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1.
Ann Dermatol Venereol ; 147(1): 41-45, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-31677808

RESUMO

INTRODUCTION: Chronic mucocutaneous candidiasis (CMC) is characterized by susceptibility to chronic or recurrent infections with yeasts of the genus Candida affecting the skin, nails and mucous membranes. We describe a Moroccan patient presenting CMC with heterozygous STAT1 gain-of-function (GOF) mutation. PATIENTS AND METHODS: A 5-year-old boy with no consanguinity presented recurrent episodes of oral thrush, chronic nail candidiasis and herpetic gingivostomatitis from the age of 8 months. He also had mycobacterial adenitis secondary to BCG vaccination and atypical rosacea. Genetic analysis revealed GOF mutation of the STAT1 gene. DISCUSSION: CMC was diagnosed in our patient despite poor clinical features. Sequencing of the genome revealed STAT1GOF mutation. This mutation affects production of IL-17, an important cytokine in mucocutaneous defense against Candida. The association with mycobacterial adenitis is rare and continues to be poorly understood. The presence of atypical rosacea in this setting is suggestive of this entity. Antifungal therapy and prevention of complications are necessary to reduce the morbidity and mortality associated with this condition. CONCLUSION: CMC due to STAT1GOF mutation is characterized by a broad clinical spectrum and should be considered in all cases of chronic or recurrent fungal infection, whether or not associated with other infections.


Assuntos
Candidíase Mucocutânea Crônica/genética , Mutação com Ganho de Função , Fator de Transcrição STAT1/genética , Adjuvantes Imunológicos/efeitos adversos , Vacina BCG/efeitos adversos , Candidíase Mucocutânea Crônica/complicações , Candidíase Bucal/complicações , Calázio/complicações , Pré-Escolar , Doença Crônica , Doenças da Gengiva/virologia , Humanos , Linfadenite/microbiologia , Masculino , Infecções por Mycobacterium/complicações , Onicomicose/complicações , Estomatite Herpética/complicações
2.
J Clin Immunol ; 34(4): 459-68, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24619622

RESUMO

PURPOSE: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to infections. We provide the first comprehensive report on PIDs in Morocco, the epidemiological, clinical, etiological and outcome features which have never before been described. METHODS: A national registry was established in 2008, grouping together data for PID patients diagnosed since 1998. RESULTS: In total, 421 patients were diagnosed between 1998 and 2012. Parental consanguinity was common (recorded for 43.2 % of patients) and the median time to diagnosis was 2.0 years. Overall, 27.4 % of patients were considered to have well defined syndromes with immunodeficiency (48 cases of hyper-IgE syndrome and 40 of ataxia-telangiectasia); 22.7 % had predominantly antibody deficiencies (29 cases of agammaglobulinemia and 24 of CVID); 20.6 % had combined immunodeficiencies (37 cases of SCID and 26 of MHC II deficiencies) and 17.5 % had phagocyte disorders (14 cases of SCN and 10 of CGD). The principal clinical signs were lower respiratory tract infections (60.8 %), skin infections (33.5 %) and candidiasis (26.1 %). Mortality reached 28.8 %, and only ten patients underwent bone marrow transplantation. We analyzed the impact on mortality of residence, family history, parental consanguinity, date of diagnosis and time to diagnosis, but only date of diagnosis had a significant effect. CONCLUSIONS: The observed prevalence of PID was 0.81/100,000 inhabitants, suggesting considerable underdiagnosis and a need to increase awareness of these conditions in Morocco. The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of SCID, MHC II deficiencies, hyper-IgE syndrome and autosomal recessive agammaglobulinemia. However, we have now organized a national network, which should improve diagnosis rates in remote regions.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Sistema de Registros , Adolescente , Adulto , Transplante de Medula Óssea , Criança , Pré-Escolar , Consanguinidade , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/classificação , Síndromes de Imunodeficiência/terapia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Prevalência
3.
Arch Pediatr ; 23(7): 754-9, 2016 Jul.
Artigo em Francês | MEDLINE | ID: mdl-27265585

RESUMO

The Bacille Calmette-Guérin (BCG) vaccine is used extensively worldwide, and more than 100 million children are vaccinated each year. This is a live vaccine that protects against severe tuberculosis in children. However, BCG complications, specific to the BCG vaccine, do occur, although the epidemiology differs from one country to another. Nevertheless, these complications are considered to be rare and range from benign local BCGitis to BCGosis, a potentially lethal disseminated disease. Etiologies of BCGitis/BCGosis can be related to the vaccine itself (technical errors, vaccinal strain) or to the patient. Indeed, it is well established that some immunodeficiencies, primary or acquired, can expose the patient to BCG disease. The diagnosis of a BCG disease lies on clinical examination and laboratory results. Recent advances in molecular biology help to distinguish BCG disease from other mycobacterial infections, especially from tuberculosis. When BCG complications have been confirmed, the underlying defect should be investigated, particularly if other features of immunodeficiency are reported, such as recurrent infection, failure to thrive, etc. Prognosis largely depends on the immune status, but also on the management of the BCG disease. Although the therapeutic protocols are still controversial, there are more and more publications on the diagnosis and management guidelines of the disease.


Assuntos
Vacina BCG/efeitos adversos , Inflamação/microbiologia , Criança , Humanos , Inflamação/diagnóstico , Osteomielite/microbiologia
4.
Neuromolecular Med ; 15(2): 288-94, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23322442

RESUMO

Ataxia-telangiectasia (AT) is a rare autosomal recessive disease, affecting neurologic and immune system. Numerous mutations are described in the ATM gene in several populations. However, in Morocco, few data are available concerning this condition. Our main goal is to determine clinical, immunological, and molecular presentation of Moroccan patients with AT. We screened 27 patients, out of 22 unrelated families, for ATM gene mutations. All our patients showed ataxia, ocular telangiectasia, and immunodeficiency, as well as elevated serum alphafetoprotein levels. Mean age at diagnosis was 5.51 years, and consanguinity rate was 81.8 %. Mean age at onset was 2.02 years, and mean time to diagnosis was 3.68 years. We found 14 different mutations in 19 unrelated families, of which 7 were not reported. Our results showed that c.5644C>T mutation was the most common in our series. However, further studies are required to demonstrate a founder effects on ATM gene in Moroccan patients, who showed mutational heterogeneity otherwise. Our data indicate that direct sequencing of coding exons is sufficient for a high detection rate in ATM in Moroccan population.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Ataxia Telangiectasia/genética , Etnicidade/genética , Mutação , Alelos , Ataxia Telangiectasia/sangue , Ataxia Telangiectasia/etnologia , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Diagnóstico Tardio , Éxons/genética , Feminino , Humanos , Imunoglobulinas/análise , Lactente , Contagem de Linfócitos , Masculino , Marrocos/epidemiologia , alfa-Fetoproteínas/análise
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