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- Publications
- Influence
An official ATS/IDSA statement: diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases.
- D. Griffith, T. Aksamit, +13 authors K. Winthrop
- Medicine
- American journal of respiratory and critical care…
- 15 February 2007
Diagnostic Criteria of Nontuberculous Mycobacterial Lung Disease Key Laboratory Features of NTM Health Careand Hygiene-associated Disease Prevention Prophylaxis and Treatment of NTM Disease… Expand
Oxidation of tetrahydrobiopterin leads to uncoupling of endothelial cell nitric oxide synthase in hypertension.
- U. Landmesser, S. Dikalov, +5 authors D. Harrison
- Chemistry, Medicine
- The Journal of clinical investigation
- 15 April 2003
Tetrahydrobiopterin is a critical cofactor for the NO synthases, and in its absence these enzymes become "uncoupled," producing reactive oxygen species (ROSs) rather than NO. In aortas of mice with… Expand
Activated STING in a vascular and pulmonary syndrome.
- Y. Liu, A. A. Jesus, +49 authors R. Goldbach-Mansky
- Medicine
- The New England journal of medicine
- 6 August 2014
BACKGROUND
The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation.
METHODS
We analyzed the DNA of an index patient with early-onset… Expand
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
Combined immunodeficiency associated with DOCK8 mutations.
- Q. Zhang, J. C. Davis, +9 authors H. Su
- Medicine
- The New England journal of medicine
- 10 December 2009
BACKGROUND
Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants… Expand
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
- Michael A. Spinner, L. Sánchez, +22 authors S. Holland
- Medicine
- Blood
- 6 February 2014
Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency;… Expand
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
- C. Lucas, H. S. Kuehn, +25 authors G. Uzel
- Biology, Medicine
- Nature Immunology
- 2014
The p110δ subunit of phosphatidylinositol-3-OH kinase (PI(3)K) is selectively expressed in leukocytes and is critical for lymphocyte biology. Here we report fourteen patients from seven families who… 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
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