Primary immunodeficiencies (PIDs) presenting with cytopenias
- PMID: 20008192
- DOI: 10.1182/asheducation-2009.1.139
Primary immunodeficiencies (PIDs) presenting with cytopenias
Abstract
Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for this association. Among autoimmune manifestations in patients with PID, cytopenias are particularly common. Up to 80% of patients with autoimmune lymphoproliferative syndrome (ALPS) have autoantibodies, and autoimmune hemolytic anemia and immune thrombocytopenia have been reported in 23% and 51% of ALPS patients, and may even mark the onset of the disease. ALPS-associated cytopenias are often refractory to conventional treatment and represent a therapeutic challenge. Autoimmune manifestations occur in 22% to 48% of patients with common variable immunodeficiencies (CVIDs), and are more frequent among CVID patients with splenomegaly and granulomatous disease. Finally, autoimmune cytopenias have been reported also in patients with combined immunodeficiency. In particular, autoimmune hemolytic anemia is very common among infants with nucleoside phosphorylase deficiency. While immune suppression may be beneficial in these cases, full resolution of the autoimmune manifestations ultimately depends on immune reconstitution, which is typically provided by hematopoietic cell transplantation.
Similar articles
-
[Primary immunodeficiencies presenting with autoimmune cytopenias in adults].Rev Med Interne. 2013 Mar;34(3):148-53. doi: 10.1016/j.revmed.2012.05.007. Epub 2012 Jun 15. Rev Med Interne. 2013. PMID: 22703729 Review. French.
-
Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice.J Pediatr Hematol Oncol. 2017 Oct;39(7):490-494. doi: 10.1097/MPH.0000000000000880. J Pediatr Hematol Oncol. 2017. PMID: 28937520
-
[Primary immunodeficiencies. Clinical features and variant forms].Allergol Immunopathol (Madr). 2001 May-Jun;29(3):101-7. doi: 10.1016/s0301-0546(01)79027-1. Allergol Immunopathol (Madr). 2001. PMID: 11434882 Review. Spanish.
-
Autoimmune Cytopenias in Common Variable Immunodeficiency Are a Diagnostic and Therapeutic Conundrum: An Update.Front Immunol. 2022 Jun 20;13:869466. doi: 10.3389/fimmu.2022.869466. eCollection 2022. Front Immunol. 2022. PMID: 35795667 Free PMC article. Review.
-
Autoimmunity in primary T-cell immunodeficiencies.Expert Rev Clin Immunol. 2016 Sep;12(9):989-1006. doi: 10.1080/1744666X.2016.1177458. Epub 2016 Apr 28. Expert Rev Clin Immunol. 2016. PMID: 27063703 Review.
Cited by
-
The phenotype of human STK4 deficiency.Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31. Blood. 2012. PMID: 22294732 Free PMC article.
-
Development and consequences of red blood cell autoantibodies: warm autoimmune hemolytic anemia.Curr Opin Immunol. 2025 Aug;95:102604. doi: 10.1016/j.coi.2025.102604. Epub 2025 Jul 4. Curr Opin Immunol. 2025. PMID: 40616920 Review.
-
cAMP-responsive element modulator α (CREMα) trans-represses the transmembrane glycoprotein CD8 and contributes to the generation of CD3+CD4-CD8- T cells in health and disease.J Biol Chem. 2013 Nov 1;288(44):31880-7. doi: 10.1074/jbc.M113.508655. Epub 2013 Sep 18. J Biol Chem. 2013. PMID: 24047902 Free PMC article. Clinical Trial.
-
Autoimmune cytopenias in common variable immunodeficiency.Front Immunol. 2012 Jul 24;3:189. doi: 10.3389/fimmu.2012.00189. eCollection 2012. Front Immunol. 2012. PMID: 22837758 Free PMC article.
-
Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.Blood. 2014 Oct 9;124(15):2337-44. doi: 10.1182/blood-2014-06-583260. Epub 2014 Aug 27. Blood. 2014. PMID: 25163701 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials
Miscellaneous