ABSTRACT
Mutations in recombinase activating genes 1 and 2 (RAG1/2) result in human severe combined immunodeficiency (SCID). The products of these genes are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Mutations resulting in null-recombination activity in RAG1 or RAG2 are associated with the most severe clinical and immunological phenotypes, whereas patients with hypomorphic mutations may develop leaky SCID, including Omenn syndrome (OS). A group of previously unrecognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence of hypomorphic mutations. Here, we present six patients from unrelated families with missense variants in RAG1 or RAG2. Phenotypes observed in these patients ranged from OS to severe mycobacterial infections and granulomatous disease. Moreover, we report the first evidence of two variants that had not been associated with immunodeficiency. This study represents the first case series of RAG1- or RAG2-deficient patients from Mexico and Latin America.
Subject(s)
DNA-Binding Proteins/deficiency , DNA-Binding Proteins/genetics , Homeodomain Proteins/genetics , Mutation/genetics , Mutation/immunology , Nuclear Proteins/deficiency , Nuclear Proteins/genetics , Adolescent , Child , Female , Humans , Immunologic Deficiency Syndromes/genetics , Immunologic Deficiency Syndromes/immunology , Infant , Lymphocytes/immunology , Male , Mexico , PhenotypeABSTRACT
Se estudiaron 126 niños con enfermedad alérgica, que acudieron al servicio de alergias del Instituto Nacional de Pediatría (INP), a quienes se les hicieron pruebas cutáneas: inmediata, tardía y dual. Los resultados obtenidos mostraron que 68 por ciento presentó respuesta inmediata (RI), 6 por ciento respuesta tardía aislada y 26 por ciento respuesta dual. Los alergenos que con más frecuencia se encontrarón, tanto en la respuesta cutánea inmediata como tardía fueron Dermatophagoides pteronyssinus, Dermatophagoides farinae y polvo casero. Aproximadamente la tercera parte de los pacientes estuadiados presentaron respuesta cutánea tardía (respuesta dual, más respuesta tardía aislada), por lo que en la evaluación de un paciente alérgico se debe valorar la respuesta cutánea tardía para un mejor diagnóstico etiológico
