Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity. Here, we report two cases of VL as a marker of inborn errors of immunity, namely, GATA2 and RAB27A deficiency. Our data suggest that VL patients should be screened for primary immunodeficiency, particularly in cases of VL relapse.
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http://dx.doi.org/10.1590/0037-8682-0322-2023 | DOI Listing |
Nature
January 2025
Columbia Center for Genetic Errors of Immunity, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy. Incomplete penetrance is common among IEIs despite their monogenic basis. Here we investigate the contribution of autosomal random monoallelic expression (aRMAE), a somatic commitment to the expression of one allele, to phenotypic variability observed in families with IEIs.
View Article and Find Full Text PDFCommun Med (Lond)
December 2024
Inserm UMRS 1256 NGERE, University of Lorraine, Nancy, France.
Background: Early-life exposures including diet, and the gut microbiome have been proposed to predispose infants towards multifactorial diseases later in life. Delivery via Cesarian section disrupts the establishment of the gut microbiome and has been associated with negative long-term outcomes. Here, we hypothesize that Cesarian section delivery alters not only the composition of the developing infant gut microbiome but also its metabolic capabilities.
View Article and Find Full Text PDFMol Biol Rep
December 2024
Translational Genomics Laboratory, COMSATS University Islamabad, Taramri Chock, Park Road, Islamabad, 45550, Pakistan.
Background: Methylmalonic acidemia (MMA), type mut (0) is a rare type of genetic inborn error of metabolism (IEM) that is caused by aberrant malonyl-CoA mutase activity. Diagnosing IEM can be challenging due to its inherited onset and varying degrees of severity.
Methods And Results: In the present study, a consanguineous Pakistani family suspected of IEM was genetically analyzed using whole exome sequencing.
J Allergy Clin Immunol
December 2024
Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Background: Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations can cause severe combined immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death.
Objective: To perform immunological and molecular characterization of an infant with a PSMB10 heterozygous variant.
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