Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Síndrome Linfoproliferativo Autoinmune/diagnóstico , Proteínas de Transporte de Catión/genética , Infecciones por Virus de Epstein-Barr/diagnóstico , Enfermedad de Hodgkin/diagnóstico , Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X/diagnóstico , Adolescente , Enfermedades Autoinmunes/genética , Diagnóstico Diferencial , Infecciones por Virus de Epstein-Barr/genética , Enfermedad de Hodgkin/genética , Humanos , Masculino , Mutación , Neoplasias/diagnóstico , Neoplasias/genética , Síndrome , Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X/genéticaRESUMEN
Anaphylaxis is a rapid onset serious allergic reaction which may be fatal. It is usually triggered by an agent such as a food, insect sting, or medication, through a mechanism involving immunoglobulin E (IgE) and the high-affinity IgE receptor on mast cells or basophils. Anaphylaxis has been rarely described which results from pollen antigen exposure. Here, we present unusual anaphylaxis, which results from inhaled pollen antigen in a 15-year-old boy.
Asunto(s)
Anafilaxia/etiología , Poaceae/inmunología , Polen/inmunología , Adolescente , Humanos , MasculinoRESUMEN
Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and natural killer (NK) cells. X-linked SCID (X-SCID) is its most common form. In this report, we describe a 4-month-old male with X-SCID who presented invagination and also showed hemophagocytic lymphohistiocytosis (HLH). The patient was admitted to our hospital with fever, cough, vomiting, monoliasis, and hepatosplenomegaly in postoperative period at the age of 3 months. The laboratory finding revealed no detectable T cells and hypogammaglobulinemia despite normal B-cell counts. Diagnosis of X-SCID was established by DNA analysis of the interleukin (IL)-2 receptor gamma chain gene (IL2RG); namely, we detected the novel mutation in the splice-site of exon 5 (c.595-1G>T). The patient died due to infection at the age of 4 months. Also, this case is the first report that describes the patient with X-SCID with presented invagination.
RESUMEN
Temporary tattoos, especially those that contain black dyes, have become rampant among teenagers in recent years. Most of these tattoos, in addition to hair dyes include paraphenylenediamine (PPD). PPD is a well-known skin sensitizer, which causes allergic contact dermatitis. Allergic contact dermatitis skin lesions from PPD are mostly seen as erythema multiforme-like eruption, a bullous contact dermatitis or as an exudative erythema. Herein, we report on our finding on a 15 year-old adolescent female who had been unaware of being previously sensitized to PPD from a black henna tattoo, and angioedema-like reaction which occurred after her first exposure to hair dye.
Asunto(s)
Angioedema/inducido químicamente , Dermatitis Alérgica por Contacto/etiología , Tinturas para el Cabello/efectos adversos , Fenilendiaminas/efectos adversos , Tatuaje/efectos adversos , Adolescente , Femenino , HumanosRESUMEN
Hereditary angioedema (HEA) is a disease characterized by decreased levels or function of C1 esterase inhibitor (C1-INH). The symptoms of HEA in pediatric age group generally consist of recurrent episodes of soft tissue swelling. These symptoms can be transient, subtle, and varied in severity. Genitourinary system is rarely affected in this disease. Here, a three-year-old girl who presented with angioedema on her hands, fingers, and face, and had difficulty in urination and globe is reported. The aim of this case is to focus on this rare disease, hereditary angioedema, which presented with difficulty in urination and urinary globe.