Search Results - "DOBBS, A. Kerry"

Primary B cell immunodeficiencies: comparisons and contrasts by Conley, Mary Ellen, Dobbs, A Kerry, Farmer, Dana M, Kilic, Sebnem, Paris, Kenneth, Grigoriadou, Sofia, Coustan-Smith, Elaine, Howard, Vanessa, Campana, Dario

“…Sophisticated genetic tools have made possible the identification of the genes responsible for most well-described immunodeficiencies in the past 15 years…”
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PAX1 is essential for development and function of the human thymus by Yamazaki, Yasuhiro, Urrutia, Raul, Franco, Luis M, Giliani, Silvia, Zhang, Kejian, Alazami, Anas M, Dobbs, A Kerry, Masneri, Stefania, Joshi, Avni, Otaizo-Carrasquero, Francisco, Myers, Timothy G, Ganesan, Sundar, Bondioni, Maria Pia, Ho, Mai Lan, Marks, Catherine, Alajlan, Huda, Mohammed, Reem W, Zou, Fanggeng, Valencia, C Alexander, Filipovich, Alexandra H, Facchetti, Fabio, Boisson, Bertrand, Azzari, Chiara, Al-Saud, Bander K, Al-Mousa, Hamoud, Casanova, Jean Laurent, Abraham, Roshini S, Notarangelo, Luigi D

“…We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to…”
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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K by Conley, Mary Ellen, Dobbs, A Kerry, Quintana, Anita M, Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M, Perez, Elena E, Murray, Peter J

“…Whole exome sequencing was used to determine the causative gene in patients with B cell defects of unknown etiology. A homozygous premature stop codon in exon…”
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SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation by Delmonte, Ottavia M., Bergerson, Jenna R.E., Kawai, Tomoki, Kuehn, Hye Sun, McDermott, David H., Cortese, Irene, Zimmermann, Michael T., Dobbs, A. Kerry, Bosticardo, Marita, Fink, Danielle, Majumdar, Shamik, Palterer, Boaz, Pala, Francesca, Dsouza, Nikita R., Pouzolles, Marie, Taylor, Naomi, Calvo, Katherine R., Daley, Stephen R., Velez, Daniel, Agharahimi, Anahita, Myint-Hpu, Katherine, Dropulic, Lesia K., Lyons, Jonathan J., Holland, Steven M., Freeman, Alexandra F., Ghosh, Rajarshi, Similuk, Morgan B., Niemela, Julie E., Stoddard, Jennifer, Kuhns, Douglas B., Urrutia, Raul, Rosenzweig, Sergio D., Walkiewicz, Magdalena A., Murphy, Philip M., Notarangelo, Luigi D.

“…Sterile alpha motif (SAM) and Src homology-3 (SH3) domain-containing 3 (SASH3), also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor…”
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Agammaglobulinemia associated with BCR− B cells and enhanced expression of CD19 by Dobbs, A. Kerry, Bosompem, Amma, Coustan-Smith, Elaine, Tyerman, Gayle, Saulsbury, Frank T., Conley, Mary Ellen

“…Expression of a BCR is critical for B-cell development and survival. We have identified 4 patients with agammaglobulinemia and markedly reduced but detectable…”
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Cutting Edge: A Hypomorphic Mutation in Igbeta (CD79b) in a Patient with Immunodeficiency and a Leaky Defect in B Cell Development by Dobbs, A. Kerry, Yang, Tianyu, Farmer, Dana, Kager, Leo, Parolini, Ornella, Conley, Mary Ellen

“…Although null mutations in Igalpha have been identified in patients with defects in B cell development, no mutations in Igbeta have been reported. We recently…”
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Cutting Edge: A Hypomorphic Mutation in Igβ (CD79b) in a Patient with Immunodeficiency and a Leaky Defect in B Cell Development by Dobbs, A. Kerry, Yang, Tianyu, Farmer, Dana, Kager, Leo, Parolini, Ornella, Conley, Mary Ellen

“…Abstract Although null mutations in Igα have been identified in patients with defects in B cell development, no mutations in Igβ have been reported. We…”
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Agammaglobulinemia associated with BCR- B cells and enhanced expression of CD 19 by DOBBS, A. Kerry, BOSOMPEM, Amma, COUSTAN-SMITH, Elaine, TYERMAN, Gayle, SAULSBURY, Frank T, CONLEY, Mary Ellen

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