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Prédisposition mendélienne aux infections mycobactériennes et défaut de l'explosion oxydative des macrophages = Mendelian susceptibility to mycobacterial infections and defect in macrophages respiratory burstBUSTAMANTE, Jacinta.MS. Médecine sciences. 2011, Vol 27, Num 6-7, pp 579-581, issn 0767-0974, 3 p.Article

Rhinoscleroma : A French National Retrospective Study of Epidemiological and Clinical FeaturesDE PONTUAL, Loïc; OVETCHKINE, Philippe; HUERRE, Michel et al.Clinical infectious diseases. 2008, Vol 47, Num 11, pp 1396-1402, issn 1058-4838, 7 p.Article

From Infectious Diseases to Primary ImmunodeficienciesBUSTAMANTE, Jacinta; ZHANG, Shen-Ying; VON BERNUTH, Horst et al.Immunology and allergy clinics of North America. 2008, Vol 28, Num 2, issn 0889-8561, vii, 235-258 [25 p.]Article

BCG-osis and tuberculosis in a child with chronic granulomatous diseaseBUSTAMANTE, Jacinta; AKSU, Guzide; CASANOVA, Jean-Laurent et al.Journal of allergy and clinical immunology. 2007, Vol 120, Num 1, pp 32-38, issn 0091-6749, 7 p.Article

Pyogenic bacterial infections in humans with IRAK-4 deficiencyPICARD, Capucine; PUEL, Anne; ELBIM, Carole et al.Science (Washington, D.C.). 2003, Vol 299, Num 5615, pp 2076-2079, issn 0036-8075, 4 p.Article

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in MoroccoSABRI, Ayoub; GRANT, Audrey V; BENKIRANE, Majid et al.The Journal of infectious diseases. 2014, Vol 210, Num 4, pp 611-618, issn 0022-1899, 8 p.Article

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codonKONG, Xiao-Fei; VOGT, Guillaume; GONNORD, Pauline et al.Human molecular genetics (Print). 2010, Vol 19, Num 3, pp 434-444, issn 0964-6906, 11 p.Article

A novel form of human STAT1 deficiency impairing early but not late responses to interferonsKONG, Xiao-Fei; CIANCANELLI, Michael; KREINS, Alexandra et al.Blood. 2010, Vol 116, Num 26, pp 5895-5906, issn 0006-4971, 12 p.Article

Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytesLUENGO-BLANCO, Marcos; PRANDO, Carolina; BUSTAMANTE, Jacinta et al.Blood. 2008, Vol 112, Num 4, pp 1453-1460, issn 0006-4971, 8 p.Article

Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infectionMANSOURI, Davood; ADIMI, Parisa; VOGT, Guillaume et al.European journal of pediatrics. 2005, Vol 164, Num 12, pp 753-757, issn 0340-6199, 5 p.Article

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 DeficiencyOUEDERNI, Monia; SANAL, Ozden; COLINO, Elena et al.Clinical infectious diseases. 2014, Vol 58, Num 2, pp 204-213, issn 1058-4838, 10 p.Article

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial diseaseGRANT, Audrey V; BOISSON-DUPUIS, Stephanie; CAMCIOGLU, Yildiz et al.Journal of medical genetics. 2011, Vol 48, Num 8, pp 567-571, issn 0022-2593, 5 p.Article

Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiencyTOYODA, Hidemi; IDO, Masaru; BOISSON-DUPUIS, Stéphanie et al.Journal of medical genetics. 2010, Vol 47, Num 9, pp 631-634, issn 0022-2593, 4 p.Article

Inherited disorders of human Toll-like receptor signaling: immunological implicationsKU, Cheng-Lung; YANG, Kun; CASANOVA, Jean-Laurent et al.Immunological reviews. 2005, Vol 203, pp 10-20, issn 0105-2896, 11 p.Article

Septicemia without sepsis : Inherited disorders of nuclear factor-κB-mediated inflammationVON BERNUTH, Horst; PUEL, Anne; KU, Cheng-Lung et al.Clinical infectious diseases. 2005, Vol 41, pp S436-S430, issn 1058-4838, SUP7Conference Paper

Functional STAT3 deficiency compromises the generation of human T follicular helper cellsMA, Cindy S; AVERY, Danielle T; MAGDORF, Klaus et al.Blood. 2012, Vol 119, Num 17, pp 3997-4008, issn 0006-4971, 12 p.Article

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 ImmunityPUEL, Anne; CYPOWYJ, Sophie; GUMBLETON, Matthew et al.Science (Washington, D.C.). 2011, Vol 332, Num 6025, pp 65-68, issn 0036-8075, 4 p.Article

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO proteinHUBEAU, Marjorie; NGADJEUA, Flora; BOISSON-DUPUIS, Stéphanie et al.Blood. 2011, Vol 118, Num 4, pp 926-935, issn 0006-4971, 10 p.Article

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translationPUEL, Anne; REICHENBACH, Janine; HORNEFF, Gerd et al.American journal of human genetics. 2006, Vol 78, Num 4, pp 691-701, issn 0002-9297, 11 p.Article

A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptorsFIESCHI, Claire; BOSTICARDO, Marita; DE BEAUCOUDREY, Ludovic et al.Blood. 2004, Vol 104, Num 7, pp 2095-2101, issn 0006-4971, 7 p.Article

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 DeficiencyBOGUNOVIC, Dusan; BYUN, Minji; MANSOURI, Nahal et al.Science (Washington, D.C.). 2012, Vol 337, Num 6102, pp 1684-1688, issn 0036-8075, 5 p.Article

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 DeficiencyPRANDO, Carolina; BOISSON-DUPUIS, Stéphanie; QIUPING ZHANG et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 622-629, issn 1552-4825, 8 p.Article

From idiopathic infectious diseases to novel primary immunodeficienciesCASANOVA, Jean-Laurent; FIESCHI, Claire; BUSTAMANTE, Jacinta et al.Journal of allergy and clinical immunology. 2005, Vol 116, Num 2, pp 426-430, issn 0091-6749, 5 p.Article

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsVOGT, Guillaume; CHAPGIER, Ariane; DE BEAUCOUDREY, Ludovic et al.Nature genetics. 2005, Vol 37, Num 7, pp 692-700, issn 1061-4036, 9 p.Article

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyQUARTIER, Pierre; BUSTAMANTE, Jacinta; HORNEFF, Gerd et al.Clinical immunology (Orlando, Fla. Print). 2004, Vol 110, Num 1, pp 22-29, issn 1521-6616, 8 p.Article

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