title: Clonal hematopoiesis and acquired thalassemia in common variable immunodeficiency.
abstract: BACKGROUND
  Common variable immunodeficiency (CVID) is defined by hypogammaglobulinemia and increased susceptibility to infections. The gene defect responsible for CVID remains unknown.
  
  
  METHODS
  During the course of their CVID disease, a female and three male patients developed microcytic anemia. The investigation of this anemia forms the basis for this report.
  
  
  RESULTS
  Reticulocyte globin chain synthesis studies revealed the abnormal alpha/beta ratios that are pathognomonic of thalassemia. Through transcriptional analysis of the glucose-6-phosphate-dehydrogenase (G6PD) locus of the active X-chromosome in blood cells, we determined that the female patient has clonal reticulocytes, platelets, granulocytes, and B and T lymphocytes.
  
  
  CONCLUSIONS
  The simultaneous presence of globin synthesis abnormalities and panhypogammaglobulinemia suggests that a common insult at the stem cell level could contribute to the development of CVID and acquired thalassemia.
authors.affiliation: Prague Institute of Hematology, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Belickova
authors.forename: H W
authors.initials: HW
authors.lastname: Schroeder
authors.forename: Y L
authors.initials: YL
authors.lastname: Guan
authors.forename: J
authors.initials: J
authors.lastname: Brierre
authors.forename: S
authors.initials: S
authors.lastname: Berney
authors.forename: M D
authors.initials: MD
authors.lastname: Cooper
authors.forename: J T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000740:Anemia / Q000150:complications / Q000378:metabolism; D001402:B-Lymphocytes / Q000473:pathology; D001792:Blood Platelets / Q000473:pathology; D002648:Child; D017074:Common Variable Immunodeficiency / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D005260:Female; D005914:Globins / Q000096:biosynthesis; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D006098:Granulocytes / Q000473:pathology; D006239:Haplotypes; D006410:Hematopoiesis / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012156:Reticulocytes / Q000473:pathology; D013601:T-Lymphocytes / Q000473:pathology; D013789:Thalassemia / Q000150:complications / Q000209:etiology*; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: D005914:Globins; D005954:Glucosephosphate Dehydrogenase