Journal ArticleDOI
X-linked agammaglobulinemia: report on a United States registry of 201 patients.
Jerry A. Winkelstein,Mary C. Marino,Howard M. Lederman,Stacie M. Jones,Kathleen E. Sullivan,A. Wesley Burks,Mary Ellen Conley,Charlotte Cunningham-Rundles,Hans D. Ochs +8 more
TLDR
A national registry of United States residents with XLA was established in 1999 to provide an updated clinical view of the disorder in a large cohort of patients and found that patients with a positive family history at the time of their birth were diagnosed before clinical symptoms developed.About:
This article is published in Medicine.The article was published on 2006-07-01. It has received 590 citations till now. The article focuses on the topics: Family history & Transplantation.read more
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The Principles of Engineering Immune Cells to Treat Cancer
Wendell A. Lim,Carl H. June +1 more
TL;DR: This work discusses how synthetic biology approaches for cellular engineering is providing a broadly expanded set of tools for programming immune cells and how these tools could be used to design the next generation of smart T cell precision therapeutics.
Iconographies supplémentaires de l'article : Practice parameter for the diagnosis and management of primary immunodeficiency
Francisco A. Bonilla,David A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Joyce T. Hsu,Michael D. Keller,Lisa Kobrynski,Hirsh D. Komarow,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,Ricardo U. Sorensen,James W. Verbsky,David I. Bernstein,Joann Blessing-Moore,David Lang,Richard A. Nicklas,John Oppenheimer,Jay M Portnoy,Christopher Randolph,Diane E. Schuller,Sheldon L. Spector,S. Tilles,Dana V. Wallace,D.A. Khan +27 more
TL;DR: This document incorporated the efforts of many participants, and no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters.
Journal ArticleDOI
Practice parameter for the diagnosis and management of primary immunodeficiency.
Francisco A. Bonilla,I. Leonard Bernstein,David A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Lisa Kobrynski,Arnold I. Levinson,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,William T. Shearer,Ricardo U. Sorensen +14 more
TL;DR: The present work presents a meta-analysis of the immune checkpoints in the immune system that highlights the importance of knowing these checkpoints before and during the course of treatment with chemotherapy.
Journal ArticleDOI
Bruton's tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain.
Abdalla J. Mohamed,Liang Yu,Carl-Magnus Bäckesjö,Leonardo Vargas,Rani Faryal,Rani Faryal,Alar Aints,Alar Aints,Birger Christensson,Anna Berglöf,Mauno Vihinen,Beston F. Nore,C. I. Edvard Smith +12 more
TL;DR: Novel mutations in the pleckstrin homology domain investigated for their transforming capacity are described and it is shown that the mutant D43R behaves similar to E41K, already known to possess such activity.
Journal ArticleDOI
Adenoviruses in Immunocompromised Hosts
TL;DR: Sensitive diagnostic tests for adenovirus can contribute to the early diagnosis and successful treatment of life-threatening adenvirus infections, especially in complex immunocompromised patients.
References
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Journal ArticleDOI
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
David Vetrie,Vorechovský I,Paschalis Sideras,Paschalis Sideras,Jill Holland,Angela F. Davies,Frances Flinter,Lennart Hammarström,Christine Kinnon,Roland J. Levinsky,Martin Bobrow +10 more
TL;DR: A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder, the first evidence that mutations in a src-related gene are involved in human genetic disease.
Journal ArticleDOI
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
Satoshi Tsukada,Douglas C. Saffran,David J. Rawlings,Ornella Parolini,Ornella Parolini,R. Cutler Allen,Ivana Klisak,Robert S. Sparkes,Hiromi Kubagawa,Hiromi Kubagawa,Hiromi Kubagawa,T. K. Mohandas,Shirley G. Quan,John W. Belmont,Max D. Cooper,Max D. Cooper,Max D. Cooper,Mary Ellen Conley,Mary Ellen Conley,Owen N. Witte +19 more
TL;DR: A novel cytoplasmic tyrosine kinase, termed BPK (B cell progenitor kinase), which is expressed in all stages of the B lineage and in myeloid cells is described, likely the XLA gene and functions in pathways critical to B cell expansion.
Journal ArticleDOI
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies).
TL;DR: The clinical and laboratory findings in several of the X-linked immunodeficiencies are sufficiently distinctive that these findings, when coupled with a family history of disease that is specific to X- linked inheritance, can be used to make a definitive diagnosis.
Journal ArticleDOI
Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications
R.A. Hermaszewski,A.D.B. Webster +1 more
TL;DR: There is particular concern that infection with mycoplasmas and enteroviruses can be resistant to treatment and the high incidence of lymphoma and gastric carcinoma in patients with common variable immunodeficiency is high-lighted.
Journal ArticleDOI
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.
Jerry A. Winkelstein,Mary C. Marino,Hans D. Ochs,Ramsey Fuleihan,Paul Scholl,Raif S. Geha,E. Richard Stiehm,Mary Ellen Conley +7 more
TL;DR: The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function.
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