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2.
Front Immunol ; 11: 596761, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33329586

RESUMO

The disease course of COVID-19 in patients with immunodeficiencies is unclear, as well as the optimal therapeutic strategy. We report a case of a 37-year old male with common variable immunodeficiency disorder and a severe SARS-CoV-2 infection. After administration of convalescent plasma, the patient's condition improved rapidly. Despite clinical recovery, viral RNA remained detectable up to 60 days after onset of symptoms. We propose that convalescent plasma might be considered as a treatment option in patients with CVID and severe COVID-19. In addition, in patients with immunodeficiencies, a different clinical course is possible, with prolonged viral shedding.


Assuntos
Anticorpos Antivirais/administração & dosagem , Imunodeficiência de Variável Comum , RNA Viral , Eliminação de Partículas Virais , Adulto , /imunologia , Imunodeficiência de Variável Comum/sangue , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/terapia , Humanos , Imunização Passiva , Masculino , RNA Viral/sangue , RNA Viral/imunologia , /metabolismo , Eliminação de Partículas Virais/efeitos dos fármacos , Eliminação de Partículas Virais/imunologia
3.
Georgian Med News ; (306): 88-92, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33130653

RESUMO

Common variable immunodeficiency (CVID) is a kind of hypoimmunoglobulinemia of different spectrum with a dominant decrease of IgG with heterogeneity of clinical manifestations. In this publication, we provide an analysis of some world research sources on the diagnosis and treatment of the CVID and description of a clinical case of the CVID and the structural analysis of its frequency among primary immunodeficiencies in the adult population. We described the clinical case that demonstrates unusual manifestation of adult's outcome of CVID with cellular immune deficiencies and immunoglobulin А deficiency and RAG-2 gene mutation. There is the prevalence of CVID and hereditary hypo-/agammaglobulinemias among the primary diagnosed immunodeficiencies in the inhabitants of the Kyiv region, that is given the severity of clinical manifestations and need of replacement immunoglobulinotherapy. As early prognostic marker for the development of CVID and other defects of antibodies an immunoglobulin E deficiency can be considered.


Assuntos
Imunodeficiência de Variável Comum , Síndromes de Imunodeficiência , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/epidemiologia , Imunodeficiência de Variável Comum/terapia , Humanos , Mutação
6.
Am J Surg Pathol ; 44(8): 1073-1081, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32235152

RESUMO

Common variable immunodeficiency (CVID) and selective immunoglobulin A deficiency (IgAD) often cause chronic lung disease, but the pulmonary pathologic features of these systemic diseases are poorly recognized by pathologists. It has been claimed that CVID cases show a characteristic combination of noncaseating granulomas-lymphoid proliferations termed granulomatous-lymphocytic interstitial lung disease (GLILD). We present 34 surgical lung biopsy cases of CVID and 4 of IgAD. Noncaseating granulomas were seen in 23/34 (68%) CVID and 2/4 (50%) IgAD cases. A statistically identical pattern of benign lymphoid proliferation was found in CVID and IgAD whether or not granulomas were present. Organizing pneumonia, sometimes considered a part of GLILD, was seen in 25/34 (74%) CVID and 2/4 (50%) IgAD cases and did not correlate with the presence of granulomas. On follow-up, 3 CVID patients died (only 1 of pulmonary disease), while 21 others are alive at 1 to 300 months with no difference by presence or absence of granulomas. Three IgAD patients with follow-up are alive. We conclude that CVID and IgAD are indistinguishable in surgical lung biopsies and a subset of both show patterns that would qualify as GLILD, while other cases lack granulomas but have identical patterns of lymphoid infiltration and organizing pneumonia. We suggest that GLILD is neither a specific nor a useful entity, and biopsies from CVID and IgAD patients should be diagnosed simply by microscopic pattern(s) observed. The prognosis of CVID with lymphoid infiltrates with or without granulomas in this series was good, contrary to claims in the literature about GLILD.


Assuntos
Imunodeficiência de Variável Comum/patologia , Granuloma do Sistema Respiratório/patologia , Deficiência de IgA/patologia , Doenças Pulmonares Intersticiais/patologia , Pulmão/patologia , Linfócitos/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Proliferação de Células , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/mortalidade , Imunodeficiência de Variável Comum/terapia , Feminino , Granuloma do Sistema Respiratório/imunologia , Granuloma do Sistema Respiratório/mortalidade , Granuloma do Sistema Respiratório/terapia , Humanos , Deficiência de IgA/imunologia , Deficiência de IgA/mortalidade , Deficiência de IgA/terapia , Pulmão/imunologia , Doenças Pulmonares Intersticiais/imunologia , Doenças Pulmonares Intersticiais/mortalidade , Doenças Pulmonares Intersticiais/terapia , Linfócitos/imunologia , Masculino , Pessoa de Meia-Idade , América do Norte , Valor Preditivo dos Testes , Prognóstico , Adulto Jovem
7.
J Allergy Clin Immunol Pract ; 8(6): 1894-1899.e2, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32278865

RESUMO

BACKGROUND: A rapidly expanding pandemic of the new coronavirus has become the focus of global scientific attention. Data are lacking on the impact of the pandemic caused by the severe acute respiratory syndrome coronavirus 2 on health-related quality of life among patients affected by primary antibody deficiencies (PADs). OBJECTIVE: To identify factors impacting the health-related-quality of life (HRQOL) among Italian patients affected by PADs switched to remote assistance at the time of the coronavirus disease 2019 pandemic. METHODS: The quality of life was surveyed in 158 patients with PADs by the Common Variable Immune Deficiency Quality of Life questionnaire, a disease-specific tool, and by the 12-item General Health Questionnaire, a generic tool to assess the risk of anxiety/depression. Since the beginning of the coronavirus disease 2019 epidemic, we shifted all patients with PADs to home therapy, and activated remote visits. Questionnaires were sent by email 4 weeks later. Common Variable Immune Deficiency Quality of Life questionnaire and 12-item General Health Questionnaire data scores were compared with the same set of data from a survey done in 2017. RESULTS: Of 210 patients, 158 (75%) agreed to participate. The quality of life was worse in the group of patients who were at risk of anxiety/depression at the study time. HRQOL was similar in patients forced to shift from hospital-based to home-based immunoglobulin treatment and in patients who continued their usual home-based replacement. The risk of anxiety/depression is associated with pandemia caused by the severe acute respiratory syndrome coronavirus 2 and with patients' fragility, and not with related clinical conditions associated with common variable immune deficiencies. Anxiety about running out of medications is a major new issue. CONCLUSIONS: The coronavirus disease 2019 epidemic impacted HRQOL and the risk of anxiety/depression of patients with PADs. The remote assistance program was a useful possibility to limit personal contacts without influencing the HRQOL.


Assuntos
Ansiedade/psicologia , Imunodeficiência de Variável Comum/psicologia , Imunodeficiência de Variável Comum/terapia , Infecções por Coronavirus/prevenção & controle , Depressão/psicologia , Imunoglobulinas/administração & dosagem , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Qualidade de Vida/psicologia , Adolescente , Adulto , Idoso , Infecções por Coronavirus/epidemiologia , Feminino , Terapia por Infusões no Domicílio/psicologia , Humanos , Infusões Subcutâneas , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Pneumonia Viral/epidemiologia , Inquéritos e Questionários , Telemedicina , Adulto Jovem
8.
Artigo em Inglês | MEDLINE | ID: mdl-30741636

RESUMO

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management.


Assuntos
Imunodeficiência de Variável Comum/epidemiologia , Imunoglobulinas Intravenosas/uso terapêutico , Agamaglobulinemia , Animais , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Interação Gene-Ambiente , Transplante de Células-Tronco Hematopoéticas , Humanos , Fenótipo
9.
J. investig. allergol. clin. immunol ; 30(1): 14-34, 2020. tab, graf
Artigo em Inglês | IBECS | ID: ibc-194103

RESUMO

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management


La inmunodeficiencia variable común (CVID) es un trastorno heterogéneo caracterizado por una hipogammaglobulinemia y por una mayor susceptibilidad a infecciones bacterianas recurrentes. Se trata de la inmunodeficiencia humoral sintomática más frecuente y cursa con una extensa variedad de complicaciones infecciosas y no infecciosas. En la patogenia de la CVID están involucrados diferentes defectos inmunológicos y genéticos. Sin embargo, en la mayoría de los casos, el fondo genético de la enfermedad permanece sin identificar. Esta revisión tiene como objetivo discutir diferentes aspectos de la CVID, incluyendo epidemiología, patogenia, síntomas, diagnóstico, clasificaciones y tratamiento de la enfermedad


Assuntos
Humanos , Animais , Imunodeficiência de Variável Comum/epidemiologia , Imunoglobulinas Intravenosas/uso terapêutico , Agamaglobulinemia , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Interação Gene-Ambiente , Transplante de Células-Tronco Hematopoéticas , Fenótipo
11.
J Clin Immunol ; 39(7): 726-738, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31432443

RESUMO

INTRODUCTION: Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). The aim of this study was to compare patients with LRBA-related ALPS and LRBA-related CVID, to describe their clinical and laboratory phenotypes, and to prepare an algorithm for their diagnosis and management. METHODS: Fifteen LRBA-deficient patients were identified among 31 CVID and 14 possible ALPS patients with Western blotting (WB), primary immunodeficiency disease (PIDD) gene, next-generation panel screening (NGS), and whole exome sequencing (WES). RESULTS: The median age on admission and age of diagnosis were 7 years (0.3-16.5) and 11 years (5-44), respectively. Splenomegaly was seen in 93.3% (14/15) of the patients on admission. Splenectomy was performed to 1/5. Recurrent upper respiratory tract infections (93.3% (14/15)), autoimmune cytopenia (80% (12/15)), chronic diarrhea (53.3% (8/15)), lower respiratory tract infections (53.3% (8/15)), lymphoma (26.6% (4/15)), Evans syndrome (26.6% (4/15)), and autoimmune thyroiditis (20% (3/15)) were common clinical findings and diseases. Lymphopenia (5/15), intermittant neutropenia (4/15), eosinophilia (4/15), and progressive hypogammaglobulinemia are recorded in given number of patients. Double negative T cells (TCRαß+CD4-CD8-) were increased in 80% (8/10) of the patients. B cell percentage/numbers were low in 60% (9/15) of the patients on admission. Decreased switched memory B cells, decreased naive and recent thymic emigrant (RTE) Thelper (Th) cells, markedly increased effector memory/effector memory RA+ (TEMRA) Th were documented. Large PD1+ population, increased memory, and enlarged follicular helper T cell population in the CD4+ T cell compartment was seen in one of the patients. Most of the deleterious missense mutations were located in the DUF1088 and BEACH domains. Interestingly, one of the two siblings with the same homozygous LRBA defect did not have any clinical symptom. Hematopoietic stem cell transplantation (HSCT) was performed to 7/15 (46.6%) of the patients. Transplanted patients are alive and well after a median of 2 years (1-3). In total, one patient died from sepsis during adulthood before HSCT. CONCLUSION: Patients with LRBA deficiency may initially be diagnosed as CVID or ALPS in the clinical practice. Progressive decrease in B cells as well as IgG in ALPS-like patients and addition of IBD symptoms in the follow-up should raise the suspicion for LRBA deficiency. Decreased switched memory B cells, decreased naive and recent thymic emigrant (RTE) Th cells, and markedly increased effector memory/effector memory RA+ Th cells (TEMRA Th) cells are important for the diagnosis of the patients in addition to clinical features. Analysis of protein by either WB or flow cytometry is required when the clinicians come across especially with missense LRBA variants of uncertain significance. High rate of malignancy shows the regulatory T cell's important role of immune surveillance. HSCT is curative and succesful in patients with HLA-matched family donor.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/deficiência , Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/etiologia , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/etiologia , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adolescente , Adulto , Síndrome Linfoproliferativa Autoimune/complicações , Síndrome Linfoproliferativa Autoimune/terapia , Biomarcadores , Criança , Pré-Escolar , Terapia Combinada , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/terapia , Doenças Transmissíveis/etiologia , Feminino , Estudos de Associação Genética/métodos , Loci Gênicos , Transplante de Células-Tronco Hematopoéticas , Humanos , Imunofenotipagem , Masculino , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/metabolismo , Resultado do Tratamento , Sequenciamento Completo do Exoma , Adulto Jovem
12.
Expert Rev Clin Immunol ; 15(10): 1105-1113, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31452405

RESUMO

Background: Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency (PID) disorder characterized by variable clinical manifestations including recurrent infections, autoimmune disorders, enteropathy, lymphoproliferative disorders, and malignancy. The aim of this study is to estimate the overall prevalence of malignancy in patients with CVID. Methods: PubMed, Web of Science and Scopus were searched systemically to find eligible studies from the earliest available date to March 2019 with standard keywords. Pooled estimates of the malignancy prevalence and the corresponding 95% confidence intervals (CI) were calculated using random effects models. Results: Forty-eight studies with a total of 8123 CVID patients met the inclusion criteria and were finally included in the meta-analysis. Overall prevalence of malignancy was 8.6% (95% CI: 7.1-10.0; I2 = 79.2%). The prevalence of lymphoma, gastric cancer, and breast cancer in CVID patients were 4.1% (95% CI: 3.3-4.9; I2 = 62.6%), 1.5% (95% CI: 0.78-2.2; I2 = 68.9%), and 1.3% (95% CI: 0.64-1.9; I2 = 54.9%), respectively. Moreover, autoimmunity and malabsorption were more frequent in patients with malignancy than those without malignancy. Conclusion: The prevalence of malignancy has increased in CVID patients due to recent improvement in survival rate and the lymphoma is the most common type. This research highlighted the significance of malignancy screening and management in CVID patients.


Assuntos
Imunodeficiência de Variável Comum/complicações , Neoplasias/epidemiologia , Autoimunidade , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/terapia , Humanos , Síndromes de Malabsorção/etiologia , Prevalência
13.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(6): 429-434, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31196799

RESUMO

AIMS: To determine the incidence of olfactory dysfunction in common variable immunodeficiency patients. To evaluate the correlation between olfactory dysfunction and chronic rhinosinusitis in this class of patients. MATERIALS AND METHODS: Fifty patients, with a diagnosis of common variable immunodeficiency and under immunoglobulin replacement therapy, were submitted to an otolaryngology physical examination and a CT scan of the craniofacial structures in order to show the presence of signs of chronic rhinosinusitis. An olfactory function evaluation was executed using the Sniffin' Sticks Test, with assessment of olfactory threshold, discrimination, identification and overall composite scores (TDI: threshold-discrimination-identification score). RESULTS: An olfactory dysfunction was found in 23 (46%) common variable immunodeficiency patients, with hyposmia and anosmia respectively present in 65% and 38% of them. The mean TDI score in the study group was 27.7. Common variable immunodeficiency patients with CRS presented a more suggestive increase of the olfactory threshold, discrimination and identification compared to those without chronic rhinosinusitis. CONCLUSION: In conclusion, patients with common variable immunodeficiency seem to suffer from olfactory disorders more than healthy people. One of the causal factors could be considered the presence of rhinosinusal pathologies.


Assuntos
Imunodeficiência de Variável Comum/diagnóstico , Transtornos do Olfato/diagnóstico , Adulto , Doença Crônica , Imunodeficiência de Variável Comum/terapia , Feminino , Humanos , Imunização Passiva , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Rinite/diagnóstico , Rinite/terapia , Limiar Sensorial , Sinusite/diagnóstico , Sinusite/terapia
14.
Chest ; 156(3): 579-593, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31128118

RESUMO

Common variable immunodeficiency disorders refer to a relatively common primary immune deficiency group of diseases that present with infectious and inflammatory complications secondary to defects in antibody production and sometimes in cellular immunity. The disorder often presents in middle age or later with recurrent sinopulmonary infections, bronchiectasis, or a plethora of noninfectious complications such as autoimmune disorders, granulomatous interstitial lung disease, GI diseases, malignancies (including lymphoma), and multisystem granulomatous disease resembling sarcoidosis. Infusion of immunoglobulin by IV or subcutaneous is the mainstay of therapy. Management of complications is often difficult as immune suppression may be necessary in these conditions and entails the use of medications and biologicals which may further increase the risk for infections. Specifically, bronchiectasis, granulomatous lymphocytic interstitial lung disease, repeated sinopulmonary infections, and malignancies are sequelae of antibody deficiency that may present to the pulmonologist. This review will provide an updated understanding of the molecular aspects, differential diagnosis, presentations, and the management of common variable immunodeficiency disorders.


Assuntos
Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/terapia , Imunodeficiência de Variável Comum/diagnóstico , Humanos
15.
Rev Med Interne ; 40(8): 491-500, 2019 Aug.
Artigo em Francês | MEDLINE | ID: mdl-31101329

RESUMO

INTRODUCTION: Ten to 15% of common variable immunodeficiencies (CVID) develop auto-immune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Treatment is based on immunosuppressants, which produce blocking effects in the CVID. Our objective was to assess their risk-benefit ratio in these immunocompromised patients. METHODS: We identified 17 articles detailing the treatment of AIHA and/or ITP in patients suffering from CVID through a systematic review of the MEDLINE database. RESULTS: The increased infectious risk with corticosteroids does not call into question their place in the first line of treatment of ITP and AIHA in CVID. High-doses immunoglobulin therapy remain reserved for ITP with a high risk of bleeding. In second-line treatment, rituximab appears to be effective, with a lower infectious risk than the splenectomy. Immunosuppressants (azathioprine, methotrexate, mycophenolate, cyclophosphamide, vincristine, ciclosporine) are moderately effective and often lead to severe infections, meaning that their use is justified only in resistant cases and steroid-sparing. Dapsone, danazol and anti-D immunoglobulins have an unfavorable risk-benefit ratio. The place of TPO receptor agonists is still to be defined. The establishment of immunoglobulin replacement in the place of immunosuppressants (except for short-term corticotherapy) or splenectomy appears to be essential to limit the risk of infections, including in the absence of previous infections. CONCLUSION: The presence of CVID does not mean that it is necessary to give up on corticosteroids as a first-line treatment and rituximab as a second-line treatment for AIHA and ITP, but it should be in addition to immunoglobulin replacement. A splenectomy should be reserved as a third-line treatment.


Assuntos
Anemia Hemolítica Autoimune/terapia , Imunodeficiência de Variável Comum/terapia , Púrpura Trombocitopênica Idiopática/terapia , Danazol/uso terapêutico , Glucocorticoides/uso terapêutico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Imunossupressores/uso terapêutico , Receptores de Trombopoetina/agonistas , Rituximab/uso terapêutico , Esplenectomia
17.
Clin Exp Immunol ; 196(3): 328-335, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30724343

RESUMO

Common variable immunodeficiency (CVID) represents a heterogeneous group of rare disorders. There is considerable morbidity and mortality as a result of non-infectious complications, and this presents clinicians with management challenges. Clinical guidelines to support the management of CVID are urgently required. The UK Primary Immunodeficiency Network and the British Society for Immunology funded a joint project to address this. A modified Delphi Survey was conducted for the assessment, diagnosis and treatment of the non-infectious blood, respiratory, gut and liver complications of CVID. A steering group of 10 consultant immunologists and one nurse specialist developed and reviewed the survey statements and agreed the final recommendations. In total, 22 recommendations and three areas for research were developed.


Assuntos
Alergia e Imunologia , Imunodeficiência de Variável Comum/diagnóstico , Prova Pericial , Imunodeficiência de Variável Comum/terapia , Dissidências e Disputas , Humanos , Enfermeiras e Enfermeiros , Guias de Prática Clínica como Assunto , Sociedades Médicas , Inquéritos e Questionários , Reino Unido
18.
Hum Vaccin Immunother ; 15(5): 1123-1125, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30676854

RESUMO

Deficient antibody production in patients with common variable immunodeficiency (CVID) is accompanied by an inability to produce free light chains (FLCs), particularly kappa (κ) FLC, due to B-cell dysfunction. We found that intravenous immunoglobulin (IVIg) administration, in a patient with CVID and (κ) FLC deficiency, for o short period of only 6 months, induced after discontinuation of treatment some kind of "long-lasting active immunity", leading to the secretion of immunoglobulin (κ) FLCs. A remarkable finding of our study is how effectively IVIg therapy led to a calculable (κ/λ) FLCs ratio, within the reference range. IVIg therapy may have functioned as an idiotype vaccine which induced a humoral response. To date, several questions remain open. For instance, from a clinical standpoint, we do not know whether this form of active immunotherapy has the potential to cure or just to control the immunoglobulin (κ) FLC deficiency. Further studies are necessary to confirm these findings.


Assuntos
Imunodeficiência de Variável Comum/terapia , Imunoglobulinas Intravenosas/uso terapêutico , Imunoglobulinas/deficiência , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/terapia , Administração Intravenosa , Adulto , Feminino , Humanos , Cadeias Leves de Imunoglobulina , Imunoglobulinas/imunologia , Síndromes de Imunodeficiência/diagnóstico , Resultado do Tratamento
19.
Front Immunol ; 10: 2753, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31921101

RESUMO

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and comprises a group of disorders with similar antibody deficiency but a myriad of different etiologies, most of which remain undefined. The variable aspect of CVID refers to the approximately half of patients who develop non-infectious complications in addition to heightened susceptibility to infection. The pathogenesis of these complications is poorly understood and somewhat counterintuitive because these patients that are defined by their immune futility simultaneously have elevated propensity for autoimmune disease. There are numerous aspects of immune dysregulation associated with autoimmunity in CVID that have only begun to be studied. These findings include elevations of T helper type 1 and follicular helper T cells and B cells expressing low levels of CD21 as well as reciprocal decreases in regulatory T cells and isotype-switched memory B cells. Recently, advances in genomics have furthered our understanding of the fundamental biology underlying autoimmunity in CVID and led to precision therapeutic approaches. However, these genetic etiologies are also associated with clinical heterogeneity and incomplete penetrance, highlighting the fact that continued research efforts remain necessary to optimize treatment. Additional factors, such as commensal microbial dysbiosis, remain to be better elucidated. Thus, while recent advances in our understanding of CVID-associated autoimmunity have been exciting and substantial, these current scientific advances must now serve as building blocks for the next stages of discovery.


Assuntos
Autoimunidade , Imunodeficiência de Variável Comum/etiologia , Suscetibilidade a Doenças , Animais , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Doenças Autoimunes/metabolismo , Doenças Autoimunes/terapia , Linfócitos B/imunologia , Linfócitos B/metabolismo , Biomarcadores , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/metabolismo , Imunodeficiência de Variável Comum/terapia , Gerenciamento Clínico , Predisposição Genética para Doença , Humanos , Imunofenotipagem , Microbiota , Linfócitos T/imunologia , Linfócitos T/metabolismo
20.
Diagn Microbiol Infect Dis ; 93(1): 69-73, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30174143

RESUMO

OBJECTIVE: Predictive factors associated with clinical outcomes of chronic norovirus infection (CNI) in primary immunodeficiency diseases (PIDD) are lacking. METHOD: We sought to characterize CNI using a multi-institutional cohort of patients with PIDD and CNI using the Clinical Immunology Society's CIS-PIDD Listserv e-mail group. RESULTS: Thirty-four subjects (21 males and 13 females) were reported from centers across North America, Europe, and Asia. All subjects were receiving high doses (median IgG dose: 1200 mg/kg/month) of supplemental immunoglobulin therapy. Fifty-three percent had a complete absence of B cells (median B-cell count 0; range 0-139 cells/µL). Common Variable Immune Deficiency (CVID) subjects manifested a unique phenotype with B-cell lymphopenia, non O+ blood type, and villous atrophy (logistic regression model, P = 0.01). Five subjects died, all of whom had no evidence of villous atrophy. CONCLUSION: While Norovirus (NoV) is thought to replicate in B cells, in this PIDD cohort of CNI, B-cell lymphopenia was common, indicating that the presence of B lymphocytes is not essential for CNI.


Assuntos
Infecções por Caliciviridae/imunologia , Síndromes de Imunodeficiência/virologia , Norovirus/fisiologia , Adolescente , Adulto , Linfócitos B/patologia , Infecções por Caliciviridae/mortalidade , Infecções por Caliciviridae/patologia , Doença Crônica , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/patologia , Imunodeficiência de Variável Comum/terapia , Imunodeficiência de Variável Comum/virologia , Feminino , Gastroenterite/imunologia , Gastroenterite/mortalidade , Gastroenterite/patologia , Humanos , Imunização Passiva , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/patologia , Síndromes de Imunodeficiência/terapia , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Norovirus/genética , Estudos Retrospectivos , Adulto Jovem
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