Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Dec 6;2024(1):137-142.
doi: 10.1182/hematology.2024000538.

Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis

Charlotte Cunningham-Rundles  1   2   3 , Jean-Laurent Casanova  4   5   6   7   8 , Bertrand Boisson  4   5   6
Affiliations
Review

Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis

Charlotte Cunningham-Rundles et al. Hematology Am Soc Hematol Educ Program. .

Abstract

Common variable immunodeficiency (CVID) is one of the most common groups of human inborn errors of immunity. In addition to infections resulting from insufficient levels of immunoglobulins and antibodies, a significant proportion of patients develop autoimmune cytopenias, especially immune thrombocytopenia, hemolytic anemia, or neutropenia. They may be the initial manifestation of CVID in a patient who has not had significant infections, and similar episodes may recur at intervals over time. Treatment of these hematologic complications includes the use of corticosteroids or other medications, often including rituximab; splenectomy is discouraged. Here we outline the overall occurrence of these blood cytopenias in a cohort of 408 patients, as well as the clinical and genetic associations noted in these individuals.

PubMed Disclaimer

Conflict of interest statement

Charlotte Cunningham-Rundles: no competing financial interests to declare.

Jean-Laurent Casanova: no competing financial interests to declare.

Bertrand Boisson: no competing financial interests to declare.

Figures

None
Graphical abstract
Figure 1.
Figure 1.
The hematologic conditions noted in the CVID cohort described here.
See this image and copyright information in PMC

References

    1. Odnoletkova I, Kindle G, Quinti I, et al; Plasma Protein Therapeutics Association (PPTA) Taskforce. The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. Orphanet J Rare Dis. 2018;13(1):201. - PMC - PubMed
    1. Bonilla FA, Barlan I, Chapel H, et al.. International Consensus Document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4(1):38-59. - PMC - PubMed
    1. Seidel MG, Kindle G, Gathmann B, et al.. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763-1770. - PubMed
    1. Seidel MG, Kindle G, Gathmann B, et al; ESID Registry Working Party and collaborators. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763-1770. - PubMed
    1. Allain V, Grandin V, Meignin V, et al.. Lymphoma as an exclusion criteria for CVID diagnosis revisited. J Clin Immunol. 2023;43(1):181-191. - PubMed

MeSH terms

LinkOut - more resources