A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy

Clin Immunol. 2018 Dec:197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13.
No abstract available

Keywords: Autoimmune cytopenias; B cells; CTLA-4; Enteropathy; Hypogammaglobulinemia; T cells.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adalimumab / therapeutic use
  • Adolescent
  • Anemia, Hemolytic, Autoimmune / genetics*
  • Anemia, Hemolytic, Autoimmune / therapy
  • Anti-Inflammatory Agents / therapeutic use
  • Autoimmune Diseases / drug therapy
  • Autoimmune Diseases / genetics*
  • Azathioprine / therapeutic use
  • CTLA-4 Antigen / genetics*
  • Child
  • Child, Preschool
  • Common Variable Immunodeficiency / genetics*
  • Common Variable Immunodeficiency / therapy
  • Diarrhea / genetics
  • Diarrhea / pathology
  • Duodenal Diseases / genetics
  • Duodenal Diseases / pathology
  • Female
  • Gene Deletion
  • Heterozygote
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunologic Factors / therapeutic use
  • Immunosuppressive Agents / therapeutic use
  • Lung Diseases / diagnostic imaging
  • Lung Diseases / genetics
  • Purpura, Thrombocytopenic, Idiopathic / genetics*
  • Purpura, Thrombocytopenic, Idiopathic / therapy
  • Sequence Analysis, DNA
  • Tomography, X-Ray Computed
  • Young Adult

Substances

  • Anti-Inflammatory Agents
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Immunoglobulins, Intravenous
  • Immunologic Factors
  • Immunosuppressive Agents
  • Adalimumab
  • Azathioprine