Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated
Mycobacterium bovis
-Bacillus Calmette–Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by
Salmonella
, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in
IL12RB1
(
n
= 13),
IFNGR1
(
n
= 3), and
IFNGR2
(
n
= 1) genes. Interleukin-12Rβ1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.
Supplementary Information
The online version contains supplementary material available at 10.1007/s10875-022-01357-8.
Effector capabilities of γδ T cells are evident in Plasmodium infection in young and adult individuals, while children are the most vulnerable groups affected by malaria. Here, we aimed to investigate the age-dependent phenotypic composition of Vδ1+, Vδ2+, and Vδ3+ T cells in children living in endemic malaria areas and how this differs between children that will develop symptomatic and asymptomatic Plasmodium falciparum infections. Flow cytometric profiling of naïve and effector peripheral blood γδ T cells was performed in 6 neonates, 10 adults, and 52 children. The study population of young children, living in the same malaria endemic region of Ghana, was monitored for symptomatic vs asymptomatic malaria development for up to 42 weeks after peripheral blood sampling at baseline. For the Vδ2+ T cell population, there was evidence for an established type 1 effector phenotype, characterized by CD94 and CD16 expression, as early as 1 year of life. This was similar among children diagnosed with symptomatic or asymptomatic malaria. In contrast, the proportion of type 2- and type 3-like Vδ2 T cells declined during early childhood. Furthermore, for Vδ1+ and Vδ3+ T cells, similar phenotypes of naïve (CD27+) and type 1 effector (CD16+) cells were observed, while the proportion of CD16+ Vδ1+ T cells was highest in children with asymptomatic malaria. In summary, we give evidence for an established adult-like γδ T cell compartment in early childhood with similar biology of Vδ1+ and Vδ3+ T cells. Moreover, the data supports the idea that type 1 effector Vδ1+ T cells mediate the acquisition of and can potentially serve as biomarker for natural immunity to P. falciparum infections in young individuals from malaria-endemic settings.
Phlegmonous gastritis (PG) is a rare and severe infection, with less than 500 cases reported. Similarly, Good syndrome represents a rare adult-onset immunodeficiency with a prevalence of 1 in 500,000 people. We present the first case of a patient with Good syndrome complicated with PG. Given that up to 50% of patients with PG do not have an identified risk factor, underlying immunodeficiencies should be conscientiously investigated.
El virus SARS-CoV-2 se identificó por primera vez en la ciudad de Wuhan, China, a finales de 2019. Desde entonces, la enfermedad producida por este nuevo coronavirus COVID-19, representa una amenaza creciente para la salud humana. El SARS-CoV-2 es un virus de ARN monocatenario envuelto. La secuenciación completa de su genoma ha permitido clasificarlo en el género Betacoronavirus, de la subfamilia Coronavirinae. La similitud genómica con coronavirus derivados de murciélagos y pangolines malayos sugiere a los murciélagos como el reservorio natural principal y a los pangolines como el huésped intermediario. La glicoproteína S viral es un objetivo clave para el desarrollo de vacunas, de blancos terapéuticos y de pruebas diagnósticas. Esta proteína desempeña un papel decisivo en la unión y entrada a la célula blanco y determina el tropismo del virus por el huésped.
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