Inherited Human BCL10 Deficiencies
Journal of Clinical Immunology(2024)
Abstract
Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.
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Key words
Primary immunodeficiency,inborn errors of immunity,combined immunodeficiency,BCL10
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