Background The minimum data set (MDS) is a collection of data elements to be grouped
using a standard approach to allow the use of data for clinical and research purposes …

Complement not only plays a key role in host microbial defense but also modulates the
adaptive immune response through modification of T-and B-cell reactivity. Moreover, a …

Rubella virus (RuV) has recently been found in association with granulomatous
inflammation of the skin and several internal organs in patients with inborn errors of …

Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian
subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka …

Introduction The J Project (JP) physician education and clinical research collaboration
program was started in 2004 and includes by now 32 countries mostly in Eastern and …

Background Inborn errors of immunity (IEI) predispose patients to various infectious and non-
infectious complications. Thanks to the development and expanding use of flow cytometry …

Purpose Allogeneic hematopoietic stem cell transplantation (HSCT) is an established
therapy for many inborn errors of immunity (IEI). The indications for HSCT have expanded …

The classical pathway of the complement cascade has been recognized as a key activation
arm, partnering with the lectin activation arm and the alternative pathway to cleave C3 and …

Fundamentos: Según el Consorcio Internacional para la Investigación de Enfermedades
Raras (IRDiRC) el diagnóstico de una enfermedad rara (ER) conocida debería hacerse en …

Introduction: Hereditary angioedema (HAE) is a rare disease caused by dysfunction or lack
of the C1 esterase inhibitor (C1-INH) protein. The true prevalence of HAE, and whether this …