Autoimmune Lymphoproliferative Syndrome (ALPS), commonly caused by mutations in the FAS gene, is a disease with variable penetrance. Subjects may be asymptomatic, or they may present with lymphadenopathy, splenomegaly, cytopenias, or malignancy. Prompt recognition of ALPS is needed for optimal management. We describe a multi-generational cohort presenting with clinical manifestations of ALPS, and a previously unreported heterozygous missense variant of uncertain significance in FAS (c.758G >T, p.G253V), located in exon 9. Knowledge of the underlying genetic defect permitted prompt targeted therapy to treat acute episodes of cytopenia. This cohort underscores the importance of genetic testing in subjects with clinical features of ALPS and should facilitate the reclassification of this variant as pathogenic.
Itare et al. This is an open access article distributed under the terms of the Creative Commons Attribution License CC-BY 4.0., which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Uncontrolled asthma and/or severe asthma causes significant impairments in quality of life and is often a huge health care burden. Monoclonal antibodies have been an important addition to the therapeutic management of patients with moderate to severe asthma who do not respond to conventional asthma management. Currently the majority of Food and Drug Administration (FDA) approved biologics target T2 high inflammation. However, with the expanding knowledge of asthma pathogenesis, novel therapeutics targeting T2 low inflammation are in development. In this article we will focus on the current understanding of T2 inflammation and approved biologics for moderate to severe asthma.
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