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- Jerry A. Winkelstein, Mary C Marino, +11 authors Howard B. Dickler
- Medicine
- 2000
A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this uncommon primary immunodeficiency disease and… (More)
- Bodo Grimbacher, Steven M Holland, +6 authors Jennifer M Puck
- The New England journal of medicine
- 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.… (More)
- Steven M Holland, Frank R Deleo, +22 authors Bodo Grimbacher
- The New England journal of medicine
- 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,… (More)
- Brahm H. Segal, Thomas L. Leto, John I. Gallin, Harry L Malech, Steve M Holland
- Medicine
- 2000
The reduced nicotinamide dinucleotide phosphate (NADPH) oxidase complex allows phagocytes to rapidly convert O2 to superoxide anion which then generates other antimicrobial reactive oxygen… (More)
- Bodo Grimbacher, Alejandro A. Schäffer, +16 authors Jennifer M Puck
- American journal of human genetics
- 1999
The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem… (More)
- Douglas B. Kuhns, W. Gregory Alvord, +11 authors John I. Gallin
- The New England journal of medicine
- 2010
BACKGROUND
Failure to generate phagocyte-derived superoxide and related reactive oxygen intermediates (ROIs) is the major defect in chronic granulomatous disease, causing recurrent infections and… (More)
- Julie A. Lekstrom-Himes, John I. Gallin
- The New England journal of medicine
- 2000
- Suk See De Ravin, Nora Naumann, +8 authors Harry L Malech
- The Journal of allergy and clinical immunology
- 2008
Chronic granulomatous disease (CGD) is characterized by recurrent infections and granuloma formation. In addition, we have observed a number of diverse autoimmune conditions in our CGD population,… (More)
- Cheng-Lung Ku, Horst von Bernuth, +34 authors Jean Casanova
- The Journal of experimental medicine
- 2007
Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently discovered primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR)… (More)
Chronic granulomatous disease (CGD) is a rare inherited disorder of the NADPH oxidase complex in which phagocytes are defective in generating reactive oxidants. As a result, patients with CGD suffer… (More)