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1.
Allergol. immunopatol ; 44(4): 331-340, jul.-ago. 2016. tab, graf
Artigo em Inglês | IBECS | ID: ibc-154435

RESUMO

Background: The objective of this study was to examine the B lymphocyte subsets in primary immunodeficiency that progress with antibody deficiency. Methods: The patients’ naive, memory, class-switched memory and non-switched memory B cells were compared with those of healthy individuals of matching ages using flow cytometry. Results: A total of 67 patients with antibody deficiency and 28 healthy children of matching ages were included in the study. The median age of the patients was six years (min–max: 1–24) and 40 (59.7%) were male. The median age of the healthy controls was again six years (min–max: 1–17) and 12 (42.8%) were male. Patients with common variable immunodeficiency had higher relative counts of naive cells when compared with the control group; however, they were found to have lower relative counts of memory, relative and absolute counts of non-switched and relative counts of switched B lymphocytes (p=0.001, 0.023, 0.003–0.003, 0.001, respectively). In patients with selective IgA deficiency, similar to patients with common variable immunodeficiency, the relative counts of naive cells were found to be higher, while the relative counts of memory and relative and absolute counts of non-switched B lymphocytes were found to be lower when compared with the control group (p=0.011, 0.032, 0.006–0.009, respectively). Although patients with selective IgM deficiency had higher relative counts of naive B cells when compared with the control group, they had lower relative and absolute counts of non-switched B lymphocytes (p=0.008–0.016). Conclusions: The B lymphocyte subsets of patients with selective IgA deficiency are largely similar to those of patients with common variable immunodeficiency. Both illness groups exhibit low levels of memory B cells (AU)


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Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/imunologia , Imunoglobulina G/análise , Imunoglobulina G/imunologia , Antígenos de Diferenciação de Linfócitos B/análise , Antígenos de Diferenciação de Linfócitos B/imunologia , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/análise , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/imunologia , Agamaglobulinemia/etiologia , Agamaglobulinemia/imunologia , Agamaglobulinemia/patologia , Deficiência de IgA/etiologia , Deficiência de IgA/imunologia , Deficiência de IgA/patologia
2.
Mol Immunol ; 71: 1-9, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26795881

RESUMO

Common variable immunodeficiency (CVID) and selective IgA deficiency (SIgAD) are the most common primary immunodeficiencies in human. Both diseases share clinical manifestation and molecular defects. Increased apoptosis may be one of the mechanisms involved in the pathogenesis of CVID and SIgAD. Elevated apoptosis in this disorder leads to defective long-term survival of B-cells, reduced antibody production, decreased lymphocyte proliferation and defective cytokine secretion. For the first time, we reviewed the role of apoptosis in CVID and SIgAD.


Assuntos
Apoptose/imunologia , Subpopulações de Linfócitos B/patologia , Imunodeficiência de Variável Comum/imunologia , Deficiência de IgA/imunologia , Subpopulações de Linfócitos T/patologia , Subpopulações de Linfócitos B/imunologia , Imunodeficiência de Variável Comum/patologia , Humanos , Deficiência de IgA/patologia , Subpopulações de Linfócitos T/imunologia
3.
Expert Rev Clin Immunol ; 11(11): 1245-54, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26306496

RESUMO

Selective immunoglobulin A deficiency (SIgAD) is the most common predominantly antibody deficiency, with a wide range of presentations from asymptomatic to severe manifestations. Although many studies have investigated different aspects of SIgAD, no study has yet presented a comprehensive classification of this disease. Based on clinical manifestation of patients and various immune abnormalities associated with SIgAD, this group of patients could be classified into five different phenotypes including asymptomatic, minor infectious, allergic, autoimmune and severe phenotypes. This classification aids physicians in identifying patients and in choosing appropriate management and treatment as well as homogenized groups for molecular and genetic studies.


Assuntos
Deficiência de IgA/classificação , Deficiência de IgA/imunologia , Fenótipo , Humanos , Deficiência de IgA/patologia
4.
Int J Hematol ; 101(3): 305-13, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25589397

RESUMO

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in Bruton's tyrosine kinase (BTK), and is characterized by markedly decreased numbers of blood B cells and an absence of all immunoglobulin isotypes. We performed whole exome sequencing in a male pediatric patient with dysgammaglobulinemia with IgA deficiency. Genetic analysis revealed a BTK missense mutation (Thr316Ala). To investigate whether a BTK mutation underlay this antibody deficiency with marked decrease of IgA in this patient, we performed functional analyses of B cells and phagocytes, and molecular analyses of somatic hypermutation and class switch recombination. The BTK missense mutation resulted in B cells with reduced BTK and high IgM expression. Equal proportions of CD19(low) and CD19(normal) fractions were observed, and both included naïve and memory B cells. Calcium influx and phospholipase Cγ2 phosphorylation upon IgM stimulation were marginally impaired in CD19(low), but not in CD19(+) B cells. Similar to XLA patients, IgA transcripts showed low SHM levels, whereas IgG transcripts were hardly affected. Our analyses suggest that the BTK mutation likely underlies the disease in this case, and that hypomorphic BTK mutations can result in normal circulating B cell numbers, but specifically impair IgA responses.


Assuntos
Agamaglobulinemia/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Deficiência de IgA/genética , Imunoglobulina A/genética , Mutação de Sentido Incorreto , Proteínas Tirosina Quinases/genética , Tirosina Quinase da Agamaglobulinemia , Agamaglobulinemia/patologia , Linfócitos B/metabolismo , Linfócitos B/patologia , Pré-Escolar , Exoma , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Humanos , Deficiência de IgA/patologia , Masculino , Neutrófilos/metabolismo , Neutrófilos/patologia , Transdução de Sinais
5.
J Clin Immunol ; 34(4): 444-51, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24584841

RESUMO

PURPOSE: To examine autoimmune disorders in patients with IgA deficiency compared with the general population. METHODS: Nationwide prospective population-based cohort study. Through six university hospitals in Sweden we identified 2100 individuals with IgA deficiency (IgA levels < .07 g/L) diagnosed between 1980 and 2011. Each patient with IgA deficiency was matched on age, sex, place of residence, and year of diagnosis with up to 10 general population controls (n = 18,653). Data on nine autoimmune disorders were retrieved from the Swedish National Patient Register (including inpatient and non-primary outpatient care). Autoimmune disorders were defined as having at least two visits listing the relevant international classification of disease (ICD) code as main diagnosis. Prevalences and prevalence ratios (PRs) were calculated. RESULTS: Individuals with IgA deficiency more often had celiac disease (6.7 % vs. 0.19 % in controls) and type 1 diabetes (5.9 % vs. 0.57 %) corresponding to a 35-fold higher PR for celiac disease and 10-fold higher for type 1 diabetes. Also for the other autoimmune diseases did we see statistically significantly elevated prevalences and PRs (juvenile idiopathic arthritis (0.76 % vs. 0.09 % in controls, PR = 8.9), systemic lupus erythematosus (0.57 % vs. 0.06 %; PR = 8.9), inflammatory bowel disease (3.9 % vs. 0.81 %; PR = 5.0; specifically Crohn's disease (2.4 % vs. 0.42 %; PR = 5.7) and ulcerative colitis (1.7 % vs. 0.46 %; PR = 3.9)), hypothyreosis (0.76 % vs. 0.16 %; PR = 4.6), rheumatoid arthritis (2.2 % vs. 0.50 %; PR = 4.5), and hyperthyreosis (1.7 % vs. 0.43 %; PR = 3.9), but not with myasthenia gravis (0.05 % vs. 0.02 %; PR = 3.0). CONCLUSIONS: Individuals with IgA deficiency have a higher prevalence of several other autoimmune disorders.


Assuntos
Doenças Autoimunes/epidemiologia , Deficiência de IgA/epidemiologia , Sistema de Registros , Adolescente , Adulto , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Doenças Autoimunes/patologia , Estudos de Casos e Controles , Criança , Feminino , Humanos , Deficiência de IgA/complicações , Deficiência de IgA/imunologia , Deficiência de IgA/patologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Suécia/epidemiologia
6.
J Am Assoc Nurse Pract ; 26(5): 268-72, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24170561

RESUMO

PURPOSE: To provide nurse practitioners (NPs) with an overview of the physiology, pathophysiology, associated diseases clinical implications for blood transfusions for patients with immunoglobulin A deficiency (IgAD). DATA SOURCES: A review of the scientific literature was performed on IgAD using PubMed, Medline, and CINAHL. The case study of a patient with IgAD going for cardiac surgery is used to integrate this knowledge into clinical practice. CONCLUSIONS: IgAD is being identified in asymptomatic people through screening for numerous conditions. NPs receiving results on their patients may not fully comprehend the significance of IgAD. IMPLICATIONS FOR PRACTICE: Knowledge of the underlying physiology and pathophysiology of IgAD enables the NP to obtain an accurate and comprehensive patient assessment, establish differential diagnoses, and manage issues related to potential associated conditions as well as potential blood transfusion risks.


Assuntos
Deficiência de IgA/complicações , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Contraindicações , Humanos , Deficiência de IgA/diagnóstico , Deficiência de IgA/patologia , Deficiência de IgA/terapia , Masculino , Pessoa de Meia-Idade , Reação Transfusional
7.
Autoimmun Rev ; 13(2): 163-77, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24157629

RESUMO

IgA is the most abundant immunoglobulin in the human body, and performs a very specialized role which involves mucosal immunity, development of tolerance and protection against infection. IgA is the key immunoglobulin in the respiratory and gastrointestinal tracts, which provide the most intimate interface between the environment and self. Normal levels of IgA are based on early studies consisting of only small numbers of patients. The international consensus definition of IgA deficiency is a level of 0.07g/l after the age of four years in the absence of IgG and IgM deficiencies. The epidemiology of IgA deficiency reveals interesting variances between geographical regions - the incidence in Caucasians being much higher than that in Asians. IgA deficiency has also been found to co-exist with autoimmune diseases, allergies and malignancies. The association with autoimmunity is particularly interesting because it suggests a common genetic linkage that could potentially also explain the diversity in geoepidemiology. Both MHC and non-MHC associations have been described and the 8.1 haplotype has been significantly associated with autoimmunity in IgA deficiency patients over controls. Non-MHC genetic associations include IFIH1 and CLEC16A. The mutations leading to IgA deficiency have not been defined, but in some cases of IgA deficiency it has been suggested that the pathogenesis involves a failure in switched memory B cells that can lead to this cohort experiencing an increased incidence of recurrent bacterial infections or autoimmune diseases. Attempts to investigate the role of cytokines that can induce IgA synthesis in cells of patients with IgA deficiency, such as IL21 or the combination of CD40L/anti-CD40, IL-4 and IL10, are underway.


Assuntos
Doenças Autoimunes/imunologia , Deficiência de IgA/imunologia , Animais , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/genética , Doenças Autoimunes/patologia , Autoimunidade , Linfócitos B/imunologia , Linfócitos B/patologia , Humanos , Deficiência de IgA/epidemiologia , Deficiência de IgA/patologia , Deficiência de IgA/fisiopatologia , Imunidade nas Mucosas , Imunoglobulina A/química , Imunoglobulina A/imunologia
8.
J Cutan Pathol ; 40(12): 1035-41, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24274426

RESUMO

Multiple lymphoma subtypes occurring within one patient is rare in the context of B-cell lymphoma, and only few such cases have been reported in association with primary cutaneous marginal zone lymphoma (PCMZL). We herein describe the case of a 43-year-old patient who was diagnosed with PCMZL and subsequently developed a clonally unrelated nodal marginal zone lymphoma (MZL). At the time of diagnosis of PCMZL, multiple skin lesions were present. The atypical lymphoid infiltrate showed monotypic expression of immunoglobulin light chain lambda and heavy chain (IgM) on immunohistochemistry and an identical B-cell clone. No sign of systemic lymphoma was present in staging examinations. Complete remission was achieved utilizing rituximab. After a 3-year clinical course of repetitive cutaneous relapses and remissions, the patient additionally developed nodal lymphoma involvement by MZL which, however, harbored an immunophenotype and a genetic clone distinct from the cutaneous lymphoma counterpart. Therefore, the rare occurrence of two different types of MZL with sequential evolution was diagnosed. In this uncommon case, we hypothesize that selective immunoglobulin A deficiency may play a promoting role for the metachronous development of the two MZL that occurred in our patient.


Assuntos
Deficiência de IgA/patologia , Linfoma de Zona Marginal Tipo Células B/patologia , Neoplasias Cutâneas/patologia , Adulto , Feminino , Humanos , Deficiência de IgA/complicações , Deficiência de IgA/metabolismo , Deficiência de IgA/terapia , Linfoma de Zona Marginal Tipo Células B/metabolismo , Linfoma de Zona Marginal Tipo Células B/terapia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/terapia
9.
J Investig Allergol Clin Immunol ; 23(2): 94-100, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23654075

RESUMO

BACKGROUND: The pathogenesis of some primary humoral immunodeficiencies, such as transient hypogammaglobulinemia of infancy (THI) and immunoglobulin (Ig) A deficiency, remains unknown and can render diagnosis problematic. OBJECTIVE: In the present study, we used flow cytometry to analyze peripheral blood B-cell subsets in patients with THI and unclassified hypogammaglobulinemia (UCH), partial IgA deficiency, and selective IgM deficiency. METHODS: The study population comprised 41 patients with hypogammaglobulinemia (THI, 18; UCH, 23), 16 patients with partial IgA deficiency, and 16 patients with selective IgM deficiency who were admitted to Ankara University Department of Pediatric Immunology-Allergy between January 2010 and April 2011, as well as 29 healthy controls. B-cell subsets were examined according to the EUROclass classification. RESULTS: Age at diagnosis in the hypogammaglobulinemia group ranged between-14 months and 13 years (median, 26 months). Naive B-cell percentages were significantly higher and activated B-cell values lower in the THI patients than in the UCH patients and age-matched healthy controls. Nonswitched (IgM+CD27+IgD+) memory B-cell values were found to be significantly lower in patients with selective IgM deficiency than in healthy controls. No significant differences in B-cell subsets were found in patients with partial IgA deficiency. CONCLUSIONS: Previous reports show that reduced class-switched memory B cell values are associated with CVID, THI, and selective IgA deficiency. Our findings did not support these reports. Furthermore, we observed that naive B cell values were higher in patients with THI. A maturation defect could play a role in the pathogenesis of THI.


Assuntos
Agamaglobulinemia/imunologia , Subpopulações de Linfócitos B/imunologia , Deficiência de IgA/imunologia , Imunoglobulina A/imunologia , Imunoglobulina M/imunologia , Adolescente , Agamaglobulinemia/genética , Agamaglobulinemia/patologia , Subpopulações de Linfócitos B/patologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Expressão Gênica , Humanos , Deficiência de IgA/genética , Deficiência de IgA/patologia , Imunoglobulina A/genética , Switching de Imunoglobulina , Imunoglobulina D/genética , Imunoglobulina D/imunologia , Imunoglobulina M/deficiência , Imunoglobulina M/genética , Memória Imunológica , Lactente , Masculino
10.
Diabet Med ; 30(7): 840-5, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23461783

RESUMO

AIMS: Immunoglobulin A (IgA) measurement is advocated when case finding for coeliac disease in patients with Type 1 diabetes mellitus. Currently, there is a paucity of contemporary studies assessing IgA deficiency in Type 1 diabetes. This study evaluates the prevalence of IgA deficiency in individuals with Type 1 diabetes, compared with patients with coeliac disease and control subjects. In addition, we evaluate whether routine IgA measurement is justifiable when case finding for coeliac disease in patients with Type 1 diabetes. METHODS: All patients were assessed using IgA endomysial antibodies, IgA anti-tissue transglutaminase antibodies and total IgA levels. Altogether, 2434 individuals were tested: 1000 patients with Type 1 diabetes, 234 patients with coeliac disease and 1200 population control subjects. Definitive IgA deficiency was defined as total IgA levels < 0.07 g/l. RESULTS: The prevalence of IgA deficiency was significantly more common in patients with Type 1 diabetes (0.9%, n = 9/1000; P = 0.036) and coeliac disease (1.29%, n = 3/234; P = 0.041) when compared with population control subjects (prevalence of 0.17%, 2/1200). No statistical difference between Type 1 diabetes and coeliac disease for IgA deficiency was identified (P = 0.87). Of patients in the group with Type 1 diabetes, 3.3% (33/1000) had coeliac disease, and of those only one patient had IgA deficiency leading to an antibody-negative presentation. Both IgA-deficient individuals within the population control subjects had normal duodenal biopsies and no relevant symptoms. CONCLUSIONS: IgA deficiency is more common in Type 1 diabetes compared with population control subjects. Despite this, very few individuals with Type 1 diabetes and IgA deficiency appear to have villous atrophy on biopsy. These outcomes question the practice of routine IgA measurement when case finding for coeliac disease in patients with Type 1 diabetes.


Assuntos
Doença Celíaca/diagnóstico , Diabetes Mellitus Tipo 1/imunologia , Deficiência de IgA/diagnóstico , Imunoglobulina A/sangue , Adulto , Doença Celíaca/imunologia , Doença Celíaca/patologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/patologia , Duodeno/patologia , Feminino , Gliadina/imunologia , Humanos , Deficiência de IgA/epidemiologia , Deficiência de IgA/patologia , Masculino , Pessoa de Meia-Idade , Transglutaminases/imunologia
11.
Int Arch Allergy Immunol ; 160(2): 208-14, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23018812

RESUMO

BACKGROUND: Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency disorder, which is characterized by significantly decreased serum levels of IgA. Abnormalities of CD4+CD25(high)forkhead box P3 (FoxP3)+ regulatory T cells (T(reg)) have been shown in association with autoimmune and inflammatory disorders. METHODS: In order to evaluate the relationship between autoimmunity and T(reg) in SIgAD, we studied 26 IgA-deficient patients (aged 4-17 years) with serum IgA levels <7 mg/dl, 26 age- and sex-matched healthy controls and 26 age- and sex matched idiopathic thrombocytopenic purpura cases with normal immune system. T(reg) were determined by flow cytometry using T(reg) markers, including CD4, CD25 and FoxP3. RESULTS: The mean percentage of CD4, CD25+FoxP3+ T(reg) from all CD4+ cells was 4.08 ± 0.86 in healthy controls, which was significantly higher than in SIgAD patients (2.93 ± 1.3; p = 0.003). We set a cutoff point (2.36%) for T(reg), which was two standard deviations lower than the mean of normal controls. According to this cutoff point and in order to assess the role of T(reg) in clinical SIgAD manifestation, we classified patients into two groups: 16 patients in G1 with T(reg) <2.36% and 10 patients in G2 with T(reg) >2.36%. Autoimmunity was recorded in 9 patients (53.3%) of G1 and only 1 patient of G2, respectively (p = 0.034). Although a defect in class switching recombination was observed in 40% of the patients in G1, none of the G2 patients had such a defect (p = 0.028). CONCLUSION: This study showed decreased proportions of T(reg) in SIgAD patients, particularly in those with signs of chronic inflammation.


Assuntos
Deficiência de IgA/imunologia , Linfócitos T Reguladores/imunologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Deficiência de IgA/patologia , Masculino , Subpopulações de Linfócitos T/imunologia , Subpopulações de Linfócitos T/patologia , Linfócitos T Reguladores/patologia
12.
Lik Sprava ; (4): 119-22, 2013 Jun.
Artigo em Ucraniano | MEDLINE | ID: mdl-25095697

RESUMO

It was set by us, that at intensifying of herpetic stomatititis of mucous membrane of oral cavity for patients the deficit of lysozyme and antibodies of class is marked A in the mixed saliva. At what the degree of expressed of the exposed violations of local immunity correlated with frequency of relapses of viral infection and its duration.


Assuntos
Deficiência de IgA/patologia , Imunidade nas Mucosas , Mucosa Bucal/imunologia , Muramidase/deficiência , Estomatite Herpética/imunologia , Adulto , Feminino , Humanos , Deficiência de IgA/enzimologia , Deficiência de IgA/virologia , Imunoglobulina A/metabolismo , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/enzimologia , Mucosa Bucal/patologia , Mucosa Bucal/virologia , Recidiva , Saliva/química , Índice de Gravidade de Doença , Simplexvirus , Estomatite Herpética/enzimologia , Estomatite Herpética/patologia , Estomatite Herpética/virologia
13.
Mod Rheumatol ; 21(2): 197-202, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20878343

RESUMO

A 43-year-old woman with systemic sclerosis (SSc) developed IgA deficiency (IgAD) after cholecystitis. The severe decrease of IgA (<10 mg/dl) partially recovered after 5 years. She had repeated episodes of infection during IgAD. Anti-IgA antibody was not detected. Flow cytometric analysis showed that peripheral CD19(+)IgA(+) and CD38(+)IgA(+) cells were normally present. Although the mechanism of secondary IgAD is still vague, its association with autoimmune diseases including SSc and also with bacterial infection is discussed.


Assuntos
Colecistite/complicações , Infecções por Bactérias Gram-Negativas/complicações , Deficiência de IgA/imunologia , Escleroderma Sistêmico/imunologia , Adulto , Feminino , Citometria de Fluxo , Infecções por Bactérias Gram-Negativas/sangue , Infecções por Bactérias Gram-Negativas/patologia , Humanos , Deficiência de IgA/patologia , Imunoglobulina A/sangue , Recuperação de Função Fisiológica , Escleroderma Sistêmico/sangue , Escleroderma Sistêmico/patologia
14.
Clin Exp Immunol ; 160(2): 199-206, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20030673

RESUMO

The diagnosis of coeliac disease (CD) represents a special challenge in selective immunoglobulin (Ig)A deficiency (IgAD). A high density of T cell receptor (TCR)gammadelta(+) intraepithelial lymphocytes (IELs) and intestinal IgA anti-tissue transglutaminase 2 (anti-TG2) antibody deposits are suggestive of CD. We analysed the density of TCRgammadelta(+) IELs and the deposition of IgM anti-TG2 antibodies in the jejunal mucosa of IgAD patients with and without CD. Immunohistochemical analyses for the number of CD3+ and TCRgammadelta(+) IELs and double immunofluorescence assay for IgM anti-TG2 antibody deposits were performed in biopsies from 25 children with IgAD (nine untreated CD, seven potential CD and nine without CD). Sixteen immunologically intact children without CD represented the controls. IgAD without CD had a higher number of CD3+ and TCRgammadelta(+) IELs than controls (P < 0.05), but lower than IgAD with CD (P < 0.01). No significant differences were noted between IgAD subjects without CD and those with potential CD. Furthermore, IgAD patients without CD showed a higher TCRgammadelta(+)/CD3+ ratio than the control group (P < 0.05), while the ratio was similar to subjects with CD and potential CD. Intestinal IgM anti-TG2 antibody deposits were present in six of seven of the IgAD patients with untreated CD, one of seven with potential CD and none of those without CD. Most of the patients with IgAD show immune activation in the jejunal mucosa. IgM anti-TG2 antibody deposits are present only in CD. Intestinal IgM anti-TG2 and immunohistochemical markers do not discriminate between IgAD and potential CD with IgAD. Therefore, the serum IgG CD-associated autoantibodies remains very important for the diagnosis of CD in IgAD.


Assuntos
Autoanticorpos/análise , Autoantígenos/imunologia , Doença Celíaca/imunologia , Deficiência de IgA/imunologia , Imunoglobulina M/análise , Jejuno/imunologia , Receptores de Antígenos de Linfócitos T gama-delta/análise , Subpopulações de Linfócitos T/patologia , Transglutaminases/imunologia , Autoanticorpos/imunologia , Biópsia , Doença Celíaca/diagnóstico , Doença Celíaca/etiologia , Doença Celíaca/patologia , Criança , Pré-Escolar , Epitélio/imunologia , Epitélio/patologia , Feminino , Proteínas de Ligação ao GTP , Antígenos HLA-DR/análise , Humanos , Deficiência de IgA/complicações , Deficiência de IgA/patologia , Imunoglobulina M/imunologia , Lactente , Mucosa Intestinal/imunologia , Mucosa Intestinal/patologia , Jejuno/patologia , Masculino , Subpopulações de Linfócitos T/imunologia , Adulto Jovem
15.
Pathol Res Pract ; 205(12): 876-80, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19286327

RESUMO

Selective IgA deficiency is the most common primary immunoglobulin deficiency. The clinical manifestations of selective IgA deficiency, including gastrointestinal (GI) complications, are rare and typically milder than those seen with common variable immunodeficiency or X-linked agammaglobulinemia. We present a rare case of selective IgA deficiency that shows a number of interesting histological features in the GI tract, including diffuse nodular lymphoid hyperplasia involving the entire small and large intestine, celiac disease-like and collagenous sprue-like changes in the small intestine, as well as lymphocytic colitis pattern. However, this patient had no particular GI symptoms suggestive of celiac sprue or microscopic colitis. These findings suggest that the GI tract in patients with selective IgA deficiency can show peculiar histologic changes that mimic celiac disease, collagenous sprue, or lymphocytic colitis, which may be a pattern of injury related to infection or immunoglobulin immunodeficiency-associated autoimmune phenomena.


Assuntos
Doença Celíaca/diagnóstico , Colite Linfocítica/diagnóstico , Deficiência de IgA/diagnóstico , Intestinos/patologia , Transtornos Linfoproliferativos/etiologia , Adulto , Biópsia , Doença Celíaca/patologia , Colite Linfocítica/patologia , Diagnóstico Diferencial , Endoscopia Gastrointestinal , Feminino , Humanos , Hiperplasia , Deficiência de IgA/complicações , Deficiência de IgA/patologia , Mucosa Intestinal/patologia , Transtornos Linfoproliferativos/patologia
17.
J Cutan Pathol ; 35(9): 871-5, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18494827

RESUMO

Selective immunoglobulin A deficiency (IgAD) is a primary immunodeficiency disease characterized by low levels (< 7 mg/dl) of serum immunoglobulin (Ig) A and normal serum levels of IgG and IgM. Patients with IgAD have increased risk for recurrent respiratory and gastrointestinal infections, autoimmune disease, asthma and allergy. A 26-year-old woman was admitted with sudden onset of painful cutaneous lesions on her lower extremities, pyrexia and arthromyalgia. Her medical history was remarkable for recurrent respiratory tract infections, self-limited episodes of acute diarrhea, atopy, splenomegaly and a 4-year history of a lung granulomatous lesion. Laboratory and imaging tests ruled out severe life-threatening infection, connective tissue disease and neoplasm. Serum protein electrophoresis showed a low IgA serum level (6.67 mg/dl), with normal serum levels of IgG and IgM, conducting to a diagnosis of selective IgAD. A skin biopsy showed necrotizing vasculitis without any sign of internal organ disease. We report a patient with IgAD and granulomatous involvement of lungs, spleen and medium-sized arteries of the skin. Although IgAD results from a failure of B-cell differentiation, we propose that deregulated immune response with production of cross-reactive antibodies and hyperstimulation of T cells and macrophages could contribute to this widespread granulomatous reaction.


Assuntos
Deficiência de IgA/patologia , Poliarterite Nodosa/patologia , Pele/patologia , Adulto , Anti-Inflamatórios não Esteroides/uso terapêutico , Artérias/patologia , Feminino , Granuloma do Sistema Respiratório/complicações , Granuloma do Sistema Respiratório/patologia , Humanos , Deficiência de IgA/complicações , Deficiência de IgA/tratamento farmacológico , Imunoglobulina A/sangue , Pneumopatias/complicações , Pneumopatias/patologia , Necrose , Poliarterite Nodosa/complicações , Poliarterite Nodosa/tratamento farmacológico , Pele/irrigação sanguínea
18.
Ann Clin Biochem ; 44(Pt 2): 131-9, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17362578

RESUMO

IgA deficiency is the most common primary immunoglobulin deficiency. The prevalence in Caucasians is around one in 500, whereas in some Asian populations it is very uncommon. Most individuals with IgA deficiency are clinically asymptomatic. Those with symptoms of immunodeficiency have predominantly sinopulmonary or gastrointestinal infections, which are more severe when associated with IgG2, IgG4 or specific antibody deficiency. IgA deficiency is believed to be one end of a spectrum of immunodeficiency with common variable immunodeficiency at the most severe end. Although primary IgA deficiency is the most commonly encountered form, secondary deficiencies due to drugs or viral infections are recognized. IgA deficiencies can be partial or transient. Primary IgA deficiency is caused by a defect of terminal lymphocyte differentiation, which leads to underproduction of serum and mucosal IgA; affected individuals have normal IgA genes. A number of non-immunoglobulin genes have been implicated in IgA deficiency. There have been many diseases reported in association with IgA deficiency, particularly autoimmune diseases. The most common association is with coeliac disease (CD), which has special significance since CD is usually diagnosed by detection of specific IgA antibodies that are obviously lacking in IgA deficiency. There is no specific treatment for patients with symptomatic IgA deficiency. Antibiotics are prescribed in those with acute infections. A significant proportion of IgA-deficient individuals are reported to have anti-IgA antibodies in their serum. Although blood or blood products given to IgA-deficient individuals can lead to severe, even fatal, transfusion reactions, such reactions are rare.


Assuntos
Deficiência de IgA/patologia , Imunoglobulina A/imunologia , Doenças Autoimunes/imunologia , Doenças Autoimunes/metabolismo , Doença Celíaca/complicações , Doença Celíaca/imunologia , Doença Celíaca/metabolismo , Humanos , Hipersensibilidade/imunologia , Hipersensibilidade/metabolismo , Deficiência de IgA/complicações , Deficiência de IgA/metabolismo
19.
Pathol Int ; 57(1): 37-42, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17199741

RESUMO

A combined chromosomal abberation trisomy of the short arm of chromosome 10 associated with translocation of 10q to chromosome 4p was found in a 14-month-old boy, who died after repeated bouts of pneumonia. The translocation involved the target region 4p16.3 of Wolf-Hirschhorn syndrome and/or Pitt-Rogers-Danks syndrome. The karyotype was 46,XY,der(4)t(4;10)(p16;q11.2),i(10)(p10),ish der(4)t(4;10)(p16.3;q11.2) (D4S96+,D4Z1+),i(10) (pter ++). In addition to growth retardation and external as well as internal dysmorphism, the patient had abnormalities of the immune system, such as thymic involution, generalized lymph node enlargement, unusual distribution of T cells in lymphoid follicles, and selective IgA deficiency. The IgA-producing cells were rarely found in lymph nodes but normally in intestinal mucosa. In contrast, in the lymph nodes, the paracortical T-lymphocytes were hyperplastic, but they rarely entered the primary follicles. It is assumed that the chromosomal abnormality may lead to the dysfunction of T lymphocytes and, further, to the dysgenesis of IgA-producing cells in lymph nodes but not in intestinal mucosa. This suggests that the thymus may differentially control the subsets of IgA-producing cells in lymph nodes and intestinal mucosa.


Assuntos
Cromossomos Humanos Par 10/genética , Imunoglobulina A/metabolismo , Tecido Linfoide/patologia , Linfócitos T/metabolismo , Linfócitos T/patologia , Translocação Genética/genética , Trissomia/genética , Autopsia , Humanos , Deficiência de IgA/diagnóstico , Deficiência de IgA/metabolismo , Deficiência de IgA/patologia , Lactente , Mucosa Intestinal/imunologia , Mucosa Intestinal/patologia , Tecido Linfoide/metabolismo , Masculino , Fenótipo , Trissomia/diagnóstico
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