Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

doi:10.1016/j.jaci.2024.12.1082

Article

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

The Journal of allergy and clinical immunology - 1 Apr 2025

Kuehn Hye Sun, Bosticardo Marita, Arrieta Antonio C, Stoddard Jennifer L, Pala Francesca, Niemela Julie E, Gil Silva Agustin A, King Paighton L, Esteve-Sole Ana, Naveen Amreen, Anaya Eduardo, Truong Pooi Meng, Delmonte Ottavia M, Buchbinder David K, Rosenzweig Sergio D, Notarangelo Luigi D

Abstract excerpt

BACKGROUND: Heterozygous immunoproteasome 20 S subunit beta 10 (PSMB10) mutations can cause severe combined immunodeficiency and Omenn syndrome. Hematopoietic stem cell transplantation in these patients is associated with severe complications and poor immune reconstitution, often resulting in death. OBJECTIVE: We sought to perform immunologic and molecular characterization of an infant with a PSMB10 heterozygous...

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Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.

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