Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hubert Bobby Gaspar"'
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment wi
Externí odkaz:
https://doaj.org/article/868e507361cf4f5db37f59f78c9addc7
Publikováno v:
Frontiers in Immunology, Vol 7 (2016)
Adenosine deaminase (ADA) deficiency is best known as a form of severe combined immunodeficiency (SCID) which results from mutations in the gene encoding adenosine deaminase. Affected patients present with clinical and immunological manifestations ty
Externí odkaz:
https://doaj.org/article/c0aaf0bcbc6f4493bd88cfa42f87a98a
Autor:
Helen eChapel, Johan ePrevot, Hubert Bobby Gaspar, Teresa eEspanol, Francisco A Bonilla, Leire eSolis, Josina eDrabwell
Publikováno v:
Frontiers in Immunology, Vol 5 (2014)
Primary Immune Deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components (mainly cells and proteins). Once recognised, these rare d
Externí odkaz:
https://doaj.org/article/4d0c860f2fbc478bb4afe418ec171494
Autor:
Hubert Bobby Gaspar, Waleed eAl-Herz, Aziz eBousfiha, Jean-Laurent eCasanova, Talal eChatila, Mary Ellen eConley, Charlotte eCunningham-Rundles, Amos eEtzioni, Jose Luis Franco, Steven eHolland, Christoph eKlein, SHIGEAKI eNONOYAMA, Hans eOchs, Eric eOksenhendler, Capucine ePicard, Jennifer ePuck, Kathleen eSullivan, Mimi eTang
Publikováno v:
Frontiers in Immunology, Vol 5 (2014)
Externí odkaz:
https://doaj.org/article/e7ae0a50131c40a981bbe1db30fa7419
Autor:
Waleed eAl-Herz, Aziz eBousfiha, Jean-Laurent eCasanova, Talal eChatila, Mary Ellen eConley, Charlotte eCunningham-Rundles, Amos eEtzioni, Jose Luis Franco, Hubert Bobby Gaspar, Steven eHolland, Christoph eKlein, Shigeaki eNonoyama, Hans eOchs, Eric eOksenhendler, Capucine ePicard, Jennifer ePuck, Kathleen eSullivan, Mimi eTang
Publikováno v:
Frontiers in Immunology, Vol 5 (2014)
We report the updated classification of primary immunodeficiencies compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updat
Externí odkaz:
https://doaj.org/article/9d2ea0303d5a402ebca3134c83051a8f