Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells

J Clin Invest. 2005 Apr;115(4):1049-59. doi: 10.1172/JCI23139. Epub 2005 Mar 3.

Abstract

X-linked lymphoproliferative disease (XLP) is an often-fatal immunodeficiency characterized by hypogammaglobulinemia, fulminant infectious mononucleosis, and/or lymphoma. The genetic lesion in XLP, SH2D1A, encodes the adaptor protein SAP (signaling lymphocytic activation molecule-associated [SLAM-associated] protein); however, the mechanism(s) by which mutations in SH2D1A causes hypogammaglobulinemia is unknown. Our analysis of 14 XLP patients revealed normal B cell development but a marked reduction in the number of memory B cells. The few memory cells detected were IgM(+), revealing deficient isotype switching in vivo. However, XLP B cells underwent proliferation and differentiation in vitro as efficiently as control B cells, which indicates that the block in differentiation in vivo is B cell extrinsic. This possibility is supported by the finding that XLP CD4(+) T cells did not efficiently differentiate into IL-10(+) effector cells or provide optimal B cell help in vitro. Importantly, the B cell help provided by SAP-deficient CD4(+) T cells was improved by provision of exogenous IL-10 or ectopic expression of SAP, which resulted in increased IL-10 production by T cells. XLP CD4(+) T cells also failed to efficiently upregulate expression of inducible costimulator (ICOS), a potent inducer of IL-10 production by CD4(+) T cells. Thus, insufficient IL-10 production may contribute to hypogammaglobulinemia in XLP. This finding suggests new strategies for treating this immunodeficiency.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Agammaglobulinemia / genetics
  • Agammaglobulinemia / metabolism
  • Animals
  • Antibody Formation
  • Antigens, Differentiation, T-Lymphocyte / immunology
  • B-Lymphocytes / immunology
  • CD4-Positive T-Lymphocytes / immunology*
  • CD40 Antigens / immunology
  • Cell Differentiation / physiology
  • Cell Proliferation
  • Cells, Cultured
  • Child
  • Humans
  • Immunoglobulin Class Switching
  • Immunologic Memory
  • Inducible T-Cell Co-Stimulator Protein
  • Interleukin-10 / biosynthesis*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / immunology*
  • Middle Aged
  • Signaling Lymphocytic Activation Molecule Associated Protein

Substances

  • Antigens, Differentiation, T-Lymphocyte
  • CD40 Antigens
  • ICOS protein, human
  • Inducible T-Cell Co-Stimulator Protein
  • Intracellular Signaling Peptides and Proteins
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Interleukin-10