Author
Sylvie Fraitag
Other affiliations: Sorbonne, Paris Descartes University, University of Paris ...read more
Bio: Sylvie Fraitag is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Langerhans cell histiocytosis & Immunodeficiency. The author has an hindex of 47, co-authored 329 publications receiving 9006 citations. Previous affiliations of Sylvie Fraitag include Sorbonne & Paris Descartes University.
Papers published on a yearly basis
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Université Paris-Saclay1, University of Toronto2, Karolinska University Hospital3, Pierre-and-Marie-Curie University4, Cincinnati Children's Hospital Medical Center5, Memorial Sloan Kettering Cancer Center6, Necker-Enfants Malades Hospital7, Paris Descartes University8, University of Texas MD Anderson Cancer Center9, Icahn School of Medicine at Mount Sinai10, University of Pittsburgh11, Harvard University12, Brigham and Women's Hospital13, Mayo Clinic14
TL;DR: This revised classification system consists of 5 groups of diseases: (1) Langerhans-related, (2) cutaneous and mucocutaneous, and (3) malignant histiocytoses as well as (4) Rosai-Dorfman disease and (5) hemophagocytic lymphohistiocyts and macrophage activation syndrome.
848 citations
TL;DR: Aberrant interleukin-36Ra structure and function lead to unregulated secretion of inflammatory cytokines and generalized pustular psoriasis.
Abstract: Background Generalized pustular psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type psoriasis. Methods We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive generalized pustular psoriasis. We assessed the effect of mutations on protein expression and conformation, stability, and function. Results We identified significant linkage to an interval of 1.2 megabases on chromosome 2q13-q14.1 and a homozygous missense mutation in IL36RN, encoding an interleukin-36–receptor antagonist (interleukin-36Ra), an antiinflammatory cytokine. This mutation predicts the substitution of a proline residue for leucine at amino acid position 27 (L27P). Homology-based structural modeling of human interleukin-36Ra suggests that the proli...
787 citations
TL;DR: The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases, and treatment with vemurafenib should be investigated in patients with malignant BRAf(V 600E) histiocytosis.
529 citations
TL;DR: Deep dermatophytosis appears to be an important clinical manifestation of CARD9 deficiency, and the familial segregation of these alleles was consistent with autosomal recessive inheritance and complete clinical penetrance.
Abstract: Background Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent dissemination to the lymph nodes and, occasionally, the central nervous system. The condition is different from common superficial dermatophyte infection and has been reported in patients with no known immunodeficiency. Patients are mostly from North African, consanguineous, multiplex families, which strongly suggests a mendelian genetic cause. Methods We studied the clinical features of deep dermatophytosis in 17 patients with no known immunodeficiency from eight unrelated Tunisian, Algerian, and Moroccan families. Because CARD9 (caspase recruitment domain–containing protein 9) deficiency has been reported in an Iranian family with invasive fungal infections, we also sequenced CARD9 in the patients. Results Four patients died, at 28, 29, 37, and 39 years of age, with clinically active deep dermatophyto...
296 citations
TL;DR: Out of 45 patients with T-MF, 6 presented an histologic transformation before clinical progression, suggesting that an early histopathological diagnosis may be performed by histological follow-up, and the prognostic value of such early Histiocytic-rich MF must be confirmed by prospective studies.
273 citations
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Book•
29 Sep 2017
TL;DR: Thank you very much for reading who classification of tumours of haematopoietic and lymphoid tissues, and maybe you have knowledge that, people have look hundreds of times for their chosen readings like this, but end up in malicious downloads.
Abstract: WHO CLASSIFICATION OF TUMOURS OF HAEMATOPOIETIC AND LYMPHOID TISSUES , WHO CLASSIFICATION OF TUMOURS OF HAEMATOPOIETIC AND LYMPHOID TISSUES , کتابخانه مرکزی دانشگاه علوم پزشکی تهران
13,835 citations
01 Jan 2002
TL;DR: This list includes tumours of undefined neoplastic nature, which are of uncertain differentiation Bone Tumours, Ewing sarcoma/Primitive neuroedtodermal tumour, Myogenic, lipogenic, neural and epithelial tumours, and others.
4,185 citations
Memorial Sloan Kettering Cancer Center1, French Institute of Health and Medical Research2, Columbia University Medical Center3, Icahn School of Medicine at Mount Sinai4, Brigham and Women's Hospital5, University of Pittsburgh6, Fox Chase Cancer Center7, University of Mississippi Medical Center8, University of Colorado Boulder9, Aberdeen Royal Infirmary10, University of Tsukuba11, University of Texas MD Anderson Cancer Center12
TL;DR: The 2015 World Health Organization (WHO) Classification of Tumors of the Lung, Pleura, Thymus and Heart has just been published with numerous important changes from the 2004 WHO classification.
3,029 citations
DOI•
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05 Nov 2009
TL;DR: 结节病易误诊,据王洪武等~([1])收集国内18篇关于此第一印象中拟诊 结核5例,为此应引起临床对本 病诊
Abstract: 结节病易误诊,据王洪武等~([1])收集国内18篇关于此病误诊的文献,误诊率高达63.2%,当然有误诊就会有误治,如孙永昌等~([2])报道26例结节病在影像学检查诊断的第一印象中拟诊结核5例,其中就有2例完成规范的抗结核治疗,为此应引起临床对本病诊治的重视。
1,821 citations