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
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
Author(s)
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.
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.
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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