Inherited Human BCL10 Deficiencies

J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z.


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.

Keywords: BCL10; Primary immunodeficiency; combined immunodeficiency; inborn errors of immunity.

Publication types

  • Case Reports
  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Cell CLL-Lymphoma 10 Protein / genetics
  • Bone Marrow Transplantation
  • Humans
  • Immunologic Deficiency Syndromes* / diagnosis
  • Immunologic Deficiency Syndromes* / genetics
  • Immunologic Deficiency Syndromes* / therapy
  • Mutation / genetics


  • B-Cell CLL-Lymphoma 10 Protein
  • BCL10 protein, human