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1.
Afr Health Sci ; 19(1): 1449-1459, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31148972

RESUMO

Background: Primary immunodeficiency diseases (PID) comprise a group of more than 300 diseases that affect development and /or function of the immune system. Objectives: The aim of this study was diagnosis of PID among a suspected group of neonates and infants within the first six months of life as well as identifying the warning signs of PID characteristic to this period. Method: Fifty neonates presenting with warning signs of PID were enrolled in the study. Results: The study revealed that twenty six patients (52%) were diagnosed with Primary Immunodeficiency, T cell/combined immunodeficiency were noted as the most common PID class (88.5%) with fourteen T-B-SCID patients (70%) and six T-B+ SCID patients (30%), phagocytic disorders were estimated to be 7.7% while 3.8% were unclassified immunodeficiency. The mean age of presentation for PID group was 1.42±1.38 months with a diagnostic lag of 3.08±1.78 months. Consanguinity was positive in 76.9% of the PID group. Lower respiratory tract infections, persistent fungal infections and lymphopenia were the most significant warning signs for diagnosing PID with a p value of (0.01). Combined, lower respiratory tract infections, fungal infections and lymphopenia were 12.3 times more likely to be associated with PID. Conclusion: Focused screening in high risk neonates proved to be a valuable tool for diagnosis of PID disorders.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Infecção/epidemiologia , Triagem Neonatal , Imunodeficiência Combinada Severa/epidemiologia , Infecções Bacterianas/diagnóstico , Consanguinidade , Egito/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Imunodeficiência Combinada Severa/diagnóstico
2.
Allergol. immunopatol ; 47(1): 38-42, ene.-feb. 2019. graf
Artigo em Inglês | IBECS | ID: ibc-180769

RESUMO

Introduction: Disseminated BCG infections among other complications of Bacillus Calmette-Guérin (BCG) vaccine are rare and have occurred in children with immunodeficiency disorders such as mendelian susceptibility to mycobacterial disease (MSMD) which could be due to defects in some elements of IL-12/IFN-γ axis. MSMD-causing mutations have been identified in 10 genes during the last two decades. Among them, mutations in the IL12Rβ1 and IFN gamma R1 genes constitute about 80% of recorded cases of MSMD syndrome. The aim of this study was to investigate IL-12RBeta1 and IFN- gammaR1 deficiencies in patients with disseminated BCG infection. Methods: This study was performed on 31 children with disseminated BCG infections who referred to children's medical center. Whole blood cell culture was performed in presence of BCG, IL-12 and IFN- gamma stimulators. The supernatants were assayed for IFN-gamma and IL-12p70 by ELISA method. In order to evaluate IL12Rbeta1 and IFN- gammaR1 receptors expression, flow cytometry staining was performed on the patients’ T-cells stimulated with PHA. Results: Flow cytometry staining of 31 Iranian patients with disseminated BCG infections with the average age of 43 months showed lack of the expression of IL-12RBeta1 and IFN- gamma R1 genes in PHA-T-cells of the nine and one patients, respectively in whom the incomplete production of IFN- gamma and IL-12 was reported by ELISA. Among these 10 patients, eight cases had related parents (80%). Conclusion: It is recommended that to avoid BCG complications, screening be performed for MSMD before BCG inoculation in individuals with positive family history of primary immunodeficiency diseases and inhabitants of areas with high frequency of consanguinity


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Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Vacina BCG/imunologia , Síndromes de Imunodeficiência/epidemiologia , Mutação/genética , Infecções por Mycobacterium/epidemiologia , Receptores de Interferon/genética , Interleucina-12/genética , Linfócitos T/imunologia , Células Cultivadas , Predisposição Genética para Doença , Imunização , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Interferon gama/metabolismo , Interleucina-12/metabolismo , Irã (Geográfico)/epidemiologia , Infecções por Mycobacterium/genética , Infecções por Mycobacterium/imunologia
3.
Eur J Haematol ; 102(6): 447-456, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30801785

RESUMO

OBJECTIVE: Despite long-standing safe and effective use of immunoglobulin replacement therapy (IgRT) in primary immunodeficiency, clinical data on IgRT in patients with secondary immunodeficiency (SID) due to B-cell lymphoproliferative diseases are limited. Here, we examine the correlation between approved IgRT indications, treatment recommendations, and clinical practice in SID. METHODS: An international online survey of 230 physicians responsible for the diagnosis of SID and the prescription of IgRT in patients with hematological malignancies was conducted. RESULTS: Serum immunoglobulin was measured in 83% of patients with multiple myeloma, 76% with chronic lymphocytic leukemia, and 69% with non-Hodgkin lymphoma. Most physicians (85%) prescribed IgRT after ≥2 severe infections. In Italy, Germany, Spain, and the United States, immunoglobulin use was above average in patients with hypogammaglobulinemia, while in the UK considerably fewer patients received IgRT. The use of subcutaneous immunoglobulin was highest in France (34%) and lowest in Spain (19%). Immunologists measured specific antibody responses, performed test immunization, implemented IgRT, and used subcutaneous immunoglobulin more frequently than physicians overall. CONCLUSIONS: The management of SID in hematological malignancies varied regionally. Clinical practice did not reflect treatment guidelines, highlighting the need for robust clinical studies on IgRT in this population and harmonization between countries and disciplines.


Assuntos
Neoplasias Hematológicas/complicações , Neoplasias Hematológicas/epidemiologia , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/etiologia , Gerenciamento Clínico , Saúde Global , Humanos , Imunoglobulinas/sangue , Imunoglobulinas/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Infecção/etiologia , Controle de Infecções , Vigilância em Saúde Pública , Resultado do Tratamento
4.
PLoS One ; 14(1): e0210353, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30633778

RESUMO

Seasonal influenza is a cause of hospitalization, especially in people with underlying disease or extreme age, and its severity may differ depending on the types and subtypes of circulating viruses. We investigated the factors associated with ICU admission or death in hospitalized patients with severe laboratory-confirmed influenza according to the viral type and subtype. An observational epidemiological study was carried out in patients aged ≥18 years from 12 Catalan hospitals between 2010 and 2016. For each reported case we collected demographic, virological and clinical characteristics. A mixed-effects logistic regression model was used to estimate crude and adjusted ORs. 1726 hospitalized patients were included: 595 (34.5%) were admitted to the ICU and 224 (13.0%) died. Lower ICU admission was associated with age ≥75 years in all influenza types and subtypes and with age 65-74 years for type A. In contrast, the 65-74 and ≥75 years age groups were associated with an increased risk of death in all types and subtypes, especially for type B (aOR 27.42, 95% CI: 4.95-151.93 and 15.96; 95% CI: 3.01-84.68). The comorbidity most closely associated with severe outcomes was immune deficiency, which was associated with death for type B (aOR 9.02, 95% CI: 3.05-26.69) and subtype A(H1N1)pdm09 (aOR 3.16, 95% CI: 1.77-5.66). Older age was a differential factor for ICU admission and death: it was associated with lower ICU admission but a risk factor for death. The comorbidity with the closest association with death was immune deficiency, mainly in influenza type B patients.


Assuntos
Influenza Humana/epidemiologia , Influenza Humana/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Cuidados Críticos , Feminino , Hospitalização , Humanos , Síndromes de Imunodeficiência/epidemiologia , Vírus da Influenza A Subtipo H1N1 , Vírus da Influenza A Subtipo H3N2 , Vírus da Influenza B , Influenza Humana/mortalidade , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco , Espanha/epidemiologia , Adulto Jovem
5.
Crit Rev Oncol Hematol ; 133: 149-162, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30661651

RESUMO

Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable to recurrent infections. Its severity is commensurate with the absolute count of neutrophil granulocytes in the circulation. In paediatric patients, neutropenia can have many different aetiologies. Primary causes make up but a small portion of the whole and are relatively unknown. In the past decades, a number of genes has been discovered that are responsible for congenital neutropenia. By perturbation of mitochondrial energy metabolism, vesicle trafficking or synthesis of functional proteins, these mutations cause a maturation arrest in myeloid precursor cells in the bone marrow. Apart from these isolated forms, congenital neutropenia is associated with a multiplicity of syndromic diseases that includes among others: oculocutaneous albinism, metabolic diseases and bone marrow failure syndromes. Congenital neutropenia is a primary immunodeficiency disease that is associated with recurrent bacterial infections, auto-inflammatory and auto-immune phenomena, haematological malignancy and neuro-psychiatric manifestations. The aim of this review is to give a comprehensive overview of the most recent literature concerning the clinical, aetiological and genetic features of congenital neutropenia and the syndromes in which it might be encountered.


Assuntos
Síndromes de Imunodeficiência , Neutropenia/congênito , Criança , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/genética , Neutropenia/complicações , Neutropenia/diagnóstico , Neutropenia/epidemiologia , Neutropenia/genética , Fenótipo
6.
Index enferm ; 27(3): 161-164, jul.-sept. 2018.
Artigo em Espanhol | IBECS | ID: ibc-180561

RESUMO

Introducción: La epidemia del VIH/Sida se ha reconfigurado en la última década, su tendencia a la feminización y ruralización se ha asociado de manera estrecha con la violencia de género y la discriminación racial. Objetivo: Analizar desde el marco del cuidado enfermero, el impacto de la violencia de pareja en la vida de una mujer indígena que vive con VIH. Metodología: Se trató de una aproximación desde el enfoque biográfico, la información recuperada se procesó mediante análisis crítico del discurso. Resultados: Los relatos recuperan las experiencias de una mujer indígena que contrajo VIH, y cómo la trayectoria de la enfermedad ha estado enmarcada por la violencia de pareja y la discriminación social. Conclusiones: La violencia de pareja contribuye a la vulnerabilidad de las mujeres indígenas frente al VIH/sida, la trayectoria de la enfermedad recrudece las formas de violencia que en general, viven estas mujeres


Introduction: The HIV/AIDS epidemic has been reconfigured in the last decade, its tendency to feminization and ruralization is associated with gender violence and racial discrimination. Objective: To analyze from the framework of nursing care, the impact of intimate partner violence on the lives of indigenous women living with HIV. Methodology: A biographical study was carried out, the recovered information was processed through critical discourse analysis. Results: The stories recover the experiences of an indigenous woman who contracted HIV, and how the trajectory of the disease has been framed by partner violence and social discrimination. Conclusions: Intimate partner violence contributes to the vulnerability of indigenous women in the face of HIV/AIDS; the trajectory of the disease exacerbates the forms of violence experienced by these women


Assuntos
Humanos , Feminino , Adulto Jovem , Adulto , População Indígena , Maus-Tratos Conjugais/etnologia , Direito à Saúde/legislação & jurisprudência , Violência contra a Mulher , Infecções por HIV/epidemiologia , Serviços de Saúde do Indígena , Populações Vulneráveis , Síndromes de Imunodeficiência/epidemiologia
7.
Endocr Metab Immune Disord Drug Targets ; 18(2): 175-183, 2018 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-29119939

RESUMO

BACKGROUND: Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of the immune system are defective. Immunoglobulin replacement therapy is the mainstay of treatment for patients with impaired antibody production. However, recurrent infections would continue to occur in some patients due to the other high frequent concomitant defects, such as mannose-binding lectin (MBL) deficiency. METHODS: A total of 51 PID patients participated in this cross-sectional study. A detailed questionnaire was completed by interviewing patients in order to record demographic, clinical and laboratory data. The levels of MBL were determined in the serums of patients by a sandwich enzyme-linked immunosorbent assay (ELISA) technique. RESULTS: MBL deficiency was found in 29.4% of cases; 11.8% patients had mild, 3.9% patients had moderate and 13.7% patients had severe MBL deficiency. In patients with MBL deficiency, the rate of meningitis, sepsis, pneumonia, and otitis media was higher than patients with normal MBL levels. Immunoglobulin replacement therapy reduced the rate of infectious complications in PID patients; however, these reductions were more apparent in patients with normal MBL levels than patients with MBL deficiency. CONCLUSION: Antibody deficient patients with a concomitant immune defect in MBL production have higher rates of recurrent infections despite receiving Immunoglobulin replacement therapy.


Assuntos
Doenças Genéticas Inatas/complicações , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/terapia , Lectinas Tipo C/deficiência , Lectinas de Ligação a Manose/deficiência , Infecções Oportunistas/complicações , Adolescente , Adulto , Antígenos CD , Criança , Estudos Transversais , Feminino , Seguimentos , Doenças Genéticas Inatas/sangue , Doenças Genéticas Inatas/fisiopatologia , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/fisiopatologia , Masculino , Herança Multifatorial , Infecções Oportunistas/imunologia , Infecções Oportunistas/prevenção & controle , Prevalência , Recidiva , Risco , Índice de Gravidade de Doença , Adulto Jovem
8.
Front Immunol ; 9: 3136, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30809233

RESUMO

Common understanding suggests that the normal function of a "healthy" immune system safe-guards and protects against the development of malignancies, whereas a genetically impaired one might increase the likelihood of their manifestation. This view is primarily based on and apparently supported by an increased incidence of such diseases in patients with specific forms of immunodeficiencies that are caused by high penetrant gene defects. As I will review and discuss herein, such constellations merely represent the tip of an iceberg. The overall situation is by far more varied and complex, especially if one takes into account the growing difficulties to define what actually constitutes an immunodeficiency and what defines a cancer predisposition. The enormous advances in genome sequencing, in bioinformatic analyses and in the functional in vitro and in vivo assessment of novel findings together with the availability of large databases provide us with a wealth of information that steadily increases the number of sequence variants that concur with clinically more or less recognizable immunological problems and their consequences. Since many of the newly identified hard-core defects are exceedingly rare, their tumor predisposing effect is difficult to ascertain. The analyses of large data sets, on the other hand, continuously supply us with low penetrant variants that, at least in statistical terms, are clearly tumor predisposing, although their specific relevance for the respective carriers still needs to be carefully assessed on an individual basis. Finally, defects and variants that affect the same gene families and pathways in both a constitutional and somatic setting underscore the fact that immunodeficiencies and cancer predisposition can be viewed as two closely related errors of development. Depending on the particular genetic and/or environmental context as well as the respective stage of development, the same changes can have either a neutral, predisposing and, in some instances, even a protective effect. To understand the interaction between the immune system, be it "normal" or "deficient" and tumor predisposition and development on a systemic level, one therefore needs to focus on the structure and dynamic functional organization of the entire immune system rather than on its isolated individual components alone.


Assuntos
Suscetibilidade a Doenças , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/epidemiologia , Neoplasias/epidemiologia , Neoplasias/etiologia , Fatores Etários , Animais , Suscetibilidade a Doenças/imunologia , Meio Ambiente , Interação Gene-Ambiente , Predisposição Genética para Doença , Neoplasias Hematológicas/epidemiologia , Neoplasias Hematológicas/etiologia , Humanos , Mutação
9.
Front Immunol ; 9: 3146, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30697212

RESUMO

Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry. Genomic DNA from patients with clinical and immunological features of PID was sequenced using Sanger sequencing (SS), next generation sequencing (NGS) of targeted genes, whole exome sequencing (WES), and/or whole genome sequencing (WGS). Functional assays were utilized to assess the biologic effect of identified variants. Fluorescence in situ hybridization (FISH) for 22q11.2 deletion and genomic hybridizations arrays were performed when thymic defects were suspected. Results: A total of 264 patients were registered during the study period with predominance of patients with immunodeficiencies affecting cellular and humoral immunity (35.2%), followed by combined immunodeficiencies with associated syndromic features (24%). Parental consanguinity and family history suggestive of PID were reported in 213 (81%) and 145 patients (55%), respectively. Genetic testing of 206 patients resulted in a diagnostic yield of 70%. Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by in an autosomal recessive pattern. The majority of the mutations were missense mutations (57%) followed by deletions and frame shift mutations. Five novel disease-causing genes were discovered. Conclusions: Genetic testing should be an integral part in the management of primary immunodeficiency patients. This will help the delivery of precision medicine and facilitate proper genetic counseling. Studying inbred populations using sophisticated diagnostic methods can allow better understanding of the genetics of primary immunodeficiency disorders.


Assuntos
Consanguinidade , Estudos de Associação Genética , Predisposição Genética para Doença , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/genética , Alelos , Biomarcadores , Estudos de Coortes , Feminino , Estudos de Associação Genética/métodos , Genética Populacional , Humanos , Síndromes de Imunodeficiência/diagnóstico , Hibridização in Situ Fluorescente , Kuweit/epidemiologia , Masculino , Mutação , Linhagem , Polimorfismo de Nucleotídeo Único , Sequenciamento Completo do Exoma
10.
Tunis Med ; 96(10-11): 672-677, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30746660

RESUMO

INTRODUCTION: Primary Immunodeficiency (PIDs) is a set of 330 rare hereditary diseases that increase susceptibility to infections, allergies, autoimmunity, and neoplasia. North American registries give higher prevalence than Maghreb ones, whereas consanguinity is high. The purpose of this study is to compare prevalence and coverage rate of Maghreb PID registries with estimates based on USA. METHODS: We searched the prevalence of PIDs in the Maghreb registers. Next, we estimated the expected values based on recent publications. Finally, we calculated the coverage rate of the Maghreb registries compared to the new estimates and we evaluated the impact of consanguinity. RESULTS: The total number is N1 = 2456 patients. The current Maghreb PID Prevalence is 2.56 / 100,000 inhabitants (population of 94,804,694 Million in 2017). Tunisia leads with a prevalence of 8.70 followed by Morocco 2.09, Libya 1.65 and Algeria 1.46/100.000 habitants. We did not find values for Mauritania. If we extrapolate the prevalence of the USA to the Maghreb population, the number of patients in the Maghreb would be N2 = 27,588 and the coverage rate (N1 / N2) would be 8.90%. This low coverage rate is however better than the World average (1.21%), that of Latin America 1.19% and Africa 0.36%. The Maghreb prevalence is close to that of the Arab world 2.04 / 100,000 (population of 391,449,544 in 2017). Using the incidence found in the USA, the number of patients would be 9765 new patients per year in the Maghreb and 40,319 in Arab countries. CONCLUSION: PID Maghreb patients number is very low compared to global estimates, whereas consanguinity is very high. Special attention should be given to PIDs by governments and research teams in this region.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , África/epidemiologia , África do Norte/epidemiologia , Argélia/epidemiologia , Ásia/epidemiologia , Consanguinidade , Europa (Continente)/epidemiologia , Humanos , Síndromes de Imunodeficiência/genética , Incidência , Oriente Médio/epidemiologia , Marrocos/epidemiologia , Prevalência , Sistema de Registros/estatística & dados numéricos , Estatística como Assunto/normas , Tunísia/epidemiologia , Estados Unidos/epidemiologia
11.
Rev Alerg Mex ; 65(4): 341-348, 2018.
Artigo em Espanhol | MEDLINE | ID: mdl-30602203

RESUMO

BACKGROUND: Primary immunodeficiencies are inherited diseases that compromise numerous systems and whose clinical manifestation is varied. It is an underdiagnosed pathology in Colombia. OBJECTIVES: To characterize primary immunodeficiencies in patients younger than 16 years who attended the San Rafael Clinical University Hospital, Bogota, between January 1, 2010 and July 1, 2016, as well as to provide information that enriches local, national and international statistics. METHODS: Observational study of a cases series. All patients diagnosed with primary immunodeficiencies were analyzed, with a total of 75 patients. RESULTS: Patients between one and five years of age (33 % of all cases) were the most affected, followed by patients from six to 11 months, including 17 cases; 21 cases corresponded to patients under 1 year of age; 80 % of affected children were males. Antibody deficiency was the most common type of immunodeficiency (56 %), followed by T/B lymphocyte deficiency (38 %). CONCLUSIONS: Patients with primary immunodeficiencies of the analyzed hospital had the same age and gender distribution observed in international studies. The most common primary immunodeficiency was due to antibody defects.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Criança , Pré-Escolar , Colômbia/epidemiologia , Feminino , Hospitais/classificação , Humanos , Lactente , Masculino , Sistema de Registros , Fatores de Tempo , Saúde da População Urbana
12.
J Allergy Clin Immunol ; 140(5): 1240-1243, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28962920

RESUMO

The tremendous increase in allergy in the African continent cannot simply be explained by the change in public hygiene. There are many "prehygiene" communities with sewage-contaminated water supplies, helminth infestations, bare footedness, and poor housing, and still there is a high prevalence of allergic disease. Africans can be exposed to many risk factors facilitating severe asthma and wheezing, including airborne viruses, smoke, indoor dampness, cockroaches, and poor access to health care. Although the reporting on food allergy is inadequate to perform systematic reviews or meta-analyses, the available data suggest that food allergy is underdiagnosed. The rate of new HIV infections in high-prevalence settings in Africa remains unacceptably high. Although the annual number of new HIV infections in Sub-Saharan Africa has decreased lately, new HIV infections in the Middle East and North Africa region have increased; however, the current prevalence of 0.1% is still among the lowest globally. Africa is densely populated, and consanguineous mating is high in some areas of North and Sub-Saharan Africa. This allows for emergence of many autosomal recessive primary immunodeficiency diseases. There is urgent need for the establishment of primary immunodeficiency disease registries, stem cell transplantation facilities, and neonatal screening programs. To address these expanding problems and perform local cutting-edge research, Africans need to be empowered by motivated governments, dedicated funds, and compassionate scientific partnership.


Assuntos
Alergia e Imunologia , Asma/imunologia , Infecções por HIV/imunologia , Hipersensibilidade/imunologia , Síndromes de Imunodeficiência/imunologia , África/epidemiologia , Asma/epidemiologia , Asma/terapia , Consanguinidade , Países em Desenvolvimento , Financiamento Governamental , Interação Gene-Ambiente , Infecções por HIV/epidemiologia , Humanos , Hipersensibilidade/epidemiologia , Hipersensibilidade/terapia , Síndromes de Imunodeficiência/epidemiologia , Recém-Nascido , Triagem Neonatal , Prevalência , Transplante de Células-Tronco
13.
Expert Rev Clin Immunol ; 13(11): 1099-1106, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-29019451

RESUMO

OBJECTIVES: The aim of this study was to evaluate the frequency of autoimmunity in primary antibody deficiency (PAD). METHODS: A total of 471 patients with PADs enrolled in this retrospective cohort study. For all patients' demographic information, clinical records and laboratory data were collected to investigate autoimmune complications. RESULTS: Autoimmune disorders as the first presentation of immunodeficiency were recorded in 11 patients (2.5%). History of autoimmunity was recorded in 125 patients during the course of the disease (26.5%). The frequency of autoimmunity in common variable immune deficiency (32.0%) was higher than other forms of PADs. The most common autoimmune manifestations were reported to be autoimmune gastrointestinal disease and autoimmune cytopenias. Among patients with autoimmunity, 87 patients (69.6%) had a history of one autoimmune disorder, while 38 patients (30.4%) had a history of multiple autoimmunities. The immune thrombocytopenic purpura and autoimmune hemolytic anemia were the most two concomitant autoimmune disorders in 16 (42.1%) of 38 patients with multiple autoimmunities. Comparing the frequency of Tregs in PAD patients with autoimmunity showed that, patients with multiple autoimmunities had lower Tregs than those with single autoimmunity (p = 0.017). CONCLUSION: It is important that non-immunologist physicians be alert of the associated autoimmunity with PADs in order to reduce the diagnostic delay and establish timely immunoglobulin replacement therapy in these patients.


Assuntos
Anemia Hemolítica Autoimune/epidemiologia , Imunodeficiência de Variável Comum/epidemiologia , Gastroenteropatias/epidemiologia , Síndromes de Imunodeficiência/epidemiologia , Púrpura Trombocitopênica Idiopática/epidemiologia , Linfócitos T Reguladores/imunologia , Adolescente , Adulto , Anemia Hemolítica Autoimune/imunologia , Autoanticorpos/metabolismo , Autoimunidade , Criança , Estudos de Coortes , Imunodeficiência de Variável Comum/imunologia , Diagnóstico Tardio , Feminino , Gastroenteropatias/imunologia , Humanos , Síndromes de Imunodeficiência/imunologia , Masculino , Púrpura Trombocitopênica Idiopática/imunologia , Estudos Retrospectivos , Adulto Jovem
14.
J Pediatric Infect Dis Soc ; 6(suppl_1): S3-S11, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28927200

RESUMO

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. Therefore, it is important to understand the contemporary epidemiology of IFD. Incidence rates of IFD in children are affected by geographical, population, and time variability. There is an ongoing effort to constantly document and update the incidence of IFD and species distribution among different pediatric populations as a means to direct preventative, diagnostic, and therapeutic resources to the most appropriate subset of patients. Children with a hematologic malignancy or a primary or secondary immunodeficiency, those undergoing solid organ or hematopoietic stem cell transplantation, and premature neonates are the major subsets of pediatric patients at risk of developing IFD. In this review, we focus on fungal disease epidemiology with a specific emphasis on the 2 most common pediatric IFDs, IC and invasive aspergillosis (IA).


Assuntos
Infecções Fúngicas Invasivas/epidemiologia , Aspergilose/epidemiologia , Candidíase/epidemiologia , Criança , Estado Terminal/epidemiologia , Infecção Hospitalar/epidemiologia , Neoplasias Hematológicas/epidemiologia , Transplante de Células-Tronco Hematopoéticas , Hospitalização , Humanos , Hospedeiro Imunocomprometido , Síndromes de Imunodeficiência/epidemiologia , Incidência , Unidades de Terapia Intensiva Neonatal , Unidades de Terapia Intensiva Pediátrica , Infecções Oportunistas/epidemiologia , Infecções Oportunistas/microbiologia , Taxa de Sobrevida , Transplantados
15.
Ann Allergy Asthma Immunol ; 119(3): 267-273, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28778662

RESUMO

BACKGROUND: Immunoglobulin E (IgE) deficiency (<2.5 kU/L) has unclear clinical significance. Very little is known about the clinical characteristics of IgE deficiency in patients with Common Variable Immunodeficiency (CVID). OBJECTIVE: To evaluate the clinical and laboratory differences between patients with IgE deficiency and those with non-IgE deficiency with and without CVID diagnosis. METHODS: This is a retrospective study of adult patients who had total serum IgE levels measured at our facility from 2010 through 2015. Patients with IgE levels lower than 2.5 kU/L composed the IgE deficiency group. We used Clinical Looking Glass software to identify laboratory results and comorbid conditions including CVID and malignancy. RESULTS: The IgE levels were measured in 2,339 patients and 63 (2.7%) had IgE deficiency. Of those with IgE deficiency, 14 of 63 (22%) had CVID diagnosis compared with only 62 of 2,276 patients (2.7%) with non-IgE deficiency and CVID. A significantly higher rate of prior malignancy was found in patients with IgE deficiency (21 of 63, 33%) compared with those with non-IgE deficiency (197 of 2,276, 8.7%; P = .001; odds ratio 5.51, 95% confidence interval 3.07-9.88). Six of 14 patients with CVID and IgE deficiency (43%) had a prior malignancy diagnosis compared with 8 of 62 patients (13%) with CVID and non-IgE deficiency (P = .009; odds ratio 10.65, 95% confidence interval 1.79-63.19). In addition to the higher rate of malignancy, patients with CVID and IgE deficiency did not have more severe disease than those with CVID and non-IgE deficiency. CONCLUSION: The rate of prior malignancy is significantly higher in patients with IgE deficiency than in those without IgE deficiency. Similarly, patients with CVID and IgE deficiency have a higher frequency of prior malignancy than those with CVID and non-IgE deficiency. However, patients with IgE deficiency have higher frequency of malignancy than patients with normal IgE levels even in the absence of CVID.


Assuntos
Imunoglobulina E/deficiência , Síndromes de Imunodeficiência/epidemiologia , Neoplasias/epidemiologia , Adulto , Idoso , Feminino , Humanos , Imunoglobulina E/sangue , Síndromes de Imunodeficiência/sangue , Incidência , Masculino , Pessoa de Meia-Idade , Neoplasias/sangue , Razão de Chances , Estudos Retrospectivos
16.
J Clin Immunol ; 37(7): 650-692, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28786026

RESUMO

In today's global economy and affordable vacation travel, it is increasingly important that visitors to another country and their physician be familiar with emerging infections, infections unique to a specific geographic region, and risks related to the process of travel. This is never more important than for patients with primary immunodeficiency disorders (PIDD). A recent review addressing common causes of fever in travelers provides important information for the general population Thwaites and Day (N Engl J Med 376:548-560, 2017). This review covers critical infectious and management concerns specifically related to travel for patients with PIDD. This review will discuss the context of the changing landscape of infections, highlight specific infections of concern, and profile distinct infection phenotypes in patients who are immune compromised. The organization of this review will address the environment driving emerging infections and several concerns unique to patients with PIDD. The first section addresses general considerations, the second section profiles specific infections organized according to mechanism of transmission, and the third section focuses on unique phenotypes and unique susceptibilities in patients with PIDDs. This review does not address most parasitic diseases. Reference tables provide easily accessible information on a broader range of infections than is described in the text.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , Infecção/epidemiologia , Viagem , Animais , Humanos
17.
Curr Allergy Asthma Rep ; 17(8): 57, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28755025

RESUMO

PURPOSE OF REVIEW: Inflammatory bowel disease is most often a polygenic disorder with contributions from the intestinal microbiome, defects in barrier function, and dysregulated host responses to microbial stimulation. There is, however, increasing recognition of single gene defects that underlie a subset of patients with inflammatory bowel disease, particularly those with early-onset disease, and this review focuses on the primary immunodeficiencies associated with early-onset inflammatory bowel disease. RECENT FINDINGS: The advent of next-generation sequencing has led to an improved recognition of single gene defects underlying some cases of inflammatory bowel disease. Among single gene defects, immune response genes are the most frequent category identified. This is also true of common genetic variants associated with inflammatory bowel disease, supporting a pivotal role for host responses in the pathogenesis. This review focuses on practical aspects related to diagnosis and management of children with inflammatory bowel disease who have underlying primary immunodeficiencies.


Assuntos
Síndromes de Imunodeficiência , Doenças Inflamatórias Intestinais , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/terapia , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/epidemiologia , Doenças Inflamatórias Intestinais/etiologia , Doenças Inflamatórias Intestinais/terapia
18.
J Clin Immunol ; 37(6): 603-612, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28755067

RESUMO

PURPOSE: To assess the efficacy and safety of panzyga® (intravenous immunoglobulin 10%) in preventing serious bacterial infections (SBIs) in patients with primary immunodeficiency diseases (PIDs), a prospective, open-label, multicenter, phase 3 study and an open-label extension study were undertaken. METHODS: Initially, the study drug (infusion rate ≤0.08 mL/kg/min) was administered at intervals of 3 or 4 weeks for 12 months, followed by 3 months of panzyga® at infusion rates increasing from 0.08 to 0.14 mL/kg/min. The primary endpoint in the main study was the rate of SBIs per patient-year on treatment. Secondary outcomes included non-serious infections, work/school absence, episodes of fever, quality of life, and adverse events (AEs). RESULTS: The main study enrolled 51 patients (35% female, mean age 26.8 years), with 21 participating in the extension study. The rate of SBIs per patient-year was 0.08 in the total population; there were four SBIs in the 4-weekly treatment group (2/30 patients) and none in the 3-weekly group (n = 21). Compared with 4-weekly treatment, 3-weekly treatment was associated with a higher rate of upper respiratory tract infections (RTIs), ear infections, and work/school absences, but a lower rate of lower RTIs and fever. Treatment was generally well tolerated; no AE led to treatment withdrawal or death. CONCLUSIONS: Overall, the use of panzyga® in patients with antibody-deficient PID was associated with a low rate of AEs and was effective in preventing SBIs, exceeding US FDA and European Medicines Agency recommendations for efficacy.


Assuntos
Infecções Bacterianas/terapia , Imunoglobulina G/uso terapêutico , Imunoglobulinas/deficiência , Síndromes de Imunodeficiência/terapia , Fatores Imunológicos/uso terapêutico , Imunoterapia/métodos , Adolescente , Adulto , Infecções Bacterianas/epidemiologia , Infecções Bacterianas/imunologia , Criança , Pré-Escolar , Feminino , Humanos , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/imunologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Qualidade de Vida , Resultado do Tratamento , Adulto Jovem
19.
Rev Med Interne ; 38(9): 578-584, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28683953

RESUMO

OBJECTIVES: To demonstrate the bioequivalence between 2 intravenous immunoglobulin (IVIG) preparations, TEGELINE® and ClairYg®, a ready-to-use 5% IVIG, in primary immunodeficiency (PID). Secondary objectives were to assess the efficacy, safety and pharmacokinetics of ClairYg®. METHODS: Twenty-two adult PID patients receiving stable doses of TEGELINE® (5% lyophilized IVIG) were switched to ClairYg® for 6 months. ClairYg® was administered under the same conditions as TEGELINE®, either every 3 or 4 weeks. The primary endpoint was mean average total IgG trough level at steady state with ClairYg® versus TEGELINE®. Clinical efficacy was also assessed in terms of infections and associated events. RESULTS: Bioequivalence was established with a mean average total IgG trough level at steady state being 8.05g/L with TEGELINE® and 9.17g/L with ClairYg® (i.e. geometric mean for the difference between ClairYg® and TEGELINE® was 1.136; [90% CI: 1.092-1.181] P<0.001), within the pre-specified margin to establish bioequivalence (0.80-1.25). Total IgG trough levels remained clinically adequate (>4-6g/L) throughout the study. No patient was hospitalized for infection or had serious bacterial infections while receiving ClairYg®. The median annualized infections rate per patient was similar for both products: 4.35 [0; 21.8] for TEGELINE® and 4.30 [0; 15.1] for ClairYg®. Infections were less common with higher IgG trough levels (>8.16g/L). ClairYg® showed good safety, in particular good hepatic and renal tolerance, and did not induce hemolysis. ClairYg® pharmacokinetics profile was comparable to that of TEGELINE®. CONCLUSION: ClairYg® is safe and effective in the treatment of adult PID.


Assuntos
Imunoglobulinas Intravenosas/farmacocinética , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/terapia , Adulto , Feminino , França/epidemiologia , Humanos , Imunoglobulina G/metabolismo , Imunoglobulina G/uso terapêutico , Síndromes de Imunodeficiência/epidemiologia , Síndromes de Imunodeficiência/metabolismo , Imunoterapia/métodos , Masculino , Pessoa de Meia-Idade , Equivalência Terapêutica , Resultado do Tratamento , Adulto Jovem
20.
J Clin Immunol ; 37(5): 496-504, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28597145

RESUMO

Despite the development of subcutaneous treatment, children and adolescents with primary immunodeficiency (PID) are vulnerable to a lower quality of life (QoL) than non-clinical participants. Comparisons have been offered in rare reports with limited sample sizes. No description is available of treatment beliefs and treatment satisfaction with standard tools. The objective of this study was to describe a large sample of patients with pediatric PID on QoL, treatment beliefs and satisfaction, and identify perceived benefits and issues of treatment both in children and parents. A mail-back survey was conducted in 60 patients with PID treated with subcutaneous Ig and their parents from a clinic in Montreal (QC, Canada). We used the standardized tools to assess for QoL levels, beliefs of necessity and concerns with treatment, and dimensions of satisfaction. We collected and coded perceived benefits and issues through open-ended questions. We found lower QoL in children with PID than in healthy non-clinical participants (median d = 0.40) and similar QoL levels to children with cancer (median d = 0.12). Participants considered their treatment as less necessary and able to control the illness and less convenient than patients with other conditions. Children were more prone to consider the treatment as convenient (69 vs. 47% p = .028) but reported more discomfort (24 vs. 10% p = .043) than parents. Results suggest a lower-than-expected QoL in pediatric PID. Aspects of the illness and treatment are probably unclear to patients and their families, as necessity beliefs were lower than expected. Educational strategies should be developed and assessed to address this issue.


Assuntos
Cultura , Síndromes de Imunodeficiência/epidemiologia , Satisfação do Paciente , Qualidade de Vida , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Pesquisas sobre Serviços de Saúde , Humanos , Imunoglobulinas/administração & dosagem , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Lactente , Recém-Nascido , Masculino , Aceitação pelo Paciente de Cuidados de Saúde , Autorrelato , Índice de Gravidade de Doença , Resultado do Tratamento
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