Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations

Nour Abdulhay; Claudia Fiorini; Attila Kumánovics; Ashleigh A Sun; Jeannette Hansen-Rejali; Karl V Voelkerding; Sergio D Rosenzweig; Harry R Hill; Vijay G Sankaran

doi:10.1182/blood-2016-08-731943

Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations

Blood. 2016 Oct 20;128(16):2100-2103. doi: 10.1182/blood-2016-08-731943. Epub 2016 Aug 31.

Authors

Nour Abdulhay^{1

2

3}, Claudia Fiorini^{1

2

3}, Attila Kumánovics^{4

5}, Ashleigh A Sun⁶, Jeannette Hansen-Rejali^{4

5

7}, Karl V Voelkerding^{4

5}, Sergio D Rosenzweig⁵, Harry R Hill^{4

5

7}, Vijay G Sankaran^{1

2

3}

Affiliations

¹ Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA.
² Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.
³ Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA.
⁴ ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT.
⁵ Department of Pathology, University of Utah, Salt Lake City, UT.
⁶ Immunology Service, Department of Laboratory Medicine, Clinical Center, and Primary Immune Deficiency Clinic, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD; and.
⁷ Departments of Pediatrics and Medicine, University of Utah, Salt Lake City, UT.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural

MeSH terms

Adult
Child
Child, Preschool
Common Variable Immunodeficiency / blood
Common Variable Immunodeficiency / genetics*
Family
Female
Fetal Hemoglobin / genetics*
Gene Silencing / physiology
Heterozygote*
Humans
Ikaros Transcription Factor / genetics*
Male
Mutation, Missense*
Pedigree

Substances

IKZF1 protein, human
Ikaros Transcription Factor
Fetal Hemoglobin

Publication types

MeSH terms

Substances

Grants and funding