Video Experimental Relacionado

Updated: Sep 9, 2025

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Una nueva mutación hipomórfica en IL2RG asociada con enfermedad pulmonar intersticial grave

Hui Liu¹, Haiming Yang¹, Hui Xu¹

¹Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

The journal of allergy and clinical immunology. Global

|September 2, 2025

Resumen

Las mutaciones hipomórficas en el gen IL2RG rara vez se asocian con trastornos autoinmunes. Este estudio detalla a un niño con enfermedad pulmonar grave y síndrome de Omenn debido a una nueva variante de IL2RG.

Área de la Ciencia:

Inmunología
La genética
Medicina pediátrica

Sus antecedentes:

El gen del receptor gamma de la interleucina-2 (IL2RG) es crucial para el desarrollo del sistema inmunológico.
Las mutaciones hipomórficas en IL2RG generalmente conducen a inmunodeficiencia combinada grave (SCID), pero los trastornos inflamatorios o autoinmunes se consideran raros.
Comprender el espectro completo de las afecciones asociadas con IL2RG es esencial para un diagnóstico y un tratamiento precisos.

Objetivo del estudio:

Para reportar una nueva variante de cambio de marco en el gen IL2RG.
Describir la presentación clínica de un niño con enfermedad pulmonar intersticial grave y síndrome de Omenn asociado con esta nueva variante.

Principales métodos:

Secuenciación genética para identificar variantes en el gen IL2RG.
Presentación del caso clínico y fenotipo detallado.

Principales resultados:

Identificación de una nueva variante de desplazamiento de marco en el gen IL2RG.
El paciente presentaba una enfermedad pulmonar intersticial prolongada y grave y el síndrome Omenn-like, desafiando la presentación típica de mutaciones hipomórficas IL2RG.

Conclusiones:

Este caso amplía el espectro conocido de trastornos asociados a IL2RG.
Las nuevas variantes de IL2RG pueden conducir a una desregulación inmune grave y a la afectación de múltiples órganos, incluida una enfermedad pulmonar grave, incluso en ausencia de manifestaciones autoinmunes típicas.

Palabras clave:

El gen IL2RG Síndrome de Omenn Enfermedad de inmunodeficiencia combinada grave atípica mutación hipomórfica Enfermedad pulmonar intersticial

Más Videos Relacionados

An IL-8 Transiently Transgenized Mouse Model for the In Vivo Long-term Monitoring of Inflammatory Responses

An IL-8 Transiently Transgenized Mouse Model for the In Vivo Long-term Monitoring of Inflammatory Responses

Published on: July 7, 2017

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Published on: September 20, 2024

Videos de Conceptos Relacionados

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

T Cell Types and Functions

T Cell Types and Functions

When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...