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Progressive B cell depletion in human MALT1 deficiency
Motoshi Sonoda1, Masataka Ishimura1, Katsuhide Eguchi1
1Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Clinical and Experimental Immunology
|September 24, 2021
Summary
Mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1)-deficiency causes severe immune problems. Early diagnosis and hematopoietic cell transplantation (HCT) can cure MALT1-deficiency by restoring B cell and T cell function.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (MALT1)-deficiency is a rare combined immunodeficiency.
- It presents with recurrent infections, dermatitis, and enteropathy.
Observation:
- A 6-month-old infant with atopic dermatitis, enteritis, and growth restriction developed Pneumocystis pneumonia.
- The infant had agammaglobulinemia without lymphopenia and was diagnosed with MALT1-deficiency due to a novel homozygous mutation (c.1102G>T, p.E368X).
Findings:
- MALT1-deficient patients exhibit impaired T cell responses, including reduced interleukin-2 production and nuclear factor kappa B (NF-κB) p65 phosphorylation.
- Aberrant B cell differentiation and depletion are characteristic, with circulatory B cell numbers inversely correlated with age.
- Hematopoietic cell transplantation (HCT) successfully restored mature B cell and T cell differentiation.
Implications:
- Complete MALT1-deficiency leads to significant B cell abnormalities.
- Early diagnosis and HCT offer a curative approach for MALT1-deficiency, particularly for loss-of-function mutations in CARD11.
