Home » Blog » Thymic and T-cell intrinsic critical roles associated with Severe Combined Immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10
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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Heterozygous immunoproteasome subunit beta-type 10 (PSMB10) mutations may cause extreme mixed immunodeficiency (SCID) and Omenn syndrome (OS). Hematopoietic stem cell transplantation in these sufferers is related to extreme problems and poor immune reconstitution, typically leading to demise.
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