about
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeDeep dermatophytosis and inherited CARD9 deficiencyChronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasisInherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infectionIMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage regionInherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or bothPartial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies.Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency.Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis.Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activityChronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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description
hulumtuese
@sq
researcher
@en
wetenschapper
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հետազոտող
@hy
name
Mélanie Migaud
@ast
Mélanie Migaud
@en
Mélanie Migaud
@es
Mélanie Migaud
@nl
Mélanie Migaud
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type
label
Mélanie Migaud
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Mélanie Migaud
@en
Mélanie Migaud
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Mélanie Migaud
@nl
Mélanie Migaud
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prefLabel
Mélanie Migaud
@ast
Mélanie Migaud
@en
Mélanie Migaud
@es
Mélanie Migaud
@nl
Mélanie Migaud
@sl
P106
P21
P31
P496
0000-0003-3062-1214