Publications by authors named "T A Fleisher"
Diagnostic tests for primary immunodeficiency disorders: Classic and genetic testing.
Allergy Asthma Proc
September 2024
Primary immunodeficiency diseases encompass a variety of genetic conditions characterized by a compromised immune system and typically results in increased susceptibility to infection. In fact, they also manifest as autoimmunity, autoinflammation, atopic diseases, and malignancy. Currently, the number of recognized monogenic primary immunodeficiency disorders is set at ∼500 different entities, owing to the exponential use of unbiased genetic testing for disease discovery.
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- * In a study of 9 individuals from 3 families, two variants of AIOLOS (Q402* and E82K) were found to cause haploinsufficiency through different mechanisms, affecting the protein’s DNA binding and stability.
- * Patients with AIOLOS haploinsufficiency experienced symptoms like reduced immune response, recurrent infections, and autoimmunity, highlighting the broader implications of AIOLOS mutations on health.
Preparing the Allergist/Immunologist for the Next Pandemic.
J Allergy Clin Immunol Pract
November 2023
The COVID-19 pandemic had a profound impact on society in general and allergists' practices in particular. The adverse effects included a loss of practice productivity and income, staffing, and in-office procedures due to concerns about the spread of infection and the need for social/physical distancing as well as isolation. Allergy training programs and research activities also suffered.
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- The article discusses the discovery of germline biallelic null mutations in the ARPC5 gene, affecting the Arp2/3 actin nucleator complex, in two patients with severe recurrent infections, early-onset autoimmunity, and other health issues.
- The mutations lead to compromised functions across multiple cell types, but restoring protein expression in vitro can rescue the complex's conformation and functions.
- The study reveals that IL-6 signaling is uniquely affected, with important distinctions between classical and trans-signaling pathways, suggesting potential therapeutic targets for treatment.
Background: TCF3 is a transcription factor contributing to early lymphocyte differentiation. Germline monoallelic dominant negative and biallelic loss-of-function (LOF) null TCF3 mutations cause a fully penetrant severe immunodeficiency. We identified 8 individuals from 7 unrelated families with monoallelic LOF TCF3 variants presenting with immunodeficiency with incomplete clinical penetrance.
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