“Inborn error of selective antibody immunity: IgG3 deficiency”. Case report
Introduction Selective IgG subclass deficiency is one of the 4 most common […]
“Inborn error of selective antibody immunity: IgG3 deficiency”. Case report Read More »
Case report
Suspected Mendelian Susceptibility to Mycobacterial Disease (MSMD): A Case Series
Introduction: MSMD is caused by congenital errors in the immunity of the
Suspected Mendelian Susceptibility to Mycobacterial Disease (MSMD): A Case Series Read More »
Hyper-IgM (HIGM) syndrome with uracil -N- glycosylase (UNG) deficiency; First case reported in Mexico.
Hyper-IgM syndrome due to UNG deficiency is a very rare entity with
“IL12Rβ1 DEFICIENCY, AUTOIMMUNITY AND SEVERE LYMPHOPENIA”
INTRODUCTION IL12Rβ1 deficiency ranks as the most common form of Mendelian susceptibility
“IL12Rβ1 DEFICIENCY, AUTOIMMUNITY AND SEVERE LYMPHOPENIA” Read More »
A phenocopy defect: Anti-IL12p70 autoantibodies in a teenage girl With bone tuberculosis and multiple recurrent abscesses: the second case reported.
* Introduction. Phenocopies of PIDs are rare diseases caused by a somatic
Ectodermal dysplasia with immunodeficiency when NEMO is not the cause
Ectodermal dysplasias (ED) are genodermatoses sometimes associated with immune deficiency (ED-ID) usually
Ectodermal dysplasia with immunodeficiency when NEMO is not the cause Read More »
“Manifestaciones clínicas y diagnóstico molecular en el síndrome de Kabuki: A propósito de un caso”.
Introducción: El síndrome de Kabuki es poco frecuente, se caracteriza por presentar
Duplication of Exons 7-8 in NCF2 leads to severe to asymptomatic spectrum in Chronic Granulomatous Disease.
INTRODUCTION. Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI).
Two cases of Inborn errors of immunity in a Mennonite population in Chihuahua.
Introduction: Inborn errors of immunity (IEI), have demonstrated a higher prevalence among
Two cases of Inborn errors of immunity in a Mennonite population in Chihuahua. Read More »
ISOLATED IgG3 DEFICIENCY IN ONE ADULT PATIENT WITH AUTOIMMUNE HYPOTHYROIDISM AND LATE ONSET SEVERE ASTHMA: A CASE REPORT.
INTRODUCTION: Deficiency of IgG (one or more IgG subclases) it’s defined as
