42 Severe Combined Immunodeficiency Due To A Monoallelic ITPR3 Variant Presenting With Lymphohistiocytosis And Bone Marrow Failure Treated With Myeloablative Hematopoietic Cell Transplantation

Megan Zavorka Thomas,Frank Robledo-Avila,Santiago Partida-Sanchez, Margaret Boyden,Samir Kahwash, Esther Knapp,Rajinder Bajwa,Roshini Abraham

Clinical Immunology(2024)

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关键词
ITPR3,Severe combined immunodeficiency (SCID),Calcium flux,Lymphohistiocytosis,Hematopoietic cell transplantation,Calcium signaling defect
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