Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency

J Pediatr Hematol Oncol. 2020 Nov;42(8):e768-e771. doi: 10.1097/MPH.0000000000001708.

Abstract

In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency, autoimmunity, chronic enteropathy, and immune dysregulation disorders. The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses. Both LRBA and CTLA4 deficiencies usually present with immune dysregulation, mostly characterized by autoimmunity and lymphoproliferation. In this report, we describe a patient with an atypical clinical onset of LRBA deficiency and the patient's response to abatacept, a fusion protein-drug that mimics the action of CTLA4.

Publication types

  • Case Reports

MeSH terms

  • Abatacept / therapeutic use*
  • Adaptor Proteins, Signal Transducing / deficiency*
  • Age of Onset
  • CTLA-4 Antigen / agonists*
  • CTLA-4 Antigen / deficiency
  • Child, Preschool
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / drug therapy*
  • Immunologic Deficiency Syndromes / metabolism
  • Immunologic Deficiency Syndromes / pathology
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Prognosis
  • Protein Deficiency / complications
  • Protein Deficiency / drug therapy*
  • Protein Deficiency / metabolism
  • Protein Deficiency / pathology
  • Protein-Losing Enteropathies / complications
  • Protein-Losing Enteropathies / drug therapy*
  • Protein-Losing Enteropathies / metabolism
  • Protein-Losing Enteropathies / pathology

Substances

  • Adaptor Proteins, Signal Transducing
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Immunosuppressive Agents
  • Abatacept
  • LRBA protein, human