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- Publications
- Influence
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
- B. Grimbacher, S. Holland, +6 authors J. Puck
- Medicine
- The New England journal of medicine
- 4 March 1999
BACKGROUND
The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum.… Expand
STAT3 mutations in the hyper-IgE syndrome.
- S. Holland, F. Deleo, +22 authors B. Grimbacher
- Medicine
- The New England journal of medicine
- 18 October 2007
BACKGROUND
The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by dermatitis, boils, cyst-forming pneumonias, elevated serum IgE levels,… Expand
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
- W. Al-Herz, A. Bousfiha, +15 authors M. Tang
- Medicine
- Front. Immun.
- 8 November 2011
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous… Expand
Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
- G. H. Fisher, F. J. Rosenberg, +6 authors J. Puck
- Biology, Medicine
- Cell
- 16 June 1995
Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations… Expand
Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
- W. Al-Herz, A. Bousfiha, +15 authors M. Tang
- Medicine
- Front. Immunol.
- 22 April 2014
We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous… Expand
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
- R. Buckley, R. Schiff, +5 authors J. Puck
- Biology, Medicine
- The Journal of pediatrics
- 1 March 1997
OBJECTIVE
To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular… Expand
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
- K. Engelhardt, S. McGhee, +35 authors T. Chatila
- Biology, Medicine
- The Journal of allergy and clinical immunology
- 1 December 2009
BACKGROUND
The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was… Expand
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
- Aziz Bousfiha, L. Jeddane, +19 authors K. Sullivan
- Medicine
- Journal of Clinical Immunology
- 11 December 2017
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification… Expand
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
- C. Picard, H. Bobby Gaspar, +17 authors K. Sullivan
- Medicine
- Journal of Clinical Immunology
- 11 December 2017
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of… Expand
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
- H. Chun, Lixin Zheng, +11 authors M. Lenardo
- Biology, Medicine
- Nature
- 26 September 2002
Apoptosis is a form of programmed cell death that is controlled by aspartate-specific cysteine proteases called caspases. In the immune system, apoptosis counters the proliferation of lymphocytes to… Expand