiency disorder worldwide. An early diagnosis is advocated because of the increased risk of infections, autoimmune diseases, and allergic reactions. We investigated the usefulness of a rapid point-of-care test in detecting for IgA deficiency in a population with a previously unknown prevalence. MATERIAL AND METHODS Altogether, 1000 children aged 11-13 years from randomly selected Lithuanian schools were enrolled. A point-of-care test with a fingertip sample was used to screen for the presence of IgA deficiency in children whose parents gave consent. Those with suspected IgA deficiency were referred to hospital for further clinical examination and confirmation of the diagnosis. In addition, their medical histories were compared with those of 30 age- and sex-matched healthy controls. RESULTS IgA deficiency was suspected in one girl and in three boys on the basis of the rapid test, and the diagnosis was confirmed for all four cases (prevalence 0.4%, 95% confidence interval 0.16-1.02%). There was no difference in disease history or complications between IgA-deficient children and healthy controls. CONCLUSIONS The rapid antibody test is a practical and accurate method to diagnose selective IgA deficiency in children. The prevalence of IgA deficiency among Lithuanian schoolchildren is 1:250.
[Mh] Termos MeSH primário: Deficiência de IgA/diagnóstico
Imunoglobulina A/sangue
[Mh] Termos MeSH secundário: Adolescente
Doenças Autoimunes/sangue
Doenças Autoimunes/diagnóstico
Doenças Autoimunes/epidemiologia
Criança
Diagnóstico Precoce
Feminino
Seres Humanos
Deficiência de IgA/sangue
Deficiência de IgA/epidemiologia
Lituânia/epidemiologia
Masculino
Programas de Rastreamento/métodos
Testes Imediatos
Prevalência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Immunoglobulin A)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170330
[Lr] Data última revisão:
170330
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161207
[St] Status:MEDLINE



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