Abnormal B-Cell Maturation in the Bone Marrow of Patients with Germline Mutations in PIK3CD

Patients with germline mutations in PIK3CD, immunodeficiency, lymphoproliferation, and autoimmunity show a distinct pattern of abnormal B-cell maturation in the bone marrow.

Saved in:
Bibliographic Details
Published inJournal of allergy and clinical immunology Vol. 139; no. 3; pp. 1032 - 1035.e6
Main Authors Dulau Florea, Alina E., MD, Braylan, Raul C., MD, Schafernak, Kristian T., MD, MPH, Williams, Kelli W., MD, MPH, Daub, Janine, MSN, Goyal, Rakesh K., MD, Puck, Jennifer M., MD, Rao, V. Koneti, MD, Pittaluga, Stefania, MD, PhD, Holland, Steven M., MD, Uzel, Gulbu, MD, Calvo, Katherine R., M.D., Ph.D
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.03.2017
Elsevier Limited
Subjects
Adolescent
Age
Allergy and Immunology
B-Lymphocytes - pathology
Biopsy
Blood
Bone marrow
Bone Marrow Cells - pathology
Cell Differentiation - genetics
Cell Differentiation - immunology
Child
Child, Preschool
Class I Phosphatidylinositol 3-Kinases - genetics
Cytomegalovirus
Female
Flow cytometry
Germ-Line Mutation
Hematologic Diseases - genetics
Humans
Hybridization
Immunoglobulins
Kinases
Laboratories
Lymphocytes
Lymphoma
Male
Mutation
Patients
Precursor Cells, B-Lymphoid - pathology
Young Adult
APDS
activated PI3Kdelta syndrome
IHC
lymphoma
B-cell maturation
PIK3CD
p110 delta-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency
B cells
BM
bone marrow
PI3K
gain of function
PASLI
immunodeficiency
immunohistochemistry
PASLE
phosphoinositide 3-kinase
GOF
ISH
in situ hybridization
Online AccessGet full text

Cover

More Information
Summary:Patients with germline mutations in PIK3CD, immunodeficiency, lymphoproliferation, and autoimmunity show a distinct pattern of abnormal B-cell maturation in the bone marrow.
Bibliography:SourceType-Other Sources-1
ObjectType-Article-2
content type line 63
ObjectType-Correspondence-1
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2016.08.028