Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
- E. Glocker, D. Kotlarz, C. Klein
- Medicine, BiologyNew England Journal of Medicine
- 19 November 2009
Mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine, and resulted in disease remission in one patient.
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
- B. Grimbacher, S. Holland, J. Puck
- MedicineNew England Journal of Medicine
- 4 March 1999
The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system that is inherited as a single-locus autosomal dominant trait with variable expressivity.
STAT3 mutations in the hyper-IgE syndrome.
- S. Holland, F. DeLeo, B. Grimbacher
- Medicine, BiologyNew England Journal of Medicine
- 18 October 2007
Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features.
B-cell biology and development.
- Kathrin Pieper, B. Grimbacher, H. Eibel
- Biology, MedicineJournal of Allergy and Clinical Immunology
- 1 April 2013
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
- E. Glocker, A. Hennigs, B. Grimbacher
- Medicine, BiologyNew England Journal of Medicine
- 29 October 2009
Functional studies based on genetic reconstitution of myeloid cells from Card9(-/-) mice showed that the Q295X mutation impairs innate signaling from the antifungal pattern-recognition receptor dectin-1.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
- J. Toubiana, S. Okada, A. Puel
- Medicine, BiologyBlood
- 23 June 2016
Invasive infections, cerebral aneurysms, and cancers were the strongest predictors of poor outcome, and Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
- B. Gathmann, N. Mahlaoui, B. Grimbacher
- Medicine, BiologyJournal of Allergy and Clinical Immunology
- 1 July 2014
Autosomal-dominant immune dysregulation syndrome in humans with CTLA4 mutations
- D. Schubert, C. Bode, B. Grimbacher
- Biology, MedicineNature Network Boston
- 20 October 2014
Taking together, mutations in CTLA4 resulting inCTLA-4 haploinsufficiency or impaired ligand binding result in disrupted T and B cell homeostasis and a complex immune dysregulation syndrome.
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, T. Chatila
- Medicine, BiologyJournal of Allergy and Clinical Immunology
- 1 December 2009
An antibody-deficiency syndrome due to mutations in the CD19 gene.
- M. V. van Zelm, I. Reisli, J. Franco
- Medicine, BiologyNew England Journal of Medicine
- 4 May 2006
Mutation of the CD19 gene causes a type of hypogammaglobulinemia in which the response of mature B cells to antigenic stimulation is defective, and in all four patients, the antibody response to rabies vaccination was poor.
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