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 , MasculinoRESUMO
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to infections caused by weakly virulent mycobacteria, such as those in bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. Salmonellosis has been reported in almost half of affected patients. Patients are also vulnerable to Mycobacterium tuberculosis infection. Several other infectious diseases may occur, albeit rarely. Mucocutaneous candidiasis is more common. Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is the most frequent genetic cause of MSMD. Here, we describe an infant with a single episode of BCG lymphadenitis who also suffered from recurrent oral candidiasis. Genetic analysis revealed a new homozygous mutation (64+1G>T) in the IL12RB1 gene that caused complete IL-12R1beta1 deficiency. IL-12Rbeta1 deficiency should be considered in patients with BCG infection, even in those who experience a single episode of BCG lymphadenitis or recurrent mucocutaneous candidiasis. Every attempt should be made to heighten awareness in countries where BCG vaccination is performed.
Assuntos
Anormalidades Múltiplas/induzido quimicamente , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/imunologia , Vacina BCG/efeitos adversos , Mycobacterium bovis/imunologia , Receptores de Interleucina-12/metabolismo , Tuberculose/prevenção & controle , Anormalidades Múltiplas/fisiopatologia , Biópsia , Candidíase , Análise Mutacional de DNA , Predisposição Genética para Doença , Humanos , Lactente , Linfadenite , Masculino , Mycobacterium bovis/patogenicidade , Polimorfismo Genético , Receptores de Interleucina-12/genética , Recidiva , Infecções por Salmonella , Deleção de Sequência/genética , Testes Cutâneos , Síndrome , VirulênciaRESUMO
BACKGROUND: CD27, a lymphocyte specific member of the Tumour Necrosis Factor- Receptor (TNF-R) family is expressed on the majority of peripheral blood T cells. Activation of T cells via TCR/CD3 induces high CD27 surface expression and release of a soluble form (sCD27) of the molecule. sCD27 level increases in patients suffering from a variety of chronic inflammatory diseases. In the present study we aimed to measure both the serum sCD27 levels and CD27 expression on T cells in asthmatic patients, to evaluate the state of this molecule in allergic inflammation. METHODS: Forty-three patients with asthma were included in to the study. CD27 molecule expression and soluble form of this molecule were analysed in atopic asthmatic (n:17) and non-atopic asthmatic (n:13) patients receiving inhaled corticosteroid treatment, in asthmatic patients whose treatment ceased at least for 6 months (n:13) and healthy control subjects (n:14). RESULTS: There were no differences in the expression of CD27 molecule on peripheral blood lymphocyte nor in its soluble form sCD27 levels in sera between the atopic asthmatic and non-atopic asthmatic patients receiving ICS treatment, treatment free asthmatic patients and healthy control subjects. CONCLUSIONS: Neither the soluble form of CD27 nor its expression on T cells seem to be a reliable marker of atopic or non-atopic asthmatic inflammation.