Long-term survival in severe combined immune deficiency: The role of persistent maternal engraftment

Two siblings with severe combıned immune defıcıency, 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 lo...

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Veröffentlicht in:	The Journal of pediatrics 2005, Vol.146 (1), p.137-140
Hauptverfasser:	Tezcan, Ilhan, Ersoy, Fugen, Sanal, Ozden, Turul, Tuba, Uckan, Duygu, Balci, Sevim, Hicsonmez, Gonul, Prieur, M., Caillat-Zucmann, S., Le Deist, Francois, de Saint Basile, Genevieve
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child General aspects Humans Immunity, Maternally-Acquired Janus Kinase 3 Male Medical sciences Pedigree Protein-Tyrosine Kinases - genetics Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - immunology Severe Combined Immunodeficiency - mortality Survival Rate
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Zusammenfassung:	Two siblings with severe combıned immune defıcıency, 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 combıned immune defıcıency.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2004.09.010