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Scientific Reports
|
November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
Beate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.
Blood
|
May 31, 2011
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
Marjorie Hubeau, Flora Ngadjeua, Anne Puel, et al.
Human Molecular Genetics
|
November 3, 2009
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
Xiao-Fei Kong, Guillaume Vogt, Ariane Chapgier, et al.
Journal of Medical Genetics
|
May 28, 2013
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, et al.
Journal of Human Immunity
|
January 29, 2026
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
M Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, et al.
Research Square
|
August 14, 2023
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
Nature Immunology
|
October 27, 2014
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4
Laia Alsina, Elisabeth Israelsson, Matthew C Altman, et al.
European Journal of Immunology
|
April 14, 2025
Rapid Detection of Anti-IFN-α2 Autoantibodies Using a New Automated VIDAS Assay Prototype
Sylvie Pons, Laurence Generenaz, Adrian Gervais, et al.
Journal of Clinical Immunology
|
December 22, 2023
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
The Journal of Experimental Medicine
|
April 29, 2015
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
Yun Ling, Sophie Cypowyj, Caner Aytekin, et al.
Page
of 30
Search research articles
Search
Showing results (141-150 of 296) with videos related to
Sort By:
Page
of 30
Scientific Reports
|
November 15, 2018
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
Beate Hagl, Benedikt D Spielberger, Silvia Thoene, et al.
Blood
|
May 31, 2011
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein
Marjorie Hubeau, Flora Ngadjeua, Anne Puel, et al.
Human Molecular Genetics
|
November 3, 2009
A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
Xiao-Fei Kong, Guillaume Vogt, Ariane Chapgier, et al.
Journal of Medical Genetics
|
May 28, 2013
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
Beáta Soltész, Beáta Tóth, Nadejda Shabashova, et al.
Journal of Human Immunity
|
January 29, 2026
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
M Cecilia Poli, Ivona Aksentijevich, Ahmed Aziz Bousfiha, et al.
Research Square
|
August 14, 2023
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
Nature Immunology
|
October 27, 2014
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4
Laia Alsina, Elisabeth Israelsson, Matthew C Altman, et al.
European Journal of Immunology
|
April 14, 2025
Rapid Detection of Anti-IFN-α2 Autoantibodies Using a New Automated VIDAS Assay Prototype
Sylvie Pons, Laurence Generenaz, Adrian Gervais, et al.
Journal of Clinical Immunology
|
December 22, 2023
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC
Kosuke Noma, Miyuki Tsumura, Tina Nguyen, et al.
The Journal of Experimental Medicine
|
April 29, 2015
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
Yun Ling, Sophie Cypowyj, Caner Aytekin, et al.
Page
of 30