Výsledky vyhledávání - "Nila Mistry Ambani"

Heterozygous CTLA4 splice site mutation c.458-1G > C presenting with immunodeficiency and variable degree of immune dysregulation in three generation kindred of Caribbean descent

Autor: Nila Mistry Ambani, Upendra Mahat, Kadakkal Radhakrishnan, Seth J. Rotz

Publikováno v: Pediatric Hematology and Oncology. 38:658-662

Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA4 haploinsufficiency (CTLA4 HI) leads to T cel...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f87d04f11ede9721bb8967bbe7f349c4
https://doi.org/10.1080/08880018.2021.1906802

Zobrazit plný text záznamu

Plný text ve formátu HTML

Rare genetic mutation triggering acute liver failure in a toddler requiring a liver transplant

Autor: Reinaldo Garcia-Naviero, Koji Hashimoto, Nila Mistry Ambani, Andrew Zeft, Vera Hupertz, Kadakkal Radhakrishnan, Charles B. Chen

Publikováno v: Pediatric Transplantation. 25

APS-1 is an extremely rare, autosomal recessive condition that often presents with candidiasis, adrenal insufficiency, and hypoparathyroidism. This condition is associated with autoimmune hepatitis in less than 20% of cases, and there have only been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c7cff4d1b861796a942498e354fed9d3
https://doi.org/10.1111/petr.14048

Zobrazit plný text záznamu

Heterozygous

Autor: Upendra, Mahat, Nila Mistry, Ambani, Seth J, Rotz, Kadakkal, Radhakrishnan

Publikováno v: Pediatric hematology and oncology. 38(7)

Cytotoxic T-lymphocyte-associated protein 4 (CTLA4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA4 haploinsufficiency (CTLA4 HI) leads to T cell hyperactivation, immunodeficiency and variable degr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cf4e141710d27d273e6b27d18ac3dd6f
https://pubmed.ncbi.nlm.nih.gov/33900894

Zobrazit plný text záznamu

Heterozygous CTLA-4 splice site mutation c.458-1G>C presenting with variable degree of immune dysregulation and autoimmunity in three generation kindred of Caribbean descent

Autor: Nila Mistry Ambani, Upendra Mahat, Kadakkal Radhakrishnan, Seth J. Rotz

Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is an immune checkpoint, which downregulates T cell activation and T regulatory cell function. CTLA-4 haploinsufficiency (CTLA4 HI) leads to T cell hyperactivation, immune dysregulation, lymphoprol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c917376e226e6a0def5479a9d603687f
https://doi.org/10.22541/au.160331932.20989541/v1

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání