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Cutaneous Microthrombosis in a Patient With Factor V Leiden Heterozygosity and Antibodies to Phosphatidylserine/Prothrombin Complex.
Cureus
December 2024
Rheumatology, St. Luke's Meridian Medical Center, Meridian, USA.
This report describes the development of recurrent cutaneous microthrombosis in a patient with the superposition of Factor V Leiden heterozygosity on a noncriteria IgM antibody to phosphatidylserine/prothrombin complex. The patient was treated with prednisone, apixaban, and rituximab and was stable off of prednisone at her last outpatient visit 22 months after the initial event. This report illustrates the challenges of dealing with multifactor thrombophilia especially when one of those factors is a noncriteria antiphospholipid antibody and reaffirms the value of testing for noncriteria antibodies when clinical findings suggest the presence of antiphospholipid antibodies but the criteria antibodies are negative.
View Article and Find Full Text PDFHuman ADA2 deficiency (DADA2) is an inborn error of immunity with a broad clinical phenotype which encompasses vasculopathy including livedo racemosa and lacunar strokes, as well as hemato-immunological features. Diagnosis is based on the combination of decreased serum ADA2 activity and the identification of biallelic deleterious alleles in the gene. DADA2 carriers harbor a single pathogenic variant in and are mostly considered healthy and asymptomatic.
View Article and Find Full Text PDFContext: Most of the loss-of-function mutations described in children with central precocious puberty (CPP) is located into the coding regions of MKRN3 or DLK1 genes. Notably, potential abnormalities in the regulatory regions of these CPP-genes are rarely explored.
Objective: To search for pathogenic variants in the regulatory regions of MKRN3 and DLK1 genes in patients with familial or idiopathic CPP.
Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C).
Stem Cell Res
December 2024
Department of Cardiology, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang Medical University, Weihui 453100, China. Electronic address:
Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A using non-integrative Sendai reprogramming technology from an individual carrying a heterozygous point mutation (c.2690 A>C) in KCNH2.
View Article and Find Full Text PDFNovel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Am J Med Genet A
December 2024
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.
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