Search Results - "Parrott, Roberta E."

A nonsense mutation in IKBKB causes combined immunodeficiency by Mousallem, Talal, Yang, Jialong, Urban, Thomas J., Wang, Hongxia, Adeli, Mehdi, Parrott, Roberta E., Roberts, Joseph L., Goldstein, David B., Buckley, Rebecca H., Zhong, Xiao-Ping

“…Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system…”
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature by Petrovski, Slavé, Parrott, Roberta E., Roberts, Joseph L., Huang, Hongxiang, Yang, Jialong, Gorentla, Balachandra, Mousallem, Talal, Wang, Endi, Armstrong, Martin, McHale, Duncan, MacIver, Nancie J., Goldstein, David B., Zhong, Xiao-Ping, Buckley, Rebecca H.

“…The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic…”
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Clinical application of whole-genome sequencing in patients with primary immunodeficiency by Mousallem, Talal, MD, Urban, Thomas J., PharmD, PhD, McSweeney, K. Melodi, BS, Kleinstein, Sarah E., MS, Zhu, Mingfu, PhD, Adeli, Mehdi, MD, Parrott, Roberta E., BS, Roberts, Joseph L., MD, PhD, Krueger, Brian, PhD, Buckley, Rebecca H., MD, Goldstein, David B., PhD

“…Of note, the commercial NCF1 screen examined mutations only in exon 2, which harbors the 2GT deletion that causes most reported cases of NCF1-related chronic…”
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CD45-deficient severe combined immunodeficiency caused by uniparental disomy by Roberts, Joseph L, Buckley, Rebecca H, Luo, Biao, Pei, Jianming, Lapidus, Alla, Peri, Suraj, Wei, Qiong, Shin, Jinwook, Parrott, Roberta E, Dunbrack, Roland L, Testa, Joseph R, Zhong, Xiao-Ping, Wiest, David L

“…Analysis of the molecular etiologies of SCID has led to important insights into the control of immune cell development. Most cases of SCID result from either…”
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Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency by Mousallem, Talal, Dr, Yang, Jialong, Dr, Urban, Thomas J., Dr, Wang, Hongxia, Mrs, Parrott, Roberta E., Mrs, Roberts, Joseph L., Dr, Buckley, Rebecca H., Dr, Zhong, Xiaoping, Dr, Goldstein, David B., Dr

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Thymic Function after Hematopoietic Stem-Cell Transplantation for the Treatment of Severe Combined Immunodeficiency by Patel, Dhavalkumar D, Gooding, Maria E, Parrott, Roberta E, Curtis, Kimberly M, Haynes, Barton F, Buckley, Rebecca H

“…Infants with severe combined immunodeficiency who receive HLA-identical bone marrow or bone marrow stem cells from a family member with whom they share an HLA…”
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Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC by Cuvelier, Geoffrey D.E., Logan, Brent R., Prockop, Susan E., Buckley, Rebecca H., Kuo, Caroline Y., Griffith, Linda M., Liu, Xuerong, Yip, Alison, Hershfield, Michael S., Ayoub, Paul G., Moore, Theodore B., Dorsey, Morna J., O'Reilly, Richard J., Kapoor, Neena, Pai, Sung-Yun, Kapadia, Malika, Ebens, Christen L., Forbes Satter, Lisa R., Burroughs, Lauri M., Petrovic, Aleksandra, Chellapandian, Deepak, Heimall, Jennifer, Shyr, David C., Rayes, Ahmad, Bednarski, Jeffrey J., Chandra, Sharat, Chandrakasan, Shanmuganathan, Gillio, Alfred P., Madden, Lisa, Quigg, Troy C., Caywood, Emi H., Dávila Saldaña, Blachy J., DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick D., Rozmus, Jacob, Shah, Ami J., Vander Lugt, Mark T., Thakar, Monica S., Parrott, Roberta E., Martinez, Caridad, Leiding, Jennifer W., Torgerson, Troy R., Pulsipher, Michael A., Notarangelo, Luigi D., Cowan, Morton J., Dvorak, Christopher C., Haddad, Elie, Puck, Jennifer M., Kohn, Donald B.

“…Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT),…”
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Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study by Eissa, Hesham, Thakar, Monica S, Shah, Ami J, Logan, Brent R, Griffith, Linda M, Dong, Huaying, Parrott, Roberta E, O'Reilly, Richard J, Dara, Jasmeen, Kapoor, Neena, Forbes Satter, Lisa, Chandra, Sharat, Kapadia, Malika, Chandrakasan, Shanmuganathan, Knutsen, Alan, Jyonouchi, Soma C, Molinari, Lyndsay, Rayes, Ahmad, Ebens, Christen L, Teira, Pierre, Dávila Saldaña, Blachy J, Burroughs, Lauri M, Chaudhury, Sonali, Chellapandian, Deepak, Gillio, Alfred P, Goldman, Fredrick, Malech, Harry L, DeSantes, Kenneth, Cuvelier, Geoff D E, Rozmus, Jacob, Quinones, Ralph, Yu, Lolie C, Broglie, Larisa, Aquino, Victor, Shereck, Evan, Moore, Theodore B, Vander Lugt, Mark T, Mousallem, Talal I, Oved, Joeseph H, Dorsey, Morna, Abdel-Azim, Hisham, Martinez, Caridad, Bleesing, Jacob H, Prockop, Susan, Kohn, Donald B, Bednarski, Jeffrey J, Leiding, Jennifer, Marsh, Rebecca A, Torgerson, Troy, Notarangelo, Luigi D, Pai, Sung-Yun, Pulsipher, Michael A, Puck, Jennifer M, Dvorak, Christopher C, Haddad, Elie, Buckley, Rebecca H, Cowan, Morton J, Heimall, Jennifer

“…The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children in the United States and Canada onto a retrospective multicenter natural history…”
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B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation by Miggelbrink, Alexandra M., Logan, Brent R., Buckley, Rebecca H., Parrott, Roberta E., Dvorak, Christopher C., Kapoor, Neena, Abdel-Azim, Hisham, Prockop, Susan E., Shyr, David, Decaluwe, Hélène, Hanson, Imelda C., Gillio, Alfred, Dávila Saldaña, Blachy J., Eibel, Hermann, Hopkins, Gregory, Walter, Jolan E., Whangbo, Jennifer S., Kohn, Donald B., Puck, Jennifer M., Cowan, Morton J., Griffith, Linda M., Haddad, Elie, O'Reilly, Richard J., Notarangelo, Luigi D., Pai, Sung-Yun

“…Allogeneic hematopoietic stem cell transplant (HSCT) typically results in donor T-cell engraftment and function in patients with severe combined…”
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Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation by Labrosse, Roxane, Boufaied, Ines, Bourdin, Benoîte, Gona, Saideep, Randolph, Haley E., Logan, Brent R., Bourbonnais, Sara, Berthe, Chloé, Chan, Wendy, Buckley, Rebecca H., Parrott, Roberta E., Cuvelier, Geoffrey D.E., Kapoor, Neena, Chandra, Sharat, Dávila Saldaña, Blachy J., Eissa, Hesham, Goldman, Fred D., Heimall, Jennifer, O’Reilly, Richard, Chaudhury, Sonali, Kolb, Edward A., Shenoy, Shalini, Griffith, Linda M., Pulsipher, Michael, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Cowan, Morton J., Dvorak, Christopher C., Haddad, Élie, Puck, Jennifer M., Barreiro, Luis B., Decaluwe, Hélène

“…Severe combined immunodeficiency (SCID) comprises rare inherited disorders of immunity that require definitive treatment through hematopoietic cell…”
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Post-Transplantation B Cell Function in Different Molecular Types of SCID by Buckley, Rebecca H., Win, Chan M., Moser, Barry K., Parrott, Roberta E., Sajaroff, Elisa, Sarzotti-Kelsoe, Marcella

“…Purpose Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T, B and sometimes NK cell…”
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Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras by Sarzotti-Kelsoe, Marcella, Win, Chan M., Parrott, Roberta E., Cooney, Myriah, Moser, Barry K., Roberts, Joseph L., Sempowski, Gregory D., Buckley, Rebecca H.

“…Severe combined immunodeficiency (SCID) is a syndrome of diverse genetic cause characterized by profound deficiencies of T, B, and sometimes NK-cell function…”
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T Cell Repertoire Development in Humans with SCID After Nonablative Allogeneic Marrow Transplantation by Sarzotti, Marcella, Patel, Dhavalkumar D, Li, Xiaojing, Ozaki, Daniel A, Cao, Shui, Langdon, Scott, Parrott, Roberta E, Coyne, Katherine, Buckley, Rebecca H

“…Transplantation of HLA-identical or haploidentical T cell-depleted allogeneic bone marrow (BM) into SCID infants results in thymus-dependent T cell development…”
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Next Generation Sequencing May Be More Efficient and Economical Than Targeted Gene Testing in Patients with Primary Immune Deficiency (PID) by Mousallem, Talal, MD, Urban, Thomas J., PharmD, PhD, Roberts, Joseph L., MD, PhD, Parrott, Roberta E., BS, Goldstein, David B., PhD, Buckley, Rebecca H., MD, FAAAAI

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T−B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex by Roberts, Joseph L., Lauritsen, Jens Peter H., Cooney, Myriah, Parrott, Roberta E., Sajaroff, Elisa O., Win, Chan M., Keller, Michael D., Carpenter, Jeffery H., Carabana, Juan, Krangel, Michael S., Sarzotti, Marcella, Zhong, Xiao-Ping, Wiest, David L., Buckley, Rebecca H.

“…CD3ζ is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in…”
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Genotype, Phenotype and T Cell Counts at One Year Predict Survival and Long Term Immune Reconstitution after Transplantation in Severe Combined Immune Deficiency (SCID)—The Primary Immune Deficiency Treatment Consortium (PIDTC) by Haddad, Elie, Logan, Brent R, Griffith, Linda M, Buckley, Rebecca H, Parrott, Roberta E, Dvorak, Christopher C, Puck, Jennifer, Prockop, Susan E, Kapoor, Neena, Abdel-Azim, Hisham, Hanson, Imelda C, Martinez, Caridad, Bleesing, Jack, Chandra, Sharat, Smith, Angela R, Pai, Sung-Yun, Jyonouchi, Soma, Sullivan, Kathleen, Haight, Ann E, Tumlin, Audrey G, Burroughs, Lauri, Saldana, Blachy J. Davila, Seroogy, Christine, Petrovic, Aleksandra, Shyr, David C, Quigg, Troy C, Gillio, Alfred P, Decaluwe, Helene, Kletzel, Morris, Knutsen, Alan, Moore, Theodore B, Aquino, Victor, Davis, Jeffrey H, Yu, Lolie C, Kang, Elizabeth M, Schroeder, Marlis L, Shereck, Evan, Craddock, John A, Connelly, James A, Bednarski, Jeffrey J, Goldman, Frederick, Porteus, Matthew H, Fleisher, Thomas, Kohn, Donald B, Malech, Harry L, Pulsipher, Michael A, Shearer, William, Szabolcs, Paul, Thakar, Monica, Vander Lugt, Mark, Yin, Ziyan, Notarangelo, Luigi D, Cowan, Morton J, O'Reilly, Richard J

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Measuring the impact of newborn screening on survival after hematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium by Thakar, Monica S., Logan, Brent R., Puck, Jennifer M., Dunn, Elizabeth A., Buckley, Rebecca H., Cowan, Morton J., O’Reilly, Richard J., Kapoor, Neena, Satter, Lisa Forbes, Pai, Sung-Yun, Heimall, Jennifer, Chandra, Sharat, Ebens, Christen L., Chellapandian, Deepak, Williams, Olatundun, Burroughs, Lauri M., Saldana, Blachy Davila, Rayes, Ahmad, Madden, Lisa M., Chandrakasan, Shanmuganathan, Bednarski, Jeffrey J., DeSantes, Kenneth B., Cuvelier, Geoffrey D. E., Teira, Pierre, Gillio, Alfred P., Eissa, Hesham, Knutsen, Alan P., Goldman, Frederick D., Aquino, Victor M., Shereck, Evan B., Moore, Theodore B, Caywood, Emi H., Vander Lugt, Mark T., Rozmus, Jacob, Broglie, Larisa, Yu, Lolie C., Shah, Ami J., Andolina, Jeffrey R., Liu, Xuerong, Parrott, Roberta E., Dara, Jasmeen, Prockop, Susan, Martinez, Caridad A., Kapadia, Malika, Jyonouchi, Soma C., Sullivan, Kathleen E., Bleesing, Jack J., Chaudhury, Sonali, Petrovic, Aleksandra, Keller, Michael D., Quigg, Troy C., Parikh, Suhag, Shenoy, Shalini, Seroogy, Christine, Rubin, Tamar, Decaluwe, Hélène, Routes, John M., Torgerson, Troy R., Leiding, Jennifer W., Pulsipher, Michael A., Kohn, Donald B., Griffith, Linda M., Haddad, Elie, Dvorak, Christopher C., Notarangelo, Luigi D.

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Aberrant T-cell exhaustion in SCID survivors with poor T-cell reconstitution post transplant by Labrosse, Roxane, Boufaied, Ines, Bourdin, Benoîte, Gona, Saideep, Randolph, Haley E., Logan, Brent R., Bourbonnais, Sara, Berthe, Chloé, Chan, Wendy, Buckley, Rebecca H., Parrott, Roberta E., Cuvelier, Geoffrey D.E., Kapoor, Neena, Chandra, Sharat, Saldaña, Blachy J. Dávila, Eissa, Hesham, Goldman, Fred D., Heimall, Jennifer, O’Reilly, Richard, Chaudhury, Sonali, Kolb, Edward A., S, Shalini Shenoy, Griffith, Linda M., Pulsipher, Michael, Kohn, Donald B., Notarangelo, Luigi D., Pai, Sung-Yun, Cowan, Morton J., Dvorak, Christopher C., Haddad, Élie, Puck, Jennifer M., Barreiro, Luis B., Decaluwe, Hélène

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Retrospective Study of 240 Patients with Severe Combined Immunodeficiency Transplanted from 2000-2009: A Report from the Primary Immune Deficiency Treatment Consortium of North America by Pai, Sung-Yun, MD, Logan, Brent R., PhD, Griffith, Linda M., MD, PhD, Buckley, Rebecca H., MD, Parrott, Roberta E., BS, Dvorak, Christopher C., MD, Kapoor, Neena, MD, Hanson, Imelda C., MD, Filipovich, Alexandra, MD, Jyonouchi, Soma, MD, Small, Trudy, MD, Burroughs, Lauri, MD, Haight, Ann E., MD, Pulsipher, Michael A., MD, Chan, Ka Wah, MD, Fuleihan, Ramsay, MD, Haddad, Elie, MD PhD, Loechelt, Brett, MD, Aquino, Victor, MD, Gillio, Alfred P., MD, Davis, Jeffrey H., MD, Knutsen, Alan, MD, Smith, Angela, MD, MS, Moore, Theodore B., MD, Schroeder, Marlis, MD, Goldman, Frederick, MD, Connelly, James A., MD, Porteus, Matthew H., MD, Xiang, Qun, MS, Shearer, William, MD, PhD, Fleisher, Thomas, MD, Kohn, Donald B., MD, Puck, Jennifer, MD, Notarangelo, Luigi D., MD, Cowan, Morton J., MD, O'Reilly, Richard, MD

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Long term Outcome of Non-Ablative Booster Bone Marrow Transplantation in Patients with Severe Combined Immunodeficiency by Teigland, Claire L., Parrott, Roberta E., Buckley, Rebecca H.

“…Severe combined immunodeficiency (SCID) is a fatal syndrome caused by mutations in at least 13 different genes. It is characterized by the absence of T-cells…”
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