RESUMO
BACKGROUND AND OBJECTIVES: Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. METHODS: We reviewed our patients with G6PC3 deficiency diagnosed along the last decade in Mexico; we also searched the PubMed/Medline database for the terms ('G6PC3 deficiency' OR 'Dursun syndrome' OR 'Severe congenital neutropenia type 4'), and selected articles published in English from 2009 to 2020. RESULTS: We found 89 patients reported from at least 14 countries in 4 continents. We describe five new cases from Mexico. Of the 94 patients, 56% are male, 48% from Middle East countries and none of them had adverse reactions to live vaccines; all presented with at least 1 severe infection prior to age 2. Seventy-five per cent had syndromic features, mainly atrial septal defect in 55% and prominent superficial veins in 62%. CONCLUSIONS: With a total of 94 patients reported in the past decade, we delineate the most frequent laboratory and genetic features, their treatment and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.
Assuntos
Glucose-6-Fosfatase , Neutropenia , Domínio Catalítico , Síndrome Congênita de Insuficiência da Medula Óssea , Feminino , Glucose-6-Fosfatase/genética , Glucose-6-Fosfatase/metabolismo , Humanos , Masculino , Neutropenia/congênito , Neutropenia/genéticaRESUMO
Chronic granulomatous disease (CGD) is a primary immunodeficiency syndrome which is characterized by increased susceptibility to severe fungal and bacterial infections. CGD is the result of the lack of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in the patient's phagocytes to produce superoxide. It is characterized by recurrent infections with a narrow spectrum of bacteria and fungi, as well as a common set of inflammatory complications, including inflammatory bowel disease. The most frequently found pathogens are Staphylococcus aureus, species of Aspergillus, species of Klebsiella, Burkholderia cepacia, Serratia marcescens and species of Salmonella. Long term antibiotic prophylaxis has helped fight infections associated with chronic granulomatous disease, while the steady progress in bone marrow transplants and the possibility of gene therapy are defined as permanent treatment options.
La enfermedad granulomatosa crónica es un síndrome de inmunodeficiencia primaria caracterizado por mayor susceptibilidad para desarrollar infecciones fúngicas y bacterianas graves. La enfermedad granulomatosa crónica es el resultado de una falla de la enzima nicotinamida adenina dinucleótido fosfato oxidasa en los fagocitos del paciente para producir superóxido. Se caracteriza por infecciones recurrentes con un espectro estrecho de bacterias y hongos, así como por un conjunto común de complicaciones inflamatorias, entre las que se incluye la enfermedad inflamatoria intestinal. Los patógenos más frecuentemente encontrados son Staphylococcus aureus, Aspergillus spp., Klebsiella spp., Burkholderia cepacia, Serratia marcescens y Salmonella spp. La profilaxis antibiótica a largo plazo ha ayudado a combatir las infecciones asociadas con la enfermedad granulomatosa crónica, mientras que el progreso constante en el trasplante de médula ósea y la posibilidad de la terapia génica ser perfilan como opciones de tratamiento permanente.
Assuntos
Doença Granulomatosa Crônica , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/terapia , HumanosRESUMO
BACKGROUND: Allergic rhinitis is the most common allergic disease worldwide and it is caused by a reaction of hypersensitivity to aeroallergens. To our knowledge, there aren't any previous studies of aeroallergenic sensitization in Aguascalientes, Mexico. OBJECTIVE: To describe the sensitization to aeroallergens in patients with allergic rhinitis who have been treated at a private clinic in Aguascalientes, Mexico. METHODS: A descriptive, cross-sectional and retrospective study was done in which patients diagnosed with allergic rhinitis were included. Skin prick tests with 32 allergenic extracts were carried out and the frequencies at each were determined. RESULTS: In total, 350 patients were analyzed. The most frequent aeroallergens were grass pollens (74.8%), followed by tree pollens (64.8%) and dust mites Dermatophagoides pteronyssinus (64%). The group of patients under 20 years of age was predominant (67.1%), followed by the group of 21 to 40 years old (22.5%). CONCLUSIONS: This research provides information about regional patterns of sensitization, which shall facilitate diagnostic tests in the region and the best practices of specific immunotherapy.
Antecedentes: La rinitis alérgica es la enfermedad alérgica más común en el mundo y es causada por hipersensibilidad a los aeroalérgenos. Hasta donde sabemos, no hay estudios previos de sensibilización aeroalergénica en Aguascalientes, México. Objetivo: Describir la sensibilización a aeroalérgenos en pacientes con rinitis alérgica tratados en una clínica privada en Aguascalientes, México. Métodos: Estudio descriptivo, transversal y retrospectivo; se incluyeron pacientes diagnosticados con rinitis alérgica. Se realizaron pruebas cutáneas con 32 extractos alergénicos y se determinaron las frecuencia de reacción a cada uno. Resultados: En total se analizaron 350 pacientes. Los aeroalérgenos más frecuentes fueron los pólenes de pastos (74.8%), seguidos por los pólenes de árboles (64.8%) y Dermatophagoides pteronyssinus (64%). El grupo de edad predominante fue el menor de 20 años (67.1%), seguido del grupo de 21 a 40 años (22.5%). Conclusión: La investigación proporciona información sobre los patrones regionales de sensibilización, que facilitará las pruebas de diagnóstico en la región y las mejores prácticas de inmunoterapia específica.
Assuntos
Poluentes Atmosféricos/imunologia , Alérgenos/imunologia , Rinite Alérgica/imunologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , México , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
The autoimmune lymphoproliferative syndrome (ALPS) is an inborn immunity error, which is the result of a heterogeneous group of mutations in the genes that regulate the apoptosis phenomenon. It typically appears in the first years of life. The most common clinical signs are lymphoid expansion with lymphadenopathy, splenomegaly, and hepatomegaly; immune disease with different types of cytopenia, including thrombocytopenia, hemolytic anemia, and lymphoma. The lab abnormalities that facilitate the diagnosis of ALPS include the presence of double negative alpha/beta T cells, high interleukin levels, vitamin B12 in the blood, and FAS-mediated defective apoptosis in the in vitro assay. The treatment of ALPS is focused on three aspects: The treatment of the manifestations of the disease, the prevention/treatment of complications, and the curative treatment (hematopoietic progenitor cell transplantation [HPCT]). The use of immunosuppressive therapy is suggested only for severe complications of lymphoproliferation or concomitant autoimmune manifestations. Splenectomy is not recommended for autoimmune manifestations in patients with ALPS. HPCT is reserved for selected patients. The survival rate to 50 years is estimated at 85% for patients with FAS deficiency.
El síndrome linfoproliferativo autoinmune (ALPS, autoimmune lymphoproliferative syndrome) es un error innato de la inmunidad, resultado de un grupo heterogéneo de alteraciones en los genes que regulan el fenómeno de apoptosis. Se manifiesta típicamente en los primeros años de vida. Las manifestaciones clínicas más comunes son la expansión linfoide con linfadenopatía, esplenomegalia y hepatomegalia, enfermedad autoinmune con citopenias, incluyendo trombocitopenia y anemia hemolítica, así como linfoma. Las anomalías de laboratorio que facilitan el diagnóstico de ALPS incluyen presencia de células alfa-beta T doble negativas, niveles elevados de interleucina 10, vitamina B12 en sangre y apoptosis defectuosa mediada por FAS en ensayo in vitro. El tratamiento de ALPS se centra en tres aspectos: el tratamiento de las manifestaciones de la enfermedad, la prevención y tratamiento de las complicaciones y el tratamiento curativo (trasplante de células progenitoras hematopoyéticas [TCPH]). Se sugiere el uso de tratamiento inmunosupresor solo para las complicaciones graves de la linfoproliferación o manifestaciones autoinmunes concomitantes. La esplenectomía no se recomienda para las manifestaciones autoinmunes en pacientes con ALPS. El TCPH se reserva para pacientes seleccionados. La tasa de supervivencia a 50 años se estima en 85 % para los pacientes con deficiencia de FAS.