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Article ; Online: Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway.

Manry, Jeremy / Vincent, Quentin B / Johnson, Christian / Chrabieh, Maya / Lorenzo, Lazaro / Theodorou, Ioannis / Ardant, Marie-Françoise / Marion, Estelle / Chauty, Annick / Marsollier, Laurent / Abel, Laurent / Alcaïs, Alexandre

Communications biology

2020 Volume 3, Issue 1, Page(s) 177

Abstract: Buruli ulcer, caused by Mycobacterium ulcerans and characterized by devastating necrotizing skin lesions, is the third mycobacterial disease worldwide. The role of host genetics in susceptibility to Buruli ulcer has long been suggested. We conduct the ... ...

Abstract	Buruli ulcer, caused by Mycobacterium ulcerans and characterized by devastating necrotizing skin lesions, is the third mycobacterial disease worldwide. The role of host genetics in susceptibility to Buruli ulcer has long been suggested. We conduct the first genome-wide association study of Buruli ulcer on a sample of 1524 well characterized patients and controls from rural Benin. Two-stage analyses identify two variants located within LncRNA genes: rs9814705 in ENSG00000240095.1 (P = 2.85 × 10
MeSH term(s)	Adolescent ; Adult ; Autophagy/genetics ; Autophagy-Related Proteins/genetics ; Benin ; Buruli Ulcer/diagnosis ; Buruli Ulcer/genetics ; Buruli Ulcer/microbiology ; Case-Control Studies ; Child ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Host-Pathogen Interactions ; Humans ; Male ; Mutation, Missense ; Mycobacterium ulcerans/pathogenicity ; Phenotype ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding/genetics ; Risk Assessment ; Risk Factors ; Young Adult
Chemical Substances	ATG16L1 protein, human ; Autophagy-Related Proteins ; RNA, Long Noncoding
Language	English
Publishing date	2020-04-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2399-3642
ISSN (online)	2399-3642
DOI	10.1038/s42003-020-0920-6
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Article: Corrigendum: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin, Karina S / Hintermeyer, Mary / Boisson, Bertrand / Chrabieh, Maya / Ghandil, Pegah / Puel, Anne / Picard, Capucine / Casanova, Jean-Laurent / Routes, John / Verbsky, James

Frontiers in pediatrics

2018 Volume 6, Page(s) 42

Abstract: This corrects the article on p. 83 in vol. 5, PMID: 28503543.]. ...

Abstract	[This corrects the article on p. 83 in vol. 5, PMID: 28503543.].
Language	English
Publishing date	2018-03-02
Publishing country	Switzerland
Document type	Journal Article ; Published Erratum
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2018.00042
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Article: IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature.

Gobin, Karina / Hintermeyer, Mary / Boisson, Bertrand / Chrabieh, Maya / Ghandil, Pegah / Puel, Anne / Picard, Capucine / Casanova, Jean-Laurent / Routes, John / Verbsky, James

Frontiers in pediatrics

2017 Volume 5, Page(s) 83

Abstract: Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the ... ...

Abstract	Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors. We highlight the complexities in diagnosis of these disorders and review genetic defects of the NF-κB pathway.
Language	English
Publishing date	2017-04-28
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2017.00083
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Article ; Online: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano, Takaki / Khourieh, Joëlle / Zhang, Peng / Rapaport, Franck / Spaan, András N / Li, Juan / Lei, Wei-Te / Pelham, Simon J / Hum, David / Chrabieh, Maya / Han, Ji Eun / Guérin, Antoine / Mackie, Joseph / Gupta, Sudhir / Saikia, Biman / Baghdadi, Jamila E I / Fadil, Ilham / Bousfiha, Aziz / Habib, Tanwir /

Marr, Nico / Ganeshanandan, Luckshman / Peake, Jane / Droney, Luke / Williams, Andrew / Celmeli, Fatih / Hatipoglu, Nevin / Ozcelik, Tayfun / Picard, Capucine / Abel, Laurent / Tangye, Stuart G / Boisson-Dupuis, Stéphanie / Zhang, Qian / Puel, Anne / Béziat, Vivien / Casanova, Jean-Laurent / Boisson, Bertrand

The Journal of experimental medicine

2021 Volume 218, Issue 8

Abstract: Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that ...

Abstract	Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame variants were DN via their encoded (1) truncated proteins, (2) neoproteins generated from a translation reinitiation codon, and (3) isoforms from alternative transcripts or a combination thereof. Moreover, 128 of the 135 in-frame variants (95%) were also DN. The patients carrying the seven non-DN STAT3 in-frame variants have not been studied for other genetic etiologies. Finally, none of the variants from the general population tested, including an out-of-frame variant, were DN. Overall, our findings show that heterozygous STAT3 variants, whether in or out of frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.
MeSH term(s)	Adolescent ; Adult ; Alleles ; Alternative Splicing/genetics ; Child ; Child, Preschool ; Codon, Nonsense/genetics ; Evolution, Molecular ; Family ; Female ; Frameshift Mutation/genetics ; Genes, Dominant ; Genetics, Population ; HEK293 Cells ; Humans ; Infant ; Infant, Newborn ; Job Syndrome/genetics ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Protein Biosynthesis ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; STAT3 Transcription Factor/genetics
Chemical Substances	Codon, Nonsense ; RNA, Messenger ; STAT3 Transcription Factor ; STAT3 protein, human
Language	English
Publishing date	2021-06-17
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.20202592
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Article ; Online: Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.

Le Goff, Carine / Rogers, Curtis / Le Goff, Wilfried / Pinto, Graziella / Bonnet, Damien / Chrabieh, Maya / Alibeu, Olivier / Nistchke, Patrick / Munnich, Arnold / Picard, Capucine / Cormier-Daire, Valérie

American journal of human genetics

2016 Volume 99, Issue 2, Page(s) 407–413

Abstract: Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and ... ...

Abstract	Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in age from 5 to 37 years. MAP3K7 encodes transforming growth factor β (TGF-β)-activated kinase 1 (TAK1), which is involved in the mitogen-activated protein kinase (MAPK)-p38 signaling pathway. MAPK-p38 signaling was markedly altered when expression of non-canonical TGF-β-driven target genes was impaired. These findings support the loss of transcriptional control of the TGF-β-MAPK-p38 pathway in fibroblasts obtained from affected individuals. Surprisingly, although TAK1 is located at the crossroad of inflammation, immunity, and cancer, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone, and heart.
MeSH term(s)	Abnormalities, Multiple ; Adolescent ; Adult ; Carpal Bones/abnormalities ; Cervical Vertebrae/abnormalities ; Child ; Child, Preschool ; Female ; Fibroblasts ; Gene Expression Regulation ; Hearing Loss, Bilateral ; Hearing Loss, Conductive/genetics ; Heterozygote ; Humans ; Interleukin-1beta/metabolism ; MAP Kinase Kinase Kinases/genetics ; MAP Kinase Signaling System ; Male ; Mitral Valve Insufficiency/genetics ; Mutation/genetics ; Osteosclerosis ; Syndrome ; Tarsal Bones/abnormalities ; Transforming Growth Factor beta/metabolism ; Young Adult ; p38 Mitogen-Activated Protein Kinases/metabolism
Chemical Substances	Interleukin-1beta ; Transforming Growth Factor beta ; p38 Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; MAP Kinase Kinase Kinases (EC 2.7.11.25) ; MAP kinase kinase kinase 7 (EC 2.7.11.25)
Language	English
Publishing date	2016-07-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2016.06.005
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Article ; Online: Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease.

Gazendam, Roel P / van de Geer, Annemarie / van Hamme, John L / Helgers, Leanne / Rohr, Jan / Chrabieh, Maya / Picard, Capucine / Roos, Dirk / van den Berg, J Merlijn / van den Berg, T K / Kuijpers, Taco W

The Journal of allergy and clinical immunology

2016 Volume 138, Issue 3, Page(s) 928–930.e4

MeSH term(s)	Bacteria/immunology ; Cell Line ; Cytokines/immunology ; Fungi/immunology ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/immunology ; Humans ; Inflammation/genetics ; Inflammation/immunology ; Monocytes/immunology ; Mutation/genetics ; NADPH Oxidases/genetics ; Neutrophils/immunology
Chemical Substances	Cytokines ; NADPH Oxidases (EC 1.6.3.-)
Language	English
Publishing date	2016-05-05
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2016.03.035
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Article ; Online: A deep intronic splice mutation of

Khourieh, Joëlle / Rao, Geetha / Habib, Tanwir / Avery, Danielle T / Lefèvre-Utile, Alain / Chandesris, Marie-Olivia / Belkadi, Aziz / Chrabieh, Maya / Alwaseem, Hanan / Grandin, Virginie / Sarrot-Reynauld, Françoise / Sénéchal, Agathe / Lortholary, Olivier / Kong, Xiao-Fei / Boisson-Dupuis, Stéphanie / Picard, Capucine / Puel, Anne / Béziat, Vivien / Zhang, Qian /

Abel, Laurent / Molina, Henrik / Marr, Nico / Tangye, Stuart G / Casanova, Jean-Laurent / Boisson, Bertrand

Proceedings of the National Academy of Sciences of the United States of America

2019 Volume 116, Issue 33, Page(s) 16463–16472

Abstract: Heterozygous in-frame mutations in coding regions of ... ...

Abstract	Heterozygous in-frame mutations in coding regions of human
MeSH term(s)	Adult ; Alleles ; B-Lymphocytes/metabolism ; B-Lymphocytes/pathology ; Child, Preschool ; DNA-Binding Proteins/genetics ; Exons/genetics ; Female ; Gene Expression Regulation/genetics ; Heterozygote ; Humans ; Job Syndrome/genetics ; Job Syndrome/pathology ; Loss of Function Mutation/genetics ; Male ; Middle Aged ; RNA Splice Sites/genetics ; STAT3 Transcription Factor/genetics ; T-Lymphocytes/metabolism ; T-Lymphocytes/pathology
Chemical Substances	DNA-Binding Proteins ; RNA Splice Sites ; STAT3 Transcription Factor
Language	English
Publishing date	2019-07-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1901409116
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Article ; Online: Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Ogishi, Masato / Yang, Rui / Rodriguez, Rémy / Golec, Dominic P / Martin, Emmanuel / Philippot, Quentin / Bohlen, Jonathan / Pelham, Simon J / Arias, Andrés Augusto / Khan, Taushif / Ata, Manar / Al Ali, Fatima / Rozenberg, Flore / Kong, Xiao-Fei / Chrabieh, Maya / Laine, Candice / Lei, Wei-Te / Han, Ji Eun / Seeleuthner, Yoann /

Kaul, Zenia / Jouanguy, Emmanuelle / Béziat, Vivien / Youssefian, Leila / Vahidnezhad, Hassan / Rao, V Koneti / Neven, Bénédicte / Fieschi, Claire / Mansouri, Davood / Shahrooei, Mohammad / Pekcan, Sevgi / Alkan, Gulsum / Emiroğlu, Melike / Tokgöz, Hüseyin / Uitto, Jouni / Hauck, Fabian / Bustamante, Jacinta / Abel, Laurent / Keles, Sevgi / Parvaneh, Nima / Marr, Nico / Schwartzberg, Pamela L / Latour, Sylvain / Casanova, Jean-Laurent / Boisson-Dupuis, Stéphanie

The Journal of experimental medicine

2022 Volume 220, Issue 1

Abstract: Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that ... ...

Abstract	Inborn errors of IFN-γ immunity can underlie tuberculosis (TB). We report three patients from two kindreds without EBV viremia or disease but with severe TB and inherited complete ITK deficiency, a condition associated with severe EBV disease that renders immunological studies challenging. They have CD4+ αβ T lymphocytopenia with a concomitant expansion of CD4-CD8- double-negative (DN) αβ and Vδ2- γδ T lymphocytes, both displaying a unique CD38+CD45RA+T-bet+EOMES- phenotype. Itk-deficient mice recapitulated an expansion of the γδ T and DN αβ T lymphocyte populations in the thymus and spleen, respectively. Moreover, the patients' T lymphocytes secrete small amounts of IFN-γ in response to TCR crosslinking, mitogens, or forced synapse formation with autologous B lymphocytes. Finally, the patients' total lymphocytes secrete small amounts of IFN-γ, and CD4+, CD8+, DN αβ T, Vδ2+ γδ T, and MAIT cells display impaired IFN-γ production in response to BCG. Inherited ITK deficiency undermines the development and function of various IFN-γ-producing T cell subsets, thereby underlying TB.
MeSH term(s)	Animals ; Humans ; Mice ; Interferon-gamma ; Receptors, Antigen, T-Cell, alpha-beta/genetics ; Receptors, Antigen, T-Cell, gamma-delta/genetics ; T-Lymphocyte Subsets ; Thymus Gland ; Tuberculosis
Chemical Substances	Interferon-gamma (82115-62-6) ; Receptors, Antigen, T-Cell, alpha-beta ; Receptors, Antigen, T-Cell, gamma-delta ; emt protein-tyrosine kinase (EC 2.7.10.2)
Language	English
Publishing date	2022-11-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural ; Research Support, N.I.H., Extramural
ZDB-ID	218343-2
ISSN	1540-9538 ; 0022-1007
ISSN (online)	1540-9538
ISSN	0022-1007
DOI	10.1084/jem.20220484
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Article ; Online: Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts.

Della Mina, Erika / Borghesi, Alessandro / Zhou, Hao / Bougarn, Salim / Boughorbel, Sabri / Israel, Laura / Meloni, Ilaria / Chrabieh, Maya / Ling, Yun / Itan, Yuval / Renieri, Alessandra / Mazzucchelli, Iolanda / Basso, Sabrina / Pavone, Piero / Falsaperla, Raffaele / Ciccone, Roberto / Cerbo, Rosa Maria / Stronati, Mauro / Picard, Capucine /

Zuffardi, Orsetta / Abel, Laurent / Chaussabel, Damien / Marr, Nico / Li, Xiaoxia / Casanova, Jean-Laurent / Puel, Anne

Proceedings of the National Academy of Sciences of the United States of America

2017 Volume 114, Issue 4, Page(s) E514–E523

Abstract: Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88 adapter and the interleukin-1 receptor-associated kinase (IRAK) complex. This complex contains four ... ...

Abstract	Most members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) families transduce signals via a canonical pathway involving the MyD88 adapter and the interleukin-1 receptor-associated kinase (IRAK) complex. This complex contains four molecules, including at least two (IRAK-1 and IRAK-4) active kinases. In mice and humans, deficiencies of IRAK-4 or MyD88 abolish most TLR (except for TLR3 and some TLR4) and IL-1R signaling in both leukocytes and fibroblasts. TLR and IL-1R responses are weak but not abolished in mice lacking IRAK-1, whereas the role of IRAK-1 in humans remains unclear. We describe here a boy with X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 Like many boys with MECP2 null mutations, this child died very early, at the age of 7 mo. Unlike most IRAK-4- or MyD88-deficient patients, he did not suffer from invasive bacterial diseases during his short life. The IRAK-1 protein was completely absent from the patient's fibroblasts, which responded very poorly to all TLR2/6 (PAM
Language	English
Publishing date	2017-01-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.1620139114
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Article ; Online: Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Spaan, András N / Neehus, Anna-Lena / Laplantine, Emmanuel / Staels, Frederik / Ogishi, Masato / Seeleuthner, Yoann / Rapaport, Franck / Lacey, Keenan A / Van Nieuwenhove, Erika / Chrabieh, Maya / Hum, David / Migaud, Mélanie / Izmiryan, Araksya / Lorenzo, Lazaro / Kochetkov, Tatiana / Heesterbeek, Dani A C / Bardoel, Bart W / DuMont, Ashley L / Dobbs, Kerry /

Chardonnet, Solenne / Heissel, Søren / Baslan, Timour / Zhang, Peng / Yang, Rui / Bogunovic, Dusan / Wunderink, Herman F / Haas, Pieter-Jan A / Molina, Henrik / Van Buggenhout, Griet / Lyonnet, Stanislas / Notarangelo, Luigi D / Seppänen, Mikko R J / Weil, Robert / Seminario, Gisela / Gomez-Tello, Héctor / Wouters, Carine / Mesdaghi, Mehrnaz / Shahrooei, Mohammad / Bossuyt, Xavier / Sag, Erdal / Topaloglu, Rezan / Ozen, Seza / Leavis, Helen L / van Eijk, Maarten M J / Bezrodnik, Liliana / Blancas Galicia, Lizbeth / Hovnanian, Alain / Nassif, Aude / Bader-Meunier, Brigitte / Neven, Bénédicte / Meyts, Isabelle / Schrijvers, Rik / Puel, Anne / Bustamante, Jacinta / Aksentijevich, Ivona / Kastner, Daniel L / Torres, Victor J / Humblet-Baron, Stéphanie / Liston, Adrian / Abel, Laurent / Boisson, Bertrand / Casanova, Jean-Laurent

Science (New York, N.Y.)

2022 Volume 376, Issue 6599, Page(s) eabm6380

Abstract: The molecular basis of interindividual clinical variability upon infection ... ...

Abstract	The molecular basis of interindividual clinical variability upon infection with
MeSH term(s)	Bacterial Toxins/immunology ; Cri-du-Chat Syndrome/genetics ; Cri-du-Chat Syndrome/immunology ; Endopeptidases/genetics ; Haploinsufficiency/genetics ; Haploinsufficiency/immunology ; Hemolysin Proteins/immunology ; Host-Pathogen Interactions/genetics ; Host-Pathogen Interactions/immunology ; Humans ; Immunity, Cellular/genetics ; Necrosis ; Staphylococcal Infections/genetics ; Staphylococcal Infections/immunology ; Staphylococcal Infections/pathology ; Staphylococcus aureus
Chemical Substances	Bacterial Toxins ; Hemolysin Proteins ; staphylococcal alpha-toxin ; Endopeptidases (EC 3.4.-) ; OTULIN protein, human (EC 3.4.-)
Language	English
Publishing date	2022-06-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	128410-1
ISSN	1095-9203 ; 0036-8075
ISSN (online)	1095-9203
ISSN	0036-8075
DOI	10.1126/science.abm6380
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