Publications by authors named "Mary L Markert"
Children with complete DiGeorge anomaly (cDGA) have congenital athymia, resulting in severe T cell immunodeficiency and susceptibility to a broad range of infections. We report the clinical course, immunologic phenotypes, treatment, and outcomes of three cases of disseminated nontuberculous mycobacterial infections (NTM) in patients with cDGA who underwent cultured thymus tissue implantation (CTTI). Two patients were diagnosed with complex (MAC) and one patient with .
View Article and Find Full Text PDF22q11.2 deletion syndrome (22q11.2DS) is the most common human chromosomal microdeletion, causing developmentally linked congenital malformations, thymic hypoplasia, hypoparathyroidism, and/or cardiac defects.
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- * Results showed that AK2 deficiency and a null IL2RG mutation led to early T-cell development blocks, while a missense IL2RG mutation allowed for some maturation despite lower cell numbers.
- * The ATO system proves useful in distinguishing between hematopoietic and thymic defects in T-cell deficiency and identifying specific stages where T-cell differentiation is hindered.
Article Synopsis
- Human immunodeficiencies with specific gene mutations allow researchers to explore how these genes impact the development of T-cell receptors (TCR) and how changes in TCR relate to different clinical outcomes.
- The study examined TCRβ regions in patients with Omenn syndrome, severe combined immunodeficiency, and a healthy group to understand the impact of various gene mutations on TCR diversity.
- Results showed that while Omenn syndrome patients had lower TCR diversity, those with atypical conditions exhibited unique TCR characteristics without significant diversity changes, highlighting the complexity of immune responses in these disorders.*
Background: T-cell receptor diversity correlates with immune competency and is of particular interest in patients undergoing immune reconstitution. Spectratyping generates data about T-cell receptor CDR3 length distribution for each BV gene but is technically complex. Flow cytometry can also be used to generate data about T-cell receptor BV gene usage, but its utility has not been compared to or tested in combination with spectratyping.
View Article and Find Full Text PDFDiGeorge syndrome is a congenital anomaly with a constellation of findings that includes thymic hypoplasia. Only a small subset of patients with DiGeorge syndrome has complete athymia, classified as complete DiGeorge anomaly; one third of these patients show an eczematous dermatitis, oligoclonal T-cells and lymphadenopathy, known as atypical complete DiGeorge anomaly. Six biopsies from six patients with the distinctive clinical phenotype of atypical complete DiGeorge anomaly were studied.
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