Inmunodeficiencia Común Variable: manifestaciones clínicas iniciales. Serie de casos / Common Variable Immunodeficiency: initial clinical manifestations. Number of cases

La inmunodeficiencia común variable (IDCV) es una inmunodeficiencia primaria caracterizada por hipogammaglobulinemia de comienzo tardío, que se manifiesta principalmente con infecciones recurrentes Objetivo: describir las manifestaciones clínicas iniciales de pacientes con IDCV diagnosticados en el Hospital de Niños Sor Maria Ludovica entre 1981 y 2019.Diecinueve pacientes fueron incluidos. Todos los pacientes tenían historia de infecciones recurrentes, siendo las más frecuentemente observadas la neumonía (74%) y la otitis media (42%).Se documentó diarrea crónica en 9 pacientes (47%), con malabsorción asociada en 6 de ellos. El 32% de los pacientes presentó desnutrición severa y uno de ellos metaplasia gástrica. Un paciente presentó esplenomegalia y otro síndrome de Evans.Bronquiectasias fueron observadas en el 42% de los pacientes al diagnóstico.Conocer las manifestaciones clínicas iniciales de la IDCV es fundamental para el diagnóstico precoz y tratamiento oportuno

Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by late onset hypogammaglobulinemia, that can manifest as recurrent infections, autoimmunity, digestive disorders and granulomatous disease. Objectives: to describe the initial clinical findings of patients with CVID diagnosed at Hospital de NiñosSorMariaLudovica, between 1981 and 2019. 19 patients were included, 14 were male (74%). All Patients Had a history of recurrent infections, most frequently pneumonia (74%) and acute otitis media (42%). 9 patients suffered from chronic diarrhea (47%), with associated malabsorption in 6 of them. Thirty-two presented with severe malnutrition and 1 patient with gastric metaplasia. One Patient Had Splenomegaly and 1 had Evans´ syndrome. Bronchiectasis were found in 42% of patients at the time of diagnosis. Early suspicion of CVID from pediatricians is essential in order to arrive at a proper diagnosis

Effect of single post-ovulatory administration of levonorgestrel on gene expression profile during the receptive period of the human endometrium.

The hypothesis that levonorgestrel (LNG) used as an emergency contraceptive interferes with endometrial receptivity remains unproven. We compared the endometrial gene expression profile during the receptive period after administering a single dose of LNG 1.5 mg or placebo on day 1 of the luteal phase. An endometrial biopsy was done on day LH+7 or LH+8 and samples were taken from seven volunteers, each one contributing with one cycle treated with placebo and another with LNG. The expression of 20 383 genes was determined using cDNA microarrays. Real-time RT-PCR was used 1) to confirm the differences found in DNA microarray analysis and 2) to determine the effect of LNG on transcript levels of C3, C4BPα, COX2, MAOA, S100A4, and SERPINB9, known to be upregulated during receptivity, and on cPLA2α, JAK1, JNK1, CTSL1, and GSTP1, known to respond to mifepristone. Additional endometrial biopsies were done during the pre-receptive (LH+3) and receptive (LH+7) period and samples were taken from eight untreated volunteers in order to determine the changes associated with acquisition of receptivity of 14 genes. Mean levels of PAEP, TGM2, CLU, IGF2, and IL6ST mRNAs increased after administering LNG while those of HGD, SAT1, EVA1, LOC90133, ANXA1, SLC25A29, CYB5A, CRIP1, and SLC39A14 decreased. Except for the level of ANXA1 transcript, all changes remained within the range observed in untreated controls, and none of the transcripts responding to mifepristone changed in response to LNG. Post-ovulatory administration of LNG caused minimal changes in gene expression profiling during the receptive period. Neither the magnitude nor the nature or direction of the changes endorses the hypothesis that LNG interferes with endometrial receptivity.