Search Results - "Sanmillan, Maria L."

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis by Benavides, Nathalia, Spessott, Waldo A, Sanmillan, Maria L, Vargas, Marcelo, Livingston, Mylynda S, Erickson, Nissa, Pozos, Tamara C, McCormick, Margaret E, Scharrig, Emilia, Messinger, Yoav H, Giraudo, Claudio G

“…Neonatal hemophagocytic lymphohistiocytosis (HLH) is a medical emergency that can be associated with significant morbidity and mortality. Often these patients…”
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Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion by Spessott, Waldo A., Sanmillan, Maria L., McCormick, Margaret E., Patel, Nishant, Villanueva, Joyce, Zhang, Kejian, Nichols, Kim E., Giraudo, Claudio G.

“…Familial hemophagocytic lymphohistiocytosis (F-HLH) and Griscelli syndrome type 2 (GS) are life-threatening immunodeficiencies characterized by impaired…”
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Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency by Benavides, Nathalia, White, Jason C., Sanmillan, Maria L., Thomas, Morgan, Le, Trong, Caywood, Emi, Giraudo, Claudio G.

“…Zeta-chain associated protein kinase 70 kDa (ZAP70) combined immunodeficiency (CID) is an autosomal recessive severe immunodeficiency that is characterized by…”
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SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity by Spessott, Waldo A., Sanmillan, Maria L., McCormick, Margaret E., Kulkarni, Vineet V., Giraudo, Claudio G.

“…The atypical lipid-anchored Syntaxin 11 (STX11) and its binding partner, the Sec/Munc (SM) protein Munc18-2, facilitate cytolytic granule release by cytotoxic…”
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Syntaxin 4 mediates endosome recycling for lytic granule exocytosis in cytotoxic T‐lymphocytes by Spessott, Waldo A., Sanmillan, Maria L., Kulkarni, Vineet V., McCormick, Margaret E., Giraudo, Claudio G.

“…Adaptive and innate immunity utilize the perforin‐killing pathway to eliminate virus‐infected or cancer cells. Cytotoxic T‐lymphocytes (CTLs) and natural…”
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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation by Ouahed, Jodie, Kelsen, Judith R, Spessott, Waldo A, Kooshesh, Kameron, Sanmillan, Maria L, Dawany, Noor, Sullivan, Kathleen E, Hamilton, Kathryn E, Slowik, Voytek, Nejentsev, Sergey, Neves, João Farela, Flores, Helena, Chung, Wendy K, Wilson, Ashley, Anyane-Yeboa, Kwame, Wou, Karen, Jain, Preti, Field, Michael, Tollefson, Sophia, Dent, Maiah H, Li, Dalin, Naito, Takeo, McGovern, Dermot P B, Kwong, Andrew C, Taliaferro, Faith, Ordovas-Montanes, Jose, Horwitz, Bruce H, Kotlarz, Daniel, Klein, Christoph, Evans, Jonathan, Dorsey, Jill, Warner, Neil, Elkadri, Abdul, Muise, Aleixo M, Goldsmith, Jeffrey, Thompson, Benjamin, Engelhardt, Karin R, Cant, Andrew J, Hambleton, Sophie, Barclay, Andrew, Toth-Petroczy, Agnes, Vuzman, Dana, Carmichael, Nikkola, Bodea, Corneliu, Cassa, Christopher A, Devoto, Marcella, Maas, Richard L, Behrens, Edward M, Giraudo, Claudio G, Snapper, Scott B

“…Abstract Background and Aims Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children…”
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25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS by Kelsen, Judith R., Ouahed, Jodie, Spessott, Waldo A., Kooshesh, Kameron, Sanmillan, Maria L., Dawany, Noor, Sullivan, Kathleen E., Hamilton, Kathryn, Slowik, Voytek, Nejentsev, Sergey, Farela Neves, João, Flores, Helena, Chung, Wendy K., Wilson, Ashley, Yeboa, Kwame Anyane, Wou, Karen, Jain, Preti, Tollefson, Sophia, Evans, Jonathan, Warner, Neil, Muise, Alexio, Goldsmith, Jeffrey, Toth-Petroczy, Agnes, Vuzman, Dana, Carmichael, Nikkola, Bodea, Corneliu, Cassa, Christopher, Devoto, Marcella, Maas, Richard L., Behrens, Edward M., Snapper, Scott B., Giraudo, Claudio G.

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25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS by Kelsen, Judith R, Ouahed, Jodie, Spessott, Waldo A, Kooshesh, Kameron, Sanmillan, Maria L, Dawany, Noor, Sullivan, Kathleen E, Hamilton, Kathryn, Slowik, Voytek, Nejentsev, Sergey, Neves, João Farela, Flores, Helena, Chung, Wendy K, Wilson, Ashley, Yeboa, Kwame Anyane, Wou, Karen, Jain, Preti, Tollefson, Sophia, Evans, Jonathan, Warner, Neil, Muise, Alexio, Goldsmith, Jeffrey, Toth-Petroczy, Agnes, Vuzman, Dana, Carmichael, Nikkola, Bodea, Corneliu, Cassa, Christopher, Devoto, Marcella, Maas, Richard L, Behrens, Edward M, Snapper, Scott B, Giraudo, Claudio G

“…Abstract Very early-onset inflammatory bowel disease (VEO-IBD), defined by the onset of IBD before 6 years of age, is often associated with more severe and…”
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STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis by Benavides, Nathalia, Spessott, Waldo A, Sanmillan, Maria L, Vargas, Marcelo, Livingston, Mylynda S, Erickson, Nissa, Pozos, Tamara C, McCormick, Margaret E, Scharrig, Emilia, Messinger, Yoav H, Giraudo, Claudio G

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