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Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to anti-CD20 monoclonal antibody
Iranian Journal of Allergy, Asthma and Immunology. 2008; 7 (3): 181-184
en Inglés | IMEMR | ID: emr-87302
ABSTRACT
Immunodeficiency and autoimmune disease may occur concomitantly in the same individual. Some of the immunodeficiency syndromes, especially humoral defects are associated with autoimmune disorders. Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. Persistent antigen stimulation due to an inherent defect in the ability of the immune system to eradicate pathogens is the primary cause leading to autoimmunity in patients with primary immunodeficiency states. We describe a 10 year old Iranian girl with chronic granulomatous disease -the autosomal recessive type with mutation of NCF1 gene P47- associated with selective IgA deficiency, refractory immune thrombocytopenia that showed an excellent response to Rituximab [Anti-CD20 monoclonal antibody]. Patients with primary immunodeficiencies may have variable autoimmune manifestations. So for early detection and appropriate treatment, autoimmune diseases should always be suspected in such patients
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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Reacción en Cadena de la Polimerasa / Púrpura Trombocitopénica Idiopática / Deficiencia de IgA / Antígenos CD20 / Patrón de Herencia / Genes Recesivos Tipo de estudio: Informe de Casos / Estudio de tamizaje Límite: Femenino / Humanos Idioma: Inglés Revista: Iran. J. Allergy Asthma Immunol. Año: 2008

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Índice: IMEMR (Mediterraneo Oriental) Asunto principal: Reacción en Cadena de la Polimerasa / Púrpura Trombocitopénica Idiopática / Deficiencia de IgA / Antígenos CD20 / Patrón de Herencia / Genes Recesivos Tipo de estudio: Informe de Casos / Estudio de tamizaje Límite: Femenino / Humanos Idioma: Inglés Revista: Iran. J. Allergy Asthma Immunol. Año: 2008