Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.
Two siblings with severe combined immune deficiency, one with maternal engraftment and detectable immunologic functions who was alive at the age of 8 years are presented. Both patients had the same JAK3 gene mutation, suggesting that maternal engraftment may result in immune competence leading to long-term survival in patients with severe combined immune deficiency.
Tezcan
Ilhan
I
Ihsan Dogramaci Children's Hospital, Sihhiye, Ankara, Turkey.
Ersoy
Fugen
F
Sanal
Ozden
O
Turul
Tuba
T
Uckan
Duygu
D
Balci
Sevim
S
Hicsonmez
Gonul
G
Prieur
M
M
Caillat-Zucmann
S
S
Le Deist
Francois
F
De Saint Basile
Genevieve
G
D002648:Child; D006801:Humans; D007112:Immunity, Maternally-Acquired; D053616:Janus Kinase 3; D008297:Male; D010375:Pedigree; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000276:immunology* / Q000401:mortality; D015996:Survival Rate
D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3