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Progressive B cell depletion in human MALT1 deficiency.
- Source :
-
Clinical & Experimental Immunology . Dec2021, Vol. 206 Issue 3, p237-247. 11p. 1 Chart, 5 Graphs. - Publication Year :
- 2021
-
Abstract
- Mucosa‐associated lymphoid tissue lymphoma‐translocation gene 1 (MALT1)‐deficiency is a rare combined immunodeficiency characterized by recurrent infections, dermatitis and enteropathy. We herein investigate the immunological profiles of our patient and previously reported children with MALT1‐deficiency. A mutation analysis was performed by targeted panel sequencing for primary immunodeficiency. Lymphocyte subset, activation and B cell differentiation were analyzed by flow cytometry and t‐distributed stochastic neighbor embedding. Pneumocystis pneumonia developed in a 6‐month‐old Japanese infant with atopic dermatitis, enteritis and growth restriction. This infant showed agammaglobulinemia without lymphopenia. At 8 years of age, the genetic diagnosis of MALT1‐deficiency was confirmed on a novel homozygous mutation of c.1102G>T, p.E368X. T cell stimulation tests showed impairments in the production of interleukin‐2, phosphorylation of nuclear factor kappa B (NF‐κB) p65 and differentiation of B cells. In combination with the literature data, we found that the number of circulatory B cells, but not T cells, were inversely correlated with the age of patients. The hematopoietic cell transplantation (HCT) successfully reconstituted the differentiation of mature B cells and T cells. These data conceptualize that patients with complete MALT1‐deficiency show aberrant differentiation and depletion of B cells. The early diagnosis and HCT lead to a cure of the disease phenotype associated with the loss‐of‐function mutations in human CARD11. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00099104
- Volume :
- 206
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Clinical & Experimental Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 153384033
- Full Text :
- https://doi.org/10.1111/cei.13662