Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment

Détails

ID Serval
serval:BIB_B250F09EE815
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment
Périodique
Br J Haematol
Auteur(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
Statut éditorial
Publié
Date de publication
09/1998
Volume
102
Numéro
5
Pages
1363-6
Langue
anglais
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.
Résumé
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.
Mots-clé
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
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 15:21
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