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Article Abstract
Introduction: Inborn errors of immunity (IEI) are characterized by a dysfunction of the immune system leading to increased susceptibility to infections, impaired immune regulation and cancer. We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH).
Methods And Results: Overall, family members presented with variable impairment of NK cell and cytotoxic T cell degranulation and cytotoxicity. Exome sequencing identified homozygous variants in , Fructose-1,6-bisphosphatase 1 and Acyl-CoA dehydrogenase family member 9 Variants in lead to Griscelli syndrome type 2, hypopigmentation and HLH predisposition.
Discussion: Lymphoma is frequently seen in patients with hypomorphic mutations of genes predisposing to HLH. We hypothesize that the variants in and might aggravate the clinical and immune phenotype, influence serial killing and lytic granule polarization by CD8 T cells. Understanding of the interplay between the multiple variants identified by whole exome sequencing (WES) is essential for correct interpretation of the immune phenotype and important for critical treatment decisions.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10303925 | PMC |
| http://dx.doi.org/10.3389/fimmu.2023.1151166 | DOI Listing |
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