Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.

Autor:	Cunningham-Rundles C; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY.; Division of Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.
Jazyk:	angličtina
Zdroj:	Hematology. American Society of Hematology. Education Program [Hematology Am Soc Hematol Educ Program] 2024 Dec 06; Vol. 2024 (1), pp. 137-142.
DOI:	10.1182/hematology.2024000538
Abstrakt:	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. (Copyright © 2024 by The American Society of Hematology.)
Databáze:	MEDLINE
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