Congenital B cell lymphocytosis explained by novel germline CARD11 mutations

J Exp Med. 2012 Nov 19;209(12):2247-61. doi: 10.1084/jem.20120831. Epub 2012 Nov 5.

Abstract

Nuclear factor-κB (NF-κB) controls genes involved in normal lymphocyte functions, but constitutive NF-κB activation is often associated with B cell malignancy. Using high-throughput whole transcriptome sequencing, we investigated a unique family with hereditary polyclonal B cell lymphocytosis. We found a novel germline heterozygous missense mutation (E127G) in affected patients in the gene encoding CARD11, a scaffolding protein required for antigen receptor (AgR)-induced NF-κB activation in both B and T lymphocytes. We subsequently identified a second germline mutation (G116S) in an unrelated, phenotypically similar patient, confirming mutations in CARD11 drive disease. Like somatic, gain-of-function CARD11 mutations described in B cell lymphoma, these germline CARD11 mutants spontaneously aggregate and drive constitutive NF-κB activation. However, these CARD11 mutants rendered patient T cells less responsive to AgR-induced activation. By reexamining this rare genetic disorder first reported four decades ago, our findings provide new insight into why activating CARD11 mutations may induce B cell expansion and preferentially predispose to B cell malignancy without dramatically perturbing T cell homeostasis.

Publication types

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

MeSH terms

  • B-Lymphocytes / metabolism*
  • Base Sequence
  • CARD Signaling Adaptor Proteins / genetics*
  • Cluster Analysis
  • Enzyme-Linked Immunosorbent Assay
  • Flow Cytometry
  • Gene Expression Profiling
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation / genetics
  • Guanylate Cyclase / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunoblotting
  • Lymphocytosis / complications
  • Lymphocytosis / genetics*
  • Microscopy, Confocal
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • NF-kappa B / metabolism
  • Pedigree
  • Splenomegaly / complications

Substances

  • CARD Signaling Adaptor Proteins
  • NF-kappa B
  • CARD11 protein, human
  • Guanylate Cyclase