Zobrazeno 1 - 10
of 10
pro vyhledávání: '"David H. McDermott"'
Publikováno v:
J Clin Immunol
WHIM syndrome is a rare combined primary immunodeficiency disease named by acronym for the diagnostic tetrad of warts, hypogammaglobulinemia, infections, and myelokathexis. Myelokathexis is a unique form of non-cyclic severe congenital neutropenia ca
Autor:
Qian Liu, Alexander Yang, Kimberly Beacht, David H. McDermott, Philip M. Murphy, Erin Yim, Ji-Liang Gao, Albert Owusu-Ansah, Andrea Paun, Marie Siwicki
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome immunodeficiency is caused by autosomal dominant gain-of-function mutations in chemokine receptor CXCR4. Patient WHIM-09 was spontaneously cured by chromothriptic deletion of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::915ecfef259b10bb90f1da53edcb04b0
https://europepmc.org/articles/PMC6975255/
https://europepmc.org/articles/PMC6975255/
Autor:
Barbara Rehermann, Susan M. Resnick, Anca M. Segall, Ben Bolduc, Blake A Ta'ala, Jason M. Brenchley, Patricia A. Pesavento, Arvind Varsani, Diana V. Pastrana, Nicole L. Welch, Philip M. Murphy, Olga Pletnikova, David H. McDermott, Yuk Ying S. Pang, Juan C. Troncoso, Jessica L. Whited, Brittany Stewart, John Doorbar, Bess M. Miller, Stephan P. Rosshart, Alberto Peretti, Gabriel J. Starrett, Matthew B. Sullivan, Siddharth R. Krishnamurthy, Michael J. Tisza, Christopher B. Buck
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
Although millions of distinct virus species likely exist, only approximately 9000 are catalogued in GenBank's RefSeq database. We selectively enriched for the genomes of circular DNA viruses in over 70 animal samples, ranging from nematodes to human
Autor:
Ji-Liang Gao, Qian Liu, Daniel Velez, Alexander Yang, Elena J. Cho, David H. McDermott, Philip M. Murphy, Zhanzhuo Li
Publikováno v:
Journal of Clinical Immunology. 38:77-87
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. Originally diagnosed incorrectly with autoimmune neutropenia, the patient underwent splenectomy at a
Autor:
Ji-Liang Gao, Alexander Yang, David H. McDermott, Ari B. Azani, Lauren E. Heusinkveld, Erin Yim, Qian Liu, Philip M. Murphy
Publikováno v:
Expert Opinion on Orphan Drugs. 5:813-825
WHIM syndrome is a rare combined primary immunodeficiency disorder caused by autosomal dominant gain-of-function mutations in the chemokine receptor CXCR4. It is the only Mendelian condition known to be caused by mutation of a chemokine or chemokine
Autor:
Qian Liu, Lizbeeth Lopez, Sandra Anaya-O'Brien, Jean Ulrick, Catherina Pan, Harry L. Malech, John S. Corns, Donald T. Ellenburg, Philip M. Murphy, Patricia Littel, Daniel Velez, David H. McDermott, Ji-Liang Gao
Publikováno v:
Journal of Clinical Immunology. 36:397-405
WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed
Autor:
Stephen F. Porcella, Stacy M. Ricklefs, Stephen R. Spellman, Sarah L. Anzick, Susan E. Conway, Mike Haagenson, Peter T. Jindra, Tao Wang, Peter Kraft, Edgar L. Milford, Reza Abdi, David H. McDermott
Publikováno v:
Biology of Blood and Marrow Transplantation. 22(1):27-36
Despite stringent procedures to secure the best HLA matching between donors and recipients, life-threatening complications continue to occur after hematopoietic stem cell transplantation (HSCT). Studying single nucleotide polymorphism (SNP) in genes
Autor:
David H. McDermott, Philip M. Murphy
Publikováno v:
Immunological reviews. 287(1)
WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from heterozygous gain-of-function mutations in the chemokine recepto
Autor:
Qian Liu, Ari B. Azani, Ji-Liang Gao, Alexander Yang, David H. McDermott, Albert Owusu-Ansah, Philip M. Murphy, Erin Yim, Marie Siwicki
Publikováno v:
The Journal of clinical investigation. 128(8)
For gene therapy of gain-of-function autosomal dominant diseases, either correcting or deleting the disease allele is potentially curative. To test whether there may be an advantage of one approach over the other for WHIM (warts, hypogammaglobulinemi
Autor:
Wadih M. Zein, Sergio D. Rosenzweig, H. Nida Sen, Mark Parta, Henry E. Wiley, Philip M. Murphy, David H. McDermott, Martha Marquesen, Gary A. Fahle, Michael D. Keller, Lauren E. Heusinkveld
Publikováno v:
F1000Research
A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated w