Dr. Antonio Condino-Neto

@article{pmid34547651,

title = {Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)},

author = {Dirk Roos and Karin van Leeuwen and Amy P Hsu and Debra Long Priel and Amber Begtrup and Rhonda Brandon and Amit Rawat and Pandiarajan Vignesh and Manesha Madkaikar and Marie José Stasia and Faris Ghalib Bakri and Martin de Boer and Joachim Roesler and Nezihe Köker and M Yavuz Köker and Marianne Jakobsen and Jacinta Bustamante and Maria Bravo Garcia-Morato and Juan Luis Valdivieso Shephard and Deniz Cagdas and Ilhan Tezcan and Roya Sherkat and Esmaeil Mortaz and Abbas Fayezi and Mohammad Shahrooei and Baruch Wolach and Lizbeth Blancas-Galicia and Hirokazu Kanegane and Toshinao Kawai and Antonio Condino-Neto and Mauno Vihinen and Christa S Zerbe and Steven M Holland and Harry L Malech and John I Gallin and Douglas B Kuhns},

doi = {10.1016/j.bcmd.2021.102596},

issn = {1096-0961},

year  = {2021},

date = {2021-12-01},

urldate = {2021-12-01},

journal = {Blood Cells Mol Dis},

volume = {92},

pages = {102596},

abstract = {Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species (ROS). These products are essential for intracellular killing of pathogens by phagocytic leukocytes (neutrophils, eosinophils, monocytes and macrophages). The leukocyte NADPH oxidase is composed of five subunits, four of which are encoded by autosomal genes. These are CYBA, encoding p22, NCF1, encoding p47, NCF2, encoding p67 and NCF4, encoding p40. This article lists all mutations identified in these genes in CGD patients. In addition, cytochrome b chaperone-1 (CYBC1), recently recognized as an essential chaperone protein for the expression of the X-linked NADPH oxidase component gp91 (also called Nox2), is encoded by the autosomal gene CYBC1. Mutations in this gene also lead to CGD. Finally, RAC2, a small GTPase of the Rho family, is needed for activation of the NADPH oxidase, and mutations in the RAC2 gene therefore also induce CGD-like symptoms. Mutations in these last two genes are also listed in this article.},

keywords = {hematologia},

pubstate = {published},

tppubtype = {article}

}

@article{pmid34175765,

title = {Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)},

author = {Dirk Roos and Karin van Leeuwen and Amy P Hsu and Debra Long Priel and Amber Begtrup and Rhonda Brandon and Marie José Stasia and Faris Ghalib Bakri and Nezihe Köker and M Yavuz Köker and Manisha Madkaika and Martin de Boer and Maria Bravo Garcia-Morato and Juan Luis Valdivieso Shephard and Joachim Roesler and Hirokazu Kanegane and Toshinao Kawai and Gigliola Di Matteo and Mohammad Shahrooei and Jacinta Bustamante and Amit Rawat and Pandiarajan Vignesh and Esmaeil Mortaz and Abbas Fayezi and Deniz Cagdas and Ilhan Tezcan and Maleewan Kitcharoensakkul and Mary C Dinauer and Isabelle Meyts and Baruch Wolach and Antonio Condino-Neto and Christa S Zerbe and Steven M Holland and Harry L Malech and John I Gallin and Douglas B Kuhns},

doi = {10.1016/j.bcmd.2021.102587},

issn = {1096-0961},

year  = {2021},

date = {2021-09-01},

urldate = {2021-09-01},

journal = {Blood Cells Mol Dis},

volume = {90},

pages = {102587},

abstract = {Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients in Europe and in about 20% in countries with a high ratio of parental consanguinity. This article lists all mutations identified in CYBB and should therefore help in genetic counseling of X-CGD patients' families. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of disease-causing mutations. In addition, we also include some mutations in G6PD, the gene on the X chromosome that encodes glucose-6-phosphate dehydrogenase, because inactivity of this enzyme may lead to shortage of NADPH and thus to insufficient activity of NADPH oxidase. Severe G6PD deficiency can induce CGD-like symptoms.},

keywords = {hematologia},

pubstate = {published},

tppubtype = {article}

}

@article{pmid34255742,

title = {CD40L modulates transcriptional signatures of neutrophils in the bone marrow associated with development and trafficking},

author = {Tábata Takahashi França and Ashraf Al-Sbiei and Ghada Bashir and Yassir Awad Mohamed and Ranieri Coelho Salgado and Lucila Akune Barreiros and Sarah Maria da Silva Napoleão and Cristina Worm Weber and Janaíra Fernandes Severo Ferreira and Carolina Sanchez Aranda and Carolina Prando and Mayra B de Barros Dorna and Igor Jurisica and Maria J Fernandez-Cabezudo and Hans D Ochs and Antonio Condino-Neto and Basel K Al-Ramadi and Otavio Cabral-Marques},

doi = {10.1172/jci.insight.148652},

issn = {2379-3708},

year  = {2021},

date = {2021-08-01},

urldate = {2021-08-01},

journal = {JCI Insight},

volume = {6},

number = {16},

abstract = {Neutrophils are produced in the BM in a process called granulopoiesis, in which progenitor cells sequentially develop into mature neutrophils. During the developmental process, which is finely regulated by distinct transcription factors, neutrophils acquire the ability to exit the BM, properly distribute throughout the body, and migrate to infection sites. Previous studies have demonstrated that CD40 ligand (CD40L) influences hematopoiesis and granulopoiesis. Here, we investigate the effect of CD40L on neutrophil development and trafficking by performing functional and transcriptome analyses. We found that CD40L signaling plays an essential role in the early stages of neutrophil generation and development in the BM. Moreover, CD40L modulates transcriptional signatures, indicating that this molecule enables neutrophils to traffic throughout the body and to migrate in response to inflammatory signals. Thus, our study provides insights into the complex relationships between CD40L signaling and granulopoiesis, and it suggests a potentially novel and nonredundant role of CD40L signaling in neutrophil development and function.},

keywords = {hematologia},

pubstate = {published},

tppubtype = {article}

}