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C. Deswarte · SciRah

Researcher profile · Semantic Scholar

C. Deswarte

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C. Deswarte — researcher profile on SciRah

h-index: 31
Works: 85
Citations: 3,465

Most-cited papers

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
S. Okada, J. Markle, E. Deenick, F. Mele +47 more
2015Science398 citations Open access
Semantic Scholar
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
A. Kreins, Michael J. Ciancanelli, S. Okada, Xiao-Fei Kong +50 more
2015Journal of Experimental Medicine323 citations Open access
Semantic Scholar
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant
S. Boisson-Dupuis, Noé Ramírez-Alejo, Zhi Li, E. Patin +63 more
2018Science immunology188 citations Open access
Semantic Scholar
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
D. Bluteau, A. Balduini, Nathalie Balayn, M. Currao +10 more
2014Journal of Clinical Investigation176 citations Open access
Semantic Scholar
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
R. Martinez-Barricarte, J. Markle, Cindy S. Ma, E. Deenick +49 more
2018Science immunology173 citations Open access
Semantic Scholar
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
F. Conti, S. Lugo Reyes, Lizbeth Blancas Galicia, Jian-Xin He +62 more
2016Journal of Allergy and Clinical Immunology123 citations Open access
Semantic Scholar
MAIZEWALL. Database and Developmental Gene Expression Profiling of Cell Wall Biosynthesis and Assembly in Maize 1[W]
S. Guillaumie, Hélène San-Clemente, C. Deswarte, Y. Martinez +5 more
2006Plant Physiology120 citations Open access
Semantic Scholar
Inherited p40phox deficiency differs from classic chronic granulomatous disease
A. van de Geer, A. Nieto-Patlán, D. Kuhns, A. Tool +55 more
2018Journal of Clinical Investigation105 citations Open access
Semantic Scholar
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
Yi Wang, Cindy S. Ma, Y. Ling, A. Bousfiha +32 more
2016Journal of Experimental Medicine102 citations Open access
Semantic Scholar
RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation
P. Ballerini, S. Struski, C. Cresson, N. Prade +16 more
2012Leukemia97 citations Open access
Semantic Scholar
Inherited human IFNγ deficiency underlies mycobacterial disease.
Gaspard Kerner, J. Rosain, A. Guérin, Ahmad Alkhabaz +26 more
2020Journal of Clinical Investigation96 citations Open access
Semantic Scholar
Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency
Xiao-Fei Kong, R. Martinez-Barricarte, J. Kennedy, F. Mele +37 more
2018Nature Immunology88 citations Open access
Semantic Scholar
MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.
I. Antony-Debré, D. Bluteau, R. Itzykson, V. Baccini +11 more
2012Blood80 citations Open access
Semantic Scholar
Expression of CD34 and CD7 on human T-cell acute lymphoblastic leukemia discriminates functionally heterogeneous cell populations
B. Gerby, E. Clappier, F. Armstrong, C. Deswarte +10 more
2011Leukemia73 citations
Semantic Scholar
Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease
L. Blancas-Galicia, E. Santos-Chávez, C. Deswarte, Quentin Mignac +49 more
2020Journal of Clinical Immunology66 citations
Semantic Scholar
A genome-wide association study of pulmonary tuberculosis in Morocco
A. Grant, A. Sabri, A. Abid, I. Rhorfi +24 more
2016Human Genetics63 citations Open access
Semantic Scholar
IRF4 haploinsufficiency in a family with Whipple’s disease
A. Guérin, Gaspard Kerner, N. Marr, J. Markle +31 more
2017bioRxiv59 citations Open access
Semantic Scholar
A partial form of inherited human USP18 deficiency underlies infection and inflammation
M. Martín-Fernández, S. Buta, T. Le Voyer, Zhi Li +24 more
2022Journal of Experimental Medicine56 citations Open access
Semantic Scholar
IFN-γ and CD25 drive distinct pathological features during hemophagocytic lymphohistiocytosis
S. Humblet-Baron, Dean Franckaert, J. Dooley, F. Ailal +6 more
2018Journal of Allergy and Clinical Immunology55 citations Open access
Semantic Scholar
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus
Clémence David, C. Arango-Franco, M. Badonyi, Julien Fouchet +28 more
2024Journal of Experimental Medicine54 citations Open access
Semantic Scholar
High prevalence of clonal hematopoiesis in the blood and bone marrow of healthy volunteers.
Hélène Guermouche, Noémie Ravalet, N. Gallay, C. Deswarte +12 more
2020Blood Advances54 citations Open access
Semantic Scholar
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
É. Pasmant, B. Gilbert-Dussardier, Arnaud Petit, B. de Laval +17 more
2014Oncogene52 citations Open access
Semantic Scholar
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice
M. Momenilandi, R. Lévy, Steicy Sobrino, Jingwei J. Li +69 more
2024Cell51 citations Open access
Semantic Scholar
A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
J. Rosain, Carmen Oleaga-Quintas, C. Deswarte, H. Verdin +35 more
2018Journal of Clinical Immunology48 citations Open access
Semantic Scholar
Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance
Carmen Oleaga-Quintas, Edgar Borges de Oliveira-Júnior, J. Rosain, Franck Rapaport +56 more
2021Journal of Clinical Immunology39 citations Open access
Semantic Scholar
Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco
A. Sabri, A. Grant, K. Cosker, S. El Azbaoui +17 more
2014Journal of Infectious Diseases38 citations Open access
Semantic Scholar
Clonal haematopoiesis is increased in early onset in systemic sclerosis.
L. Ricard, P. Hirsch, Laëtitia Largeaud, C. Deswarte +11 more
2020Rheumatology36 citations
Semantic Scholar
Interleukin-18 produced by bone marrow-derived stromal cells supports T-cell acute leukaemia progression
B. Uzan, S. Poglio, B. Gerby, Ching-Lein Wu +17 more
2014EMBO Molecular Medicine35 citations Open access
Semantic Scholar
Visceral leishmaniasis in two patients with IL‐12p40 and IL‐12Rβ1 deficiencies
N. Parvaneh, V. Barlogis, A. Alborzi, C. Deswarte +7 more
2017Pediatric Blood & Cancer34 citations
Semantic Scholar
Homeobox protein TLX3 activates miR-125b expression to promote T-cell acute lymphoblastic leukemia.
Laurent Renou, P. Boelle, C. Deswarte, S. Spicuglia +11 more
2017Blood Advances34 citations Open access
Semantic Scholar
Diagnostic and therapeutic challenges in a child with complete Interferon-γ Receptor 1 deficiency
P. Olbrich, M. Martínez-Saavedra, J. Pérez-Hurtado, C. Sanchez +8 more
2015Pediatric Blood & Cancer32 citations Open access
Semantic Scholar
Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
R. E. El Hawary, S. Meshaal, C. Deswarte, N. Galal +10 more
2016Journal of Clinical Immunology28 citations
Semantic Scholar
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
R. Lévy, D. Langlais, V. Béziat, Franck Rapaport +43 more
2021Journal of Clinical Investigation27 citations Open access
Semantic Scholar
Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature
A. Staines-Boone, C. Deswarte, Edna Venegas Montoya, L. Sánchez-Sánchez +5 more
2017Frontiers in Pediatrics26 citations Open access
Semantic Scholar
The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
M. Materna, O. Delmonte, M. Bosticardo, M. Momenilandi +94 more
2024Science24 citations Open access
Semantic Scholar
Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds
L. A. Baba, F. Ailal, N. El Hafidi, Marjorie Hubeau +19 more
2014Journal of Clinical Immunology23 citations
Semantic Scholar
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency
R. Martinez-Barricarte, O. Megged, P. Stepensky, P. Casimir +18 more
2014Journal of Clinical Immunology22 citations Open access
Semantic Scholar
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms
Jean Pegliasco, P. Hirsch, C. Marzac, F. Isnard +27 more
2021Leukemia20 citations
Semantic Scholar
Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report
N. Hatipoğlu, B. Güvenç, C. Deswarte, Kaya Koksalan +3 more
2017Pediatrics20 citations Open access
Semantic Scholar
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression
Thais Louvain de Souza, R. C. de Souza Campos Fernandes, Juliana Azevedo da Silva, Vladimir Gomes Alves +10 more
2017Frontiers in Microbiology20 citations Open access
Semantic Scholar
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
Bahar Göktürk, I. Reisli, Ümran Çalışkan, Carmen Oleaga-Quintas +7 more
2016Turkish Journal of Pediatrics19 citations Open access
Semantic Scholar
Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India
Varun K. Sharma, Gautham Pai, C. Deswarte, R. Lodha +6 more
2015Journal of Clinical Immunology19 citations
Semantic Scholar
Impaired IL-12- and IL-23-Mediated Immunity due to IL-12Rβ1 deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
Nioosha Nekooie-Marnany, C. Deswarte, Vajiheh Ostadi, Bahram Bagherpour +15 more
2018Journal of Clinical Immunology18 citations Open access
Semantic Scholar
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
J. Rosain, T. Le Voyer, Xian Liu, A. Gervais +95 more
2024Journal of Experimental Medicine17 citations Open access
Semantic Scholar
Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18
Diana Cabanillas, Lorena Regairaz, C. Deswarte, Mariel K García +4 more
2016Journal of Clinical Immunology17 citations
Semantic Scholar
Modulation of bone marrow and peripheral blood cytokine levels by age and clonal hematopoiesis in healthy individuals.
Noémie Ravalet, Hélène Guermouche, P. Hirsch, F. Picou +14 more
2023Clinical Immunology16 citations Open access
Semantic Scholar
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
S. Sarrafzadeh, M. Nourizadeh, Maryam Mahloojirad, M. Fazlollahi +7 more
2019Journal of Clinical Immunology16 citations
Semantic Scholar
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Carmen Oleaga-Quintas, C. Deswarte, M. Moncada-Vélez, A. Meti̇n +14 more
2018Human Molecular Genetics16 citations Open access
Semantic Scholar
A purely quantitative form of partial recessive IFN‐&ggr;R2 deficiency caused by mutations of the initiation or second codon
Carmen Oleaga-Quintas, C. Deswarte, M. Moncada-Vélez, A. Meti̇n +14 more
2018Human Molecular Genetics14 citations Open access
Semantic Scholar
Phagocyte NADPH oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency
F. Conti, W. Aragão, Carolina C. M. Prando, C. Deswarte +5 more
2014Journal of Allergy and Clinical Immunology13 citations Open access
Semantic Scholar

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