Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment
Details
Serval ID
serval:BIB_B250F09EE815
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment
Journal
Br J Haematol
ISSN
0007-1048 (Print)
ISSN-L
0007-1048
Publication state
Published
Issued date
09/1998
Volume
102
Number
5
Pages
1363-6
Language
english
Notes
Bozzi, F
Lefranc, G
Villa, A
Badolato, R
Schumacher, R F
Khalil, G
Loiselet, J
Bresciani, S
O'Shea, J J
Vezzoni, P
Notarangelo, L D
Candotti, F
eng
E.0495/Telethon/Italy
Case Reports
Research Support, Non-U.S. Gov't
England
Br J Haematol. 1998 Sep;102(5):1363-6.
Lefranc, G
Villa, A
Badolato, R
Schumacher, R F
Khalil, G
Loiselet, J
Bresciani, S
O'Shea, J J
Vezzoni, P
Notarangelo, L D
Candotti, F
eng
E.0495/Telethon/Italy
Case Reports
Research Support, Non-U.S. Gov't
England
Br J Haematol. 1998 Sep;102(5):1363-6.
Abstract
Severe combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T-B+ SCID) is due to mutations of either the common gamma chain (gammac) or of gammac-coupled JAK3 kinase. We report an unusual JAK3 defect in a female who was successfully treated > 20 years ago with a BMT using her HLA-identical father as the donor. Persistence of genetically and biochemically defective autologous B cells, associated with reconstitution of cellular and humoral immunity, suggests that integrity of the gammac-JAK3 signalling pathway is not strictly required for immunoglobulin production.
Keywords
B-Lymphocytes/pathology, Blotting, Western, Bone Marrow Transplantation/methods, Female, Gene Deletion, Humans, Janus Kinase 3, *Mutation, Phosphorylation, Protein-Tyrosine Kinases/*deficiency/genetics, Reverse Transcriptase Polymerase Chain Reaction, Severe Combined Immunodeficiency/*genetics/metabolism/therapy, T-Lymphocytes/pathology
Pubmed
Create date
01/11/2017 10:29
Last modification date
20/08/2019 15:21
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