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1.
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
2.
Immunol Rev ; 287(1): 145-161, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30565247

RESUMO

Starting about 60 years ago, a number of reports appeared that outlined the severe clinical course of a few adult subjects with profound hypogammaglobinemia. Puzzled by the lack of family history and adult onset of symptoms in most, the name "acquired" hypogammaglobinemia was given, but later altered to the current name common variable immune deficiency. Pathology reports remarked on the loss of lymph node architecture and paucity of plasma cells in lymphoid tissues in these subjects. While characterized by reduced serum IgG and IgA and often IgM, and thus classified among the B-cell defects, an increasing number of cellular defects in these patients have been recognized over time. In the early years, severe respiratory tract infections commonly led to a shortened life span, but the wide spread availability of immune globulin concentrates for the last 25 years has improved survival. However, chronic non-infectious inflammatory and autoimmune conditions have now emerged as challenging clinical problems; these require further immunologic understanding and additional therapeutic measures. Recent study of this phenotypic syndrome have provided an increasingly fertile ground for the identification of autosomal recessive and now more commonly, autosomal dominant gene defects which lead to the loss of B-cell development in this syndrome.


Assuntos
Linfócitos B/fisiologia , Imunodeficiência de Variável Comum/imunologia , Agamaglobulinemia , Animais , Autoimunidade , Diferenciação Celular , Imunodeficiência de Variável Comum/genética , Imunodeficiência de Variável Comum/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fenótipo , Infecções Respiratórias
3.
Transfusion ; 58 Suppl 3: 3056-3064, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30536429

RESUMO

Primary immunodeficiency (PID) diseases result from genetic defects of the immune system that increase a patient's susceptibility to infections. The types of infections that occur in patients with PID diseases are dictated largely by the nature of the immunodeficiency, which can be defined by dysfunction of cellular or humoral defenses. An increasing number of PID diseases, including those with both cellular and humoral defects, have antibody deficiency as a major feature, and as a result can benefit from immunoglobulin replacement therapy. In fact, the most common PID diseases worldwide are antibody deficiencies and include common variable immunodeficiency, congenital agammaglobulinemia, hyper-IgM syndrome, specific antibody deficiency, and Good syndrome. Although immunoglobulin replacement therapy is the cornerstone of treatment for the majority of these conditions, a thorough understanding of the specific infections for which these patients are at increased risk can hasten diagnosis and guide additional therapies. Moreover, the infection trends in some patients with PID disease who have profound defects of cellular immunity, such as autosomal-dominant hyper-IgE syndrome (Job/Buckley syndrome) or dedicator of cytokinesis 8 (DOCK8) deficiency, suggest that select patients might benefit from immunoglobulin replacement therapy even if their immunodeficiency is not limited to antibody defects. In this review, we provide an overview of the predisposition to infections seen in PID disease that may benefit from immunoglobulin replacement therapy.


Assuntos
Imunoglobulinas/uso terapêutico , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/terapia , /imunologia , Agamaglobulinemia/complicações , Agamaglobulinemia/imunologia , Agamaglobulinemia/terapia , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/terapia , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Humanos , Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/imunologia , Fatores de Risco
5.
Medicine (Baltimore) ; 97(44): e12804, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30383634

RESUMO

RATIONALE: Subcutaneous immunoglobulin administration facilitated by recombinant human hyaluronidase is a new mode of immunoglobulin replacement. It has been approved for treatment in primary and secondary antibody immunodeficiency. To date, it has not been reported in the literature as therapy of choice during pregnancy. PATIENT CONCERNS: We report a 31-year-old woman with common variable immunodeficiency (CVID) followed during her first pregnancy. DIAGNOSES: The patient had a history of increased susceptibility to infections and autoimmune phenomena. From diagnosis at the age 29, she received IVIg replacement with partial response to treatment. Due to medical indications and lack of venous access, we had to search for another mode of application. The patient refused traditional, weekly conventional subcutaneous immunoglobulin (SCIg) administration. INTERVENTIONS: Immunoglobulin replacement therapy was successfully continued during pregnancy after the IV route was replaced with subcutaneous administration facilitated by recombinant human hyaluronidase. The frequency of infusions was every 3-4 weeks. OUTCOMES: The treatment was effective and well tolerated by the patient who continued it after delivery. Dosage and the schedule of infusions provided sufficient immunoglobulin G (IgG) levels for the newborn baby. LESSONS: The presented CVID case illustrates that the selection of the mode of immunoglobulin administration has to be a shared decision, which considers both patient preferences and medical needs. This approach is especially important for the pregnancy period. The case shows that the switch from IVIg to fSCIg can be a management option during pregnancy.


Assuntos
Imunodeficiência de Variável Comum/terapia , Imunização Passiva/métodos , Adulto , Antígenos de Neoplasias/administração & dosagem , Feminino , Histona Acetiltransferases/administração & dosagem , Humanos , Hialuronoglucosaminidase/administração & dosagem , Imunoglobulina G/sangue , Injeções Subcutâneas , Gravidez
6.
Curr Pharm Biotechnol ; 19(9): 734-741, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30336770

RESUMO

BACKGROUND: Common variable immunodeficiency (CVID) encompasses a heterogeneous group of primary antibody deficiency disorders characterized by recurrent infections, autoimmunity and malignancies. Gastrointestinal manifestations are frequently associated with CVID. OBJECTIVE: In this cross-sectional study, we evaluated gastric and duodenal involvement in a cohort of adult patients with CVID. METHODS: Upper gastrointestinal endoscopy was performed in 58 patients (26 males, mean age 47.8±15.6 years), diagnosed with CVID according to 2014 ESID criteria. Random biopsies were collected from gastric antrum and descending duodenum for the all enrolled subjects. Intraepithelial lymphocytosis in descending duodenum was defined as the presence of 25 lymphocytes per 100 enterocytes. RESULTS: The major histopathological findings that we found were: a) chronic active gastritis (44.8%), Helicobacter pylori-associated (8.6%), b) chronic duodenitis (39.6%) with intraepithelial lymphocytosis (31%) and absence of plasma cells (18.9%) and c) autoimmune atrophic gastritis (5.2%). Three patients (5.2%) presented Intestinal Metaplasia (IM) of the gastric antrum. This finding was associated with H. pylori infection and persisted after the eradication in one patient. IM was associated with autoimmune atrophic gastritis in two cases. Giardia lamblia infection was observed in the duodenum samples from three patients (5.2%). A diagnosis of Gastric adenocarcinoma was made in a 58-year- old woman diagnosed with gastric dysplasia one year earlier. CONCLUSION: In our cohort of CVID patients, gastro-duodenal histopathological findings, including malignancies, are frequent and can affect long-term prognosis. A rigorous endoscopic follow-up is needed in CVID patients irrespective of the gastrointestinal symptoms.


Assuntos
Imunodeficiência de Variável Comum/imunologia , Duodenite/imunologia , Gastrite/imunologia , Imunização Passiva/métodos , Adulto , Idoso , Imunodeficiência de Variável Comum/epidemiologia , Imunodeficiência de Variável Comum/patologia , Imunodeficiência de Variável Comum/terapia , Estudos Transversais , Duodenite/epidemiologia , Duodenite/patologia , Endoscopia Gastrointestinal , Feminino , Gastrite/epidemiologia , Gastrite/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Distribuição Aleatória
8.
Clin Exp Immunol ; 194(3): 327-338, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30168848

RESUMO

Patients with common variable immunodeficiency (CVID) have increased fatigue compared with the general population. Fatigue is associated with lower quality of life (QoL), which is associated with higher mortality in CVID. This study aimed to determine the prevalence of self-reported fatigue for patients with CVID and to identify its possible drivers and burden on QoL. We analysed data from the 2013 Immune Deficiency Foundation (IDF) treatment survey. Answers were included from 873 CVID patients who responded (respondents). Of the 873 respondents included in the analysis, 671 (76·9%) reported fatigue, of whom 400 (83·7%) were receiving intravenous (i.v.) immunoglobulins (IVIG) and 271 (68·6%) were receiving subcutaneous (s.c.) immunoglobulins. This difference in fatigue between patients receiving IVIG and SCIG was statistically significant (P < 0·001). Dose and frequency of immunoglobulin replacement therapy (IgGRT) did not affect fatigue prevalence. Fatigued patients on IVIG reported greater infection rates and required more anti-microbials during the wear-off period. Fatigued patients reported worse health status than non-fatigued patients, and had lower rates of employment, education, household income and school attendance than their non-fatigued counterparts. Fatigue is increased in CVID, especially among patients receiving IVIG, compared to SCIG. Fatigue has a significant impact on QoL and productivity in patients with CVID. Further studies to identify the mechanisms of fatigue are warranted to help advance therapeutic measures to treat this disease and improve patients' QoL and wellbeing.


Assuntos
Imunodeficiência de Variável Comum/patologia , Imunodeficiência de Variável Comum/terapia , Fadiga/epidemiologia , Imunoglobulina G/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Qualidade de Vida , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/mortalidade , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Autorrelato , Fatores Sexuais , Inquéritos e Questionários , Adulto Jovem
9.
Front Immunol ; 9: 1927, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30214442

RESUMO

The scaffold proteins CARMA1-3 (encoded by the genes CARD11, -14 and -10) and CARD9 play major roles in signaling downstream of receptors with immunoreceptor tyrosine activation motifs (ITAMs), G-protein coupled receptors (GPCR) and receptor tyrosine kinases (RTK). These receptors trigger the formation of oligomeric CARMA/CARD-BCL10-MALT1 (CBM) complexes via kinases of the PKC family. The CBM in turn regulates gene expression by the activation of NF-κB and AP-1 transcription factors and controls transcript stability. The paracaspase MALT1 is the only CBM component having an enzymatic (proteolytic) activity and has therefore recently gained attention as a potential drug target. Here we review recent advances in the understanding of the molecular function of the protease MALT1 and summarize how MALT1 scaffold and protease function contribute to the transmission of CBM signals. Finally, we will highlight how dysregulation of MALT1 function can cause pathologies such as immunodeficiency, autoimmunity, psoriasis, and cancer.


Assuntos
Doenças Autoimunes/imunologia , Proteínas Adaptadoras de Sinalização CARD/imunologia , Imunodeficiência de Variável Comum/imunologia , Proteína de Translocação 1 do Linfoma de Tecido Linfoide Associado à Mucosa/imunologia , Proteínas de Neoplasias/imunologia , Neoplasias/imunologia , Transdução de Sinais/imunologia , Doenças Autoimunes/terapia , Imunodeficiência de Variável Comum/patologia , Imunodeficiência de Variável Comum/terapia , Humanos , NF-kappa B/imunologia , Neoplasias/patologia , Neoplasias/terapia , Fator de Transcrição AP-1/imunologia
11.
Immunotherapy ; 10(14): 1193-1202, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30088423

RESUMO

AIM: To assess the safety and efficacy of an intravenous immunoglobulin (IVIG) 10% preparation (Panzyga®; Octapharma AG, Lachen, Switzerland) in predominantly antibody-deficient children with primary immunodeficiency disease. METHODS: Data from two prospective, open-label and noncontrolled multicenter Phase III studies of IVIG 10% that included 25 patients <16 years of age were analyzed for efficacy, pharmacokinetics and safety. RESULTS: The rate of serious bacterial infections was 0.04/patient-year. A maximal infusion rate of 0.14 ml/kg/min was achieved in 82% of pediatric patients (n = 9). Infusions of immunoglobulin G trough levels between infusions remained ≥5-6 g/l; median half-life was 32.79-36.62 days. Abdominal pain, headache and chills were the most common treatment-related adverse events. CONCLUSION: IVIG 10% is safe and effective for the treatment of predominantly antibody-deficient children.


Assuntos
Agamaglobulinemia/terapia , Infecções Bacterianas/epidemiologia , Imunodeficiência de Variável Comum/terapia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Imunoglobulina G/uso terapêutico , Imunoglobulinas Intravenosas/uso terapêutico , Adolescente , Adulto , Agamaglobulinemia/epidemiologia , Idoso , Infecções Bacterianas/etiologia , Criança , Imunodeficiência de Variável Comum/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Estados Unidos/epidemiologia , Adulto Jovem
12.
Rinsho Ketsueki ; 59(3): 293-299, 2018.
Artigo em Japonês | MEDLINE | ID: mdl-29618687

RESUMO

Common variable immunodeficiency (CVID) is the most frequently diagnosed congenital immunodeficiency and is characterized by dysfunctional antibody production. It often occurs at the age of ≥10 years. Here we reported a case of a 46-year-old man confirmed with adult-onset CVID. He was effectively treated with cord blood transplant (CBT). The patient was observed with repeated upper respiratory infection a few years back and was referred to our department owing to a marked decrease in neutrophil counts and progression of anemia. Laboratory tests confirmed hypogammaglobulinemia, but no autoantibodies were detected. Bone marrow aspiration showed a hypocellular marrow with predominantly mature lymphocytes. T-cell receptor excision circle assay revealed a reduction in T-cell neogenesis. Further, multicolor flow cytometry analysis revealed a low differentiation of B cells; subsequently, CVID was confirmed in the patient. The patient had a severe clinical course and therefore, received CBT for the treatment. After the transplantation, the hematopoiesis was restored and the serum immunoglobulin levels returned to normal. The patient exhibited a favorable clinical course. Nevertheless, there is no precise definition to establish the disease concept of CVID. Also, most of the potential cases are predominantly reported in adults. Therefore, further data on cases with CVID should be accumulated to establish the diagnostic criteria as well as treatment modalities.


Assuntos
Agamaglobulinemia , Imunodeficiência de Variável Comum/terapia , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Linfócitos B/citologia , Humanos , Masculino , Pessoa de Meia-Idade , Linfócitos T/citologia
13.
J Allergy Clin Immunol ; 142(6): 1922-1931.e2, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29678747

RESUMO

BACKGROUND: A subgroup of patients with common variable immunodeficiencies (CVIDs) responds to vaccination. The aim of this study was to try to identify predictive markers for those with a humoral immune response after influenza vaccination. METHODS: Forty-eight patients with CVID (29 female and 19 male patients; mean age, 57.7 years) were vaccinated with the A(H1N1) influenza vaccine Pandemrix (GlaxoSmithKline, Wavre, Belgium) and boosted after 1 month. Blood samples were collected before each vaccination and 2 months later. Patients with a 4-fold titer increase in results on the hemagglutinin inhibition test (≥1:40) were considered responders and compared with nonresponders for clinical, immunologic, and genetic markers. RESULTS: Eight (16.7%) patients responded to the vaccination. A significantly higher proportion of the responders, who showed a EUROclass SmB-Trnorm21norm profile (P = .03) with a post-germinal center B-cell pattern (P = .04) in blood, experienced enteropathies (P = .04) compared with nonresponders. On the other hand, bronchiectasis was found exclusively among nonresponders (n = 7), as was autoimmune cytopenia (n = 5). Nonresponders with a EUROclass SmB-Trnorm21low profile (P = .02) had a significantly greater prevalence of progressive antibody deficiency (P = .048) and, at diagnosis, a higher mean serum IgM level (P = .03), lower mean serum IgG1 level (P = .007), expansion of absolute counts of cytotoxic CD8+ T cells (P = .033), and increased proportion of memory CD8+ T cells (P = .044) in blood. CVID-associated HLA markers were not detected in responders (P = .03). CONCLUSION: About one fifth of the patients with CVIDs achieved protective antibody levels after A(H1N1) vaccination and selected clinical, and immunologic markers were identified that might predict a positive outcome of influenza vaccination. Patients with CVID should be offered vaccination also against seasonal influenza because of the potential severity of the infection and risk for bacterial complications.


Assuntos
Imunodeficiência de Variável Comum/terapia , Vacinas contra Influenza/uso terapêutico , Influenza Humana/prevenção & controle , Adulto , Idoso , Anticorpos Antivirais/sangue , Biomarcadores , Linfócitos T CD8-Positivos/imunologia , Imunodeficiência de Variável Comum/sangue , Imunodeficiência de Variável Comum/imunologia , Citocinas/imunologia , Feminino , Hemaglutininas/imunologia , Humanos , Imunidade Humoral , Imunoglobulina G/sangue , Imunoglobulina M/sangue , Vírus da Influenza A Subtipo H1N1 , Leucócitos Mononucleares/imunologia , Masculino , Pessoa de Meia-Idade
14.
Iran J Immunol ; 15(1): 1-13, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29549228

RESUMO

BACKGROUND: Patients with unclassified hypogammaglobulinemia (UCH) constitute a diagnostic and therapeutic dilemma, because information concerning the clinical and immunological characteristics of these patients is insufficient. OBJECTIVE: To evaluate B-cell subsets in cases with UCH and common variable immunodeficiency (CVID) and their association with treatment requirement in UCH patients. METHODS: The study included 41 UCH, 25 CVID, and 36 healthy individuals between the ages of 4-18 years. RESULTS: The absolute count of total memory and switched memory B-cells were lower in the CVID cases in comparison to the control group. Additionally, the absolute count of marginal zone-like B cells in the 4-10 year age group, and the absolute count of switched plasmablasts in the 10-18 year age group were lower in CVID cases when compared to both the control and UCH groups. The UCH group was categorized based on IVIG replacement therapy. Therefore, the percentage of switched memory B cells was significantly lower in the IVIG-receiving group (10.6% ± 3.10%) compared to the control group (14.0% ± 5.60%). However, there was no significant difference between the IVIG-receiving group and the CVID group. Regarding the comparison of the non-IVIG replacement group and the CVID group, the absolute count of total memory B cells, marginal zone-like B cells, and switched memory B cells were significantly higher in the UCH group. CONCLUSION: B-lymphocyte subsets in UCH cases that did not require IVIG replacement were similar to the control group. On the other hand, the percentage of switched memory B-cells in the UCH cases that required IVIG replacement was not different from that of the CVID cases.


Assuntos
Agamaglobulinemia/imunologia , Subpopulações de Linfócitos B/imunologia , Linfócitos B/imunologia , Imunodeficiência de Variável Comum/imunologia , Adolescente , Agamaglobulinemia/terapia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/terapia , Feminino , Citometria de Fluxo , Humanos , Switching de Imunoglobulina , Imunoglobulinas Intravenosas/uso terapêutico , Memória Imunológica , Contagem de Linfócitos , Masculino
16.
Ann Allergy Asthma Immunol ; 120(2): 200-206, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29413345

RESUMO

BACKGROUND: In patients with humoral immunodeficiency, the progression of bronchiectasis has been known to occur despite adequate gammaglobulin therapy and in the absence of recurrent infections. This observation suggests that factors other than gammaglobulin replacement might play a part in the prevention of lung damage in this population. α1-Antitrypsin deficiency can be associated with bronchiectasis, a chronic inflammatory lung disease. The protective levels of α1-antitrypsin and phenotype in preventing bronchiectasis have not been thoroughly studied in the immunodeficient population. We hypothesized that patients with humoral immunodeficiencies on gammaglobulin infusions and bronchiectasis have lower median levels, but not necessary "classically" deficient levels, of α1-antitrypsin compared with those without bronchiectasis. OBJECTIVE: To compare levels of α1-antitrypsin in subjects with immunodeficiency with and without bronchiectasis. METHODS: One hundred ninety-two subjects with humoral immunodeficiencies requiring gammaglobulin therapy had their α1-antitrypsin levels and phenotype screened. High-resolution computed tomograms of the chest of participants were obtained and compared with α1-antitrypsin levels and phenotype. RESULTS: Participants without bronchiectasis were found to have higher median levels of α1-antitrypsin than those with bronchiectasis (P = .003). Furthermore, subjects with improving or resolved bronchiectasis since initiating gammaglobulin therapy had higher median levels of α1-antitrypsin than those with worsening bronchiectasis (P = .004). The prevalence of the α1-antitrypsin PiZZ mutation was higher than in the general public (P < .0001). CONCLUSION: Median α1-antitrypsin levels and phenotype in subjects were associated with humoral immunodeficiency and their bronchiectasis status. Prospective studies might be necessary to determine possible benefits of augmentation therapy. This study supports the idea that what is considered a "normal or protective" α1-antitrypsin range might need to be refined for patients with humoral immunodeficiency on gammaglobulin therapy.


Assuntos
Bronquiectasia/metabolismo , Imunodeficiência de Variável Comum/metabolismo , Genótipo , Imunoglobulina G/uso terapêutico , alfa 1-Antitripsina/sangue , Idoso , Idoso de 80 Anos ou mais , Bronquiectasia/complicações , Bronquiectasia/terapia , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/terapia , Progressão da Doença , Feminino , Humanos , Imunidade Humoral/genética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , alfa 1-Antitripsina/genética
19.
Clin Rev Allergy Immunol ; 55(3): 340-351, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28785926

RESUMO

Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by remarkable hypogammaglobulinemia. The disease can develop at any age without gender predominance. The prevalence of CVID varies widely worldwide. The underlying causes of CVID remain largely unknown; primary B-cell dysfunctions, defects in T cells and antigen-presenting cells are involved. Although some monogenetic defects have been identified in some CVID patients, it is likely that CVID is polygenic. Patients with CVID develop recurrent and chronic infections (e.g., bacterial infections of the respiratory or gastrointestinal tract), autoimmune diseases, lymphoproliferation, malignancies, and granulomatous lesions. Interestingly, autoimmunity can be the only clinical manifestation of CVID at the time of diagnosis and may even develop prior to hypogammaglobulinemia. The diagnosis of CVID is largely based on the criteria established by European Society for Immunodeficiencies and Pan-American Group for Immunodeficiency (ESID/PAGID) and with some recent modifications. The disease can affect multiple organs, including the liver. Clinical features of CVID patients with liver involvement include abnormal liver biochemistries, primarily elevation of alkaline phosphatase (ALP), nodular regenerative hyperplasia (NRH), or liver cirrhosis and its complications. Replacement therapy with immunoglobulin (Ig) and anti-infection therapy are the primary treatment regimen for CVID patients. No specific therapy for liver involvement of CVID is currently available, and liver transplantation is an option only in select cases. The prognosis of CVID varies widely. Further understanding in the etiology and pathophysiology will facilitate early diagnosis and treatments to improve prognosis.


Assuntos
Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Fígado/patologia , Células Apresentadoras de Antígenos/imunologia , Células Apresentadoras de Antígenos/metabolismo , Autoimunidade , Linfócitos B/imunologia , Linfócitos B/metabolismo , Terapia Combinada , Imunodeficiência de Variável Comum/epidemiologia , Imunodeficiência de Variável Comum/etiologia , Diagnóstico Diferencial , Suscetibilidade a Doenças , Humanos , Fígado/imunologia , Fígado/metabolismo , Prognóstico , Avaliação de Sintomas , Linfócitos T/imunologia , Linfócitos T/metabolismo
20.
Rev Alerg Mex ; 64(4): 452-462, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-29249107

RESUMO

Primary immunodeficiencies (PIDs) are low-incidence diseases caused by defects in genes involved in the development, maintenance, and regulation of the immune system. Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency of adulthood. It has an approximate prevalence of 1 in 25 000-50 000 in the general population, with a delay in diagnosis between 6-7 years. The clinical manifestations of CVID constitute six main categories: infections, pulmonary complications, granulomatous or polyclonal lymphocytic disease, autoimmunity, gastrointestinal diseases and malignancy Most patients must have at least one of the following clinical manifestations (infection, autoimmunity, lymphoproliferation). However, the diagnosis of CVID can be conferred in asymptomatic patients, especially in familial cases. Secondary causes of hypogammaglobulinemia should be ruled out in any patient meeting the diagnostic criteria for CVID, as the treatment may be totally different from that required for CVID. Because CVID comprises a heterogeneous group of syndromes with poor primary antibody production, the potential number of entities within this group is unknown. Patients with CVID suffer from various complications that are considered prognostic. In the absence of clear guidelines for their search, it is recommended that lymphoproliferative disease, lung disease, liver disease and autoimmunity be investigated intentionally during the initial evaluation. The intervals in which they should be performed are not clear, but several evaluations may be required per year, according to the clinical evolution of the patient.


Assuntos
Imunodeficiência de Variável Comum , Adulto , Algoritmos , Imunodeficiência de Variável Comum/classificação , Imunodeficiência de Variável Comum/complicações , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/terapia , Humanos
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