Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function [0.03%]
STAT1功能获得性突变致墨西哥成人慢性黏膜皮肤念珠病、分枝杆菌感染和酒渣鼻综合征一例
Valeria Valerio-Gómez,Uriel Pérez-Blanco,Guillermo Velázquez-Sámano et al.
Valeria Valerio-Gómez et al.
STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellular pathogens and vi...
First part. A 45-year-old man with severe pneumonia, disseminated cytomegalovirus infection, and agammaglobulinemia [0.03%]
第一部分 45岁严重肺炎、播散性巨细胞病毒感染和无丙种球蛋白血症男性患者的治疗
Mónica Fernandes Pineda,Andrés F Zea-Vera
Mónica Fernandes Pineda
A 45-year-old male patient presented with a persistent cough lasting four months, accompanied by fever and significant weight loss. A chest computed tomography revealed cryptogenic pneumonia, and subsequent investigations identified a posit...
A hidden enemy: Understanding the hemophagocytic syndrome in children under five years of age in a high-complexity institution in southwestern Colombia [0.03%]
隐匿的敌人：在哥伦比亚西南部一家高复杂性机构中了解五岁以下儿童的噬血细胞综合征
Sofía Martínez,Jacobo Triviño,Oriana Arias et al.
Sofía Martínez et al.
Introduction. Hemophagocytic syndrome is an under-recognized condition with high mortality in the pediatric population. It is characterized by excessive activation of immune cells and cytokine release, leading to persistent inflammation. He...
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia [0.03%]
从表型诊断到分子诊断：来自哥伦比亚免疫学临床服务中心针对先天性免疫缺陷的见解
Mónica Fernandes Pineda,Andrés F Zea-Vera
Mónica Fernandes Pineda
Introduction: Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. ...
Four-month-old infant with chronic granulomatous disease and invasive aspergillosis with bone involvement [0.03%]
四月龄慢性肉芽肿病伴侵袭性曲霉病并发骨损害患儿
Héctor Gómez-Tello,Estefany Graciela Mamani-Velásquez,Ana Karen Gómez-Gutiérrez et al.
Héctor Gómez-Tello et al.
Chronic granulomatous disease is the inborn error of immunity with the highest frequency of invasive aspergillosis. In this context, invasive aspergillosis is frequent in adolescence, with rare cases before one year of age. We present a cas...
Non-cystic fibrosis bronchiectasis in pediatrics: A cohort profile of patients with inborn errors of immunity at a referral center in Cali, Colombia [0.03%]
哥伦比亚卡利转诊中心儿科非囊性纤维化支气管扩张患者病况特征：先天性免疫缺陷患者队列研究
Andrea Murillo,Darly Marín,Jacobo Triviño et al.
Andrea Murillo et al.
Introduction. Inborn errors of immunity are frequently associated with bronchiectasis. The diagnostic performance of these inborn errors has improved because the association of some of these entities with progressive airway damage is better...
Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia [0.03%]
同种半相合造血干细胞移植后环磷酰胺在先天性免疫缺陷患者中的应用：哥伦比亚一家中心的参考经验
Diego Medina,Jhonier Orlando Castro,David Esteban Castro et al.
Diego Medina et al.
Introduction: Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. Hematopoi...
Red flags to suspect inborn errors of immunity in patients with autoimmune diseases [0.03%]
自身免疫性疾病患者怀疑先天性免疫缺陷的警示信号
Natalia Vélez,Juliette De Ávila,Jaime Cortés et al.
Natalia Vélez et al.
Inborn errors of immunity are monogenic disorders that predispose patients to immune dysregulation, autoimmunity, and infection. Some autoimmune diseases, such as autoimmune cytopenias, systemic lupus erythematosus, and inflammatory bowel d...
Clinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia [0.03%]
哥伦比亚一家儿童医院中特异性抗体缺陷的临床和免疫学特征
Lina M Castaño-Jaramillo,Alejandra Munevar,Andrea Carolina Marín et al.
Lina M Castaño-Jaramillo et al.
Introduction. Specific antibody deficiency is an innate error of humoral immunity characterized by normal levels of immunoglobulin isotypes, recurrent infections, and a reduced reaction to polysaccharide antigens in vaccines. Objective. To ...
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [0.03%]
某儿童医院慢性肉芽肿病患者的临床和基因型特征描述
Xareni Berriozábal-Villarruel,Guadalupe Fernanda Godínez-Zamora,Patricia Baeza-Capetillo et al.
Xareni Berriozábal-Villarruel et al.
Introduction: Chronic granulomatous disease is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in the NADPH ...