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1.
Clin Immunol ; 193: 52-59, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29410324

RESUMO

Chronic granulomatous disease (CGD) is a phagocytic disorder characterized by a defective production of reactive oxygen species (ROSs). Although infections and granuloma formation are the most common manifestations in CGD patients, a significant number of patients experienced autoimmunity and inflammatory diseases suggesting that adaptive immune abnormalities might be involved. Here we investigated T-cell compartment and showed that CGD patients had a skewed TCRV-beta distribution in CD8+ T cells, particularly in older patients, and a reduced proliferative responses toward mitogens compared to healthy donors (HD). Afterwards we studied the role of gp91phox protein in causing these alterations and demonstrated that human T cells do not express gp91phox and TCR-stimulated ROS generation is gp91phox-NADPH oxidase independent. Finally, we proved that the NADPH oxidase is not active in the T cell compartment even when forcing gp91phox expression transducing T cells from X-CGD and HD with a SIN lentiviral vector (LVV) encoding the gp91phox cDNA.

2.
Pediatr Allergy Immunol ; 28(8): 801-809, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28981976

RESUMO

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocytes, characterized by life-threatening infections and hyperinflammation. Due to survival improvement, inflammatory bowel disease (IBD) is becoming increasingly relevant. Here, we report our 20 year experience. METHODS: We retrospectively analyzed clinic, endoscopic, and histologic features, as well as the management of CGD-IBD patients referred to the Bambino Gesù Children's Hospital in Rome, Italy. RESULTS: Of 20 patients with CGD, 9 presented with CGD-IBD at diagnosis and/or during follow-up. Symptoms occurred at a median age of 16 years (range 3.2-42), with a median delay of 6 months for endoscopic confirmation. Patients mainly complained of nonspecific diarrhea (55%), with discrepancy between symptom paucity and severe endoscopic appearance, mainly represented by extensive colonic involvement (44%). Histology revealed at least 2 characteristic features (epithelioid granulomas, pigmented macrophages, and increased eosinophils) in 78% of patients. Eight of 9 patients received oral mesalamine, and 5 required systemic steroids. One patient received azathioprine due to steroid dependence. No patient required biological therapy or surgery. Clinical remission was obtained in all patients, but the majority complained of mild relapses. Two episodes of severe infection occurred early after steroid therapy. CONCLUSIONS: Penetrance of CGD-IBD increases with age. Clinical manifestations may be subtle, and clinicians should have a low threshold to recommend endoscopy. Treatment with NSAIDs and/or steroids achieves a good response, but relapses usually occur. Infection surveillance is mandatory during treatment, to prevent opportunistic infections. A close collaboration between pediatric immunologists and gastroenterologists is pivotal, including combined follow-up.


Assuntos
Doença Granulomatosa Crônica/complicações , Doenças Inflamatórias Intestinais/etiologia , Adolescente , Adulto , Anti-Inflamatórios/uso terapêutico , Criança , Pré-Escolar , Feminino , Seguimentos , Doença Granulomatosa Crônica/diagnóstico , Humanos , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/tratamento farmacológico , Masculino , Recidiva , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
4.
Clin Immunol ; 173: 121-123, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27713031

RESUMO

Recombination-activating gene (RAG) 1 and 2 mutations in humans cause T- B- NK+ SCID and Omenn syndrome, but milder phenotypes associated with residual protein activity have been recently described. We report a male patient with a diagnosis of common variable immunodeficiency (CVID) born from non-consanguineous parents, whose immunological phenotype was characterized by severe reduction of B cells and agammaglobulinemia for which several candidate genes were excluded by targeted Sanger sequencing. Next Generation Sequencing revealed two compound heterozygous mutations in the RAG1 gene: the previously described p.R624H, and the novel p.Y728H mutation, as well as the known polymorphism p.H249R. This case reinforces the notion of large phenotypic spectrum in RAG deficiency and opens questions on the management and follow-up of these patients.


Assuntos
Agamaglobulinemia/genética , Imunodeficiência de Variável Comum/genética , Proteínas de Homeodomínio/genética , Pólipos Nasais/genética , Agamaglobulinemia/imunologia , Linfócitos B/imunologia , Criança , Imunodeficiência de Variável Comum/imunologia , Humanos , Masculino , Mutação , Pólipos Nasais/imunologia , Fenótipo
5.
Ital J Pediatr ; 41: 23, 2015 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-25881033

RESUMO

Ataxia-Telangiectasia is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in Ataxia-Telangiectasia Mutated gene. It is characterized by neurological, immunological and cutaneous involvement. Granulomas have been previously reported in Ataxia-Telangiectasia patients, even if acne rosacea has not been described.We report a case of a young Ataxia-Telangiectasia patient with a severe immunological and neurological involvement, who developed granulomatous skin lesions diagnosed by skin biopsy as acne rosacea. Considering the severe clinical picture and the lack of improvement to multiple topic and systemic therapies, treatment with Isotretinoin was started and the skin lesions disappeared after five months. However the therapy was stopped due to drug-hepatotoxicity.Systemic treatment with Isotretinoin should be carefully considered in patient with Ataxia-Telangiectasia for the treatment of multi-drug resistant acne rosacea, however its toxicity may limit long-term use and the risk/benefit ratio of the treatment should be evaluated.


Assuntos
Ataxia Telangiectasia/complicações , Fármacos Dermatológicos/uso terapêutico , Isotretinoína/uso terapêutico , Rosácea/tratamento farmacológico , Rosácea/etiologia , Adolescente , Ataxia Telangiectasia/sangue , Resistência a Múltiplos Medicamentos , Feminino , Humanos , Fígado/efeitos dos fármacos , Rosácea/sangue , Rosácea/patologia , Pele/patologia
6.
Pediatr Nephrol ; 29(11): 2229-33, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25037864

RESUMO

BACKGROUND: Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting from the absence or malfunction of oxidative mechanism in phagocytic cells. The disease is due to a mutation in one of four genes that encode subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Affected patients experience severe infections and granuloma formation due to exuberant inflammatory responses. Some evidence suggests that eosinophilic cystitis (EC) is included in the spectrum of inflammatory manifestations. EC is an inflammatory disease, rare in childhood, which may require different, nonstandardized therapeutic approaches, ranging from antihistamines to cyclosporine. CASE-DIAGNOSIS/TREATMENT: Herein we describe the cases of two CGD patients with CGD who experienced EC during hospitalization for a severe infection. CONCLUSIONS: EC in immunocompetent children seems to have a self-limiting course, unlike in CGD patients, in whom it presents a prolonged and recurrent course. We focus on the effective therapy administered to our patients with CGD and review the corresponding literature.


Assuntos
Cistite/complicações , Cistite/terapia , Doença Granulomatosa Crônica/complicações , Abscesso Encefálico/complicações , Abscesso Encefálico/terapia , Pré-Escolar , Eosinófilos/patologia , Febre/complicações , Doença Granulomatosa Crônica/genética , Humanos , Infecção/complicações , Pneumopatias/complicações , Masculino , Infecções por Salmonella/complicações , Salmonella typhimurium
7.
Curr Opin Allergy Clin Immunol ; 14(3): 246-54, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24739227

RESUMO

PURPOSE OF REVIEW: To assess all the possible differential diagnosis of food protein-induced enterocolitis syndrome (FPIES), both in acute and chronic presentation, reviewing the data reported in published studies. RECENT FINDINGS: There is an increase of reported cases of FPIES in recent years. As the disease presents with nonspecific symptoms, it can be misunderstood in many ways. The differential diagnosis includes, in acute presentations, the following: sepsis, other infectious diseases, acute gastrointestinal episodes, surgical emergencies, food allergies. In its chronic forms, FPIES may mimic malabsorption syndromes, metabolic disorders, primary immunodeficiencies, neurological conditions, coagulation defects, and other types of non-IgE-mediated food allergy. SUMMARY: A thorough clinical evaluation, including symptoms, signs, and laboratory findings, is necessary to lead the clinicians toward the diagnosis of FPIES. The major reason for delayed diagnosis appears to be the lack of knowledge of the disease.


Assuntos
Proteínas na Dieta/efeitos adversos , Enterocolite/diagnóstico , Transtornos da Coagulação Sanguínea/diagnóstico , Transtornos da Coagulação Sanguínea/fisiopatologia , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/fisiopatologia , Diagnóstico Diferencial , Enterocolite/etiologia , Enterocolite/fisiopatologia , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/fisiopatologia , Humanos , Síndromes de Malabsorção/diagnóstico , Síndromes de Malabsorção/fisiopatologia , Síndrome
8.
Pediatr Infect Dis J ; 33(5): 525-8, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24445825

RESUMO

Chronic granulomatous disease is a rare primary immunodeficiency caused by phagocytic cell defect. We describe the case of 43-month-old boy with chronic granulomatous disease presenting with Salmonella spp brain abscesses, together with a review of the 13 cases reported in the literature.


Assuntos
Abscesso Encefálico/complicações , Abscesso Encefálico/patologia , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/patologia , Infecções por Salmonella/patologia , Salmonella/isolamento & purificação , Abscesso Encefálico/microbiologia , Pré-Escolar , Doença Granulomatosa Crônica/microbiologia , Humanos , Masculino , Infecções por Salmonella/microbiologia
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