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2. Inositols and female reproduction disorders: a consensus statement from the working group of the Club of the Italian Society of Endocrinology (SIE)—Women’s Endocrinology

Author

Moretti, Costanzo, Bonomi, Marco, Dionese, Paola, Federici, Silvia, Fulghesu, Anna Maria, Giannelli, Jacopo, Giordano, Roberta, Guccione, Laura, Maseroli, Elisa, Moghetti, Paolo, Mioni, Roberto, Pivonello, Rosario, Sabbadin, Chiara, Scaroni, Carla, Tonacchera, Massimo, Verde, Nunzia, Vignozzi, Linda, and Gambineri, Alessandra

Published
2024
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3. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.

Author

McDonnell, John, Cousins, Kimberley, Younger, M, Lane, Adam, Abolhassani, Hassan, Abraham, Roshini, Al-Tamemi, Salem, Aldave-Becerra, Juan, Al-Faris, Eman, Alfaro-Murillo, Alberto, AlKhater, Suzan, Alsaati, Nouf, Doss, Alexa, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle, Assaad, Amal, Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna, Bleesing, Jack, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan, Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo, Catanzaro, Jason, Chan, Samantha, Chandra, Sharat, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, DAstous-Gauthier, Katherine, Delmonte, Ottavia, Demirdag, Yesim, Deshpande, Deepti, Diaz-Cabrera, Natalie, Dimitriades, Victoria, El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid, Feng, Jin, Fernandez, James, Fill, Lauren, Franco, Guacira, Frenck, Robert, Fuleihan, Ramsay, Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora, Garabedian, Elizabeth, Geerlinks, Ashley, Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh, Hammarström, Lennart, Hartog, Nicholas, Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline, Hostoffer, Robert, Hristova, Nataliya, Hsiao, Kuang-Chih, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael, Joshi, Avni, Kalkat, Amanpreet, Kanarek, Henry, Kellner, Erinn, Khojah, Amer, Khoury, Ruby, Kokron, Cristina, Kumar, Ashish, Lecerf, Kelsey, Lehman, Heather, Leiding, Jennifer, Lesmana, Harry, Lim, Xin, Lopes, Joao, López, Ana, and Tarquini, Lucia

Subjects
Immunization, Immunodeficiency, Outcomes, Viruses: respiratory diseases
Abstract

BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients. The registry opened on January 1, 2022, and closed on August 19, 2022. RESULTS: Physicians entered data on 1245 patients from 24 countries. The most common diagnoses were antibody deficiencies (63.7%). At least one COVID-19 vaccine was administered to 806 patients (64.7%), and 216 patients received vaccination prior to the development of COVID-19. The most common vaccines administered were mRNA-based (84.0%). Seventeen patients were reported to seek outpatient clinic or emergency room care for a vaccine-related complication, and one patient was hospitalized for symptomatic anemia. Eight hundred twenty-three patients (66.1%) experienced COVID-19 infection. Of these, 156 patients required hospitalization (19.0%), 47 required ICU care (5.7%), and 28 died (3.4%). Rates of hospitalization (9.3% versus 24.4%, p

Published
2024

6. Ketogenic nutritional therapy (KeNuT)—a multi-step dietary model with meal replacements for the management of obesity and its related metabolic disorders: a consensus statement from the working group of the Club of the Italian Society of Endocrinology (SIE)—diet therapies in endocrinology and metabolism

Author

Barrea, L., Caprio, M., Camajani, E., Verde, L., Perrini, S., Cignarelli, A., Prodam, F., Gambineri, A., Isidori, A. M., Colao, A., Giorgino, F., Aimaretti, G., and Muscogiuri, G.

Published
2024
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8. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Author

Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, and Fischer, Ute

Subjects
STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes
Abstract

BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. METHODS: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3. RESULTS: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4-CD8-) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate. CONCLUSION: STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

10. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Author

Rossini, Linda, Ricci, Silvia, Montin, Davide, Azzari, Chiara, Gambineri, Eleonora, Tellini, Marco, Conti, Francesca, Pession, Andrea, Saettini, Francesco, Naviglio, Samuele, Valencic, Erica, Magnolato, Andrea, Baselli, Lucia, Azzolini, Sara, Consolini, Rita, Leonardi, Lucia, D’Alba, Irene, Carraro, Elisa, Romano, Roberta, Melis, Daniela, Stagi, Stefano, Cirillo, Emilia, Giardino, Giuliana, Biffi, Alessandra, Pignata, Claudio, Putti, Maria Caterina, and Marzollo, Antonio

Published
2024
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13. Clinical Management of Severe Combined Immunodeficiencies

Author

Pegoraro, Francesco, Voarino, Marta, Gambineri, Eleonora, Emmi, Lorenzo, Series Editor, Prisco, Domenico, Series Editor, Salvarani, Carlo, Editorial Board Member, Sinico, Renato Alberto, Editorial Board Member, Meroni, Pier Luigi, Editorial Board Member, Roccatello, Dario, Editorial Board Member, Matucci-Cerinic, Marco, Editorial Board Member, Gattorno, Marco, Editorial Board Member, de Benedetti, Fabrizio, Editorial Board Member, Cimaz, Rolando, Editorial Board Member, Plebani, Alessandro, Editorial Board Member, Baldari, Cosima Tatiana, Editorial Board Member, D'Elios, Mario Milco, Editorial Board Member, and Vaglio, Augusto, Editorial Board Member

Published
2024
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14. Wastewater Quality Indicator Estimation Using Machine Learning and Data Augmentation Techniques

Author

Cardia, Marco, Chessa, Stefano, Micheli, Alessio, Luminare, Antonella Giuliana, Gambineri, Francesca, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Quintián, Héctor, editor, Corchado, Emilio, editor, Troncoso Lora, Alicia, editor, Pérez García, Hilde, editor, Jove, Esteban, editor, Calvo Rolle, José Luis, editor, Martínez de Pisón, Francisco Javier, editor, García Bringas, Pablo, editor, Martínez Álvarez, Francisco, editor, Herrero Cosío, Álvaro, editor, and Fosci, Paolo, editor

Published
2024
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15. A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association

Author

Roncareggi, Samuele, Girardi, Katia, Fioredda, Francesca, Pedace, Lucia, Arcuri, Luca, Badolato, Raffaele, Bonanomi, Sonia, Borlenghi, Erika, Cirillo, Emilia, Coliva, Tiziana, Consonni, Filippo, Conti, Francesca, Farruggia, Piero, Gambineri, Eleonora, Guerra, Fabiola, Locatelli, Franco, Mancuso, Gaia, Marzollo, Antonio, Masetti, Riccardo, Micalizzi, Concetta, Onofrillo, Daniela, Piccini, Matteo, Pignata, Claudio, Raddi, Marco Gabriele, Santini, Valeria, Vendemini, Francesca, Biondi, Andrea, and Saettini, Francesco

Published
2023
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16. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, Tanja C., Glasmacher, Jannik S., Buchner, Hannes, Arkwright, Peter D., Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J., Buchbinder, David, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogała, Wojciech, Dueckers, Gregor, Edgar, John David M., Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R., Goldman, Frederick D., Gonzalez-Granado, Luis I., Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Kilic, Sara S., Klein, Christoph, Kołtan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M., Notarangelo, Lucia D., Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj, Schulz, Ansgar, Segundo, Gesmar R., Shcherbina, Anna, Slatter, Mary, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B., Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D., and Albert, Michael H.

Published
2024
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17. International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome.

Author

Dimitrova, Dimana, Nademi, Zohreh, Maccari, Maria Elena, Ehl, Stephan, Uzel, Gulbu, Tomoda, Takahiro, Okano, Tsubasa, Imai, Kohsuke, Carpenter, Benjamin, Ip, Winnie, Rao, Kanchan, Worth, Austen JJ, Laberko, Alexandra, Mukhina, Anna, Néven, Bénédicte, Moshous, Despina, Speckmann, Carsten, Warnatz, Klaus, Wehr, Claudia, Abolhassani, Hassan, Aghamohammadi, Asghar, Bleesing, Jacob J, Dara, Jasmeen, Dvorak, Christopher C, Ghosh, Sujal, Kang, Hyoung Jin, Markelj, Gašper, Modi, Arunkumar, Bayer, Diana K, Notarangelo, Luigi D, Schulz, Ansgar, Garcia-Prat, Marina, Soler-Palacín, Pere, Karakükcü, Musa, Yilmaz, Ebru, Gambineri, Eleonora, Menconi, Mariacristina, Masmas, Tania N, Holm, Mette, Bonfim, Carmem, Prando, Carolina, Hughes, Stephen, Jolles, Stephen, Morris, Emma C, Kapoor, Neena, Koltan, Sylwia, Paneesha, Shankara, Steward, Colin, Wynn, Robert, Duffner, Ulrich, Gennery, Andrew R, Lankester, Arjan C, Slatter, Mary, and Kanakry, Jennifer A

Subjects
Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Retrospective Studies, Graft Rejection, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, Young Adult, Phosphatidylinositol 3-Kinases, Kaplan-Meier Estimate, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, MTOR Inhibitors, Primary immunodeficiency, activated phosphoinositide 3-kinase delta syndrome, allogeneic hematopoietic cell transplantation, graft failure, lymphoproliferation, mTOR inhibitor, serotherapy, Rare Diseases, Cancer, Transplantation, Regenerative Medicine, Hematology, allogeneic hemato-poietic cell transplantation, Immunology, Allergy
Abstract

BackgroundActivated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic hematopoietic cell transplantation (HCT).ObjectivesThis study sought to characterize HCT outcomes in APDS.MethodsRetrospective data were collected on 57 patients with APDS1/2 (median age, 13 years; range, 2-66 years) who underwent HCT.ResultsPre-HCT comorbidities such as lung, gastrointestinal, and liver pathology were common, with hematologic malignancy in 26%. With median follow-up of 2.3 years, 2-year overall and graft failure-free survival probabilities were 86% and 68%, respectively, and did not differ significantly by APDS1 versus APDS2, donor type, or conditioning intensity. The 2-year cumulative incidence of graft failure following first HCT was 17% overall but 42% if mammalian target of rapamycin inhibitor(s) (mTORi) were used in the first year post-HCT, compared with 9% without mTORi. Similarly, 2-year cumulative incidence of unplanned donor cell infusion was overall 28%, but 65% in the context of mTORi receipt and 23% without. Phenotype reversal occurred in 96% of evaluable patients, of whom 17% had mixed chimerism. Vulnerability to renal complications continued post-HCT, adding new insights into potential nonimmunologic roles of phosphoinositide 3-kinase not correctable through HCT.ConclusionsGraft failure, graft instability, and poor graft function requiring unplanned donor cell infusion were major barriers to successful HCT. Post-HCT mTORi use may confer an advantage to residual host cells, promoting graft instability. Longer-term post-HCT follow-up of more patients is needed to elucidate the kinetics of immune reconstitution and donor chimerism, establish approaches that reduce graft instability, and assess the completeness of phenotype reversal over time.

Published
2022

18. SPIOMET4HEALTH—efficacy, tolerability and safety of lifestyle intervention plus a fixed dose combination of spironolactone, pioglitazone and metformin (SPIOMET) for adolescent girls and young women with polycystic ovary syndrome: study protocol for a multicentre, randomised, double-blind, placebo-controlled, four-arm, parallel-group, phase II clinical trial

Author

Cristina Garcia-Beltran, Rita Malpique, Marianne S. Andersen, Firdevs Bas, Judit Bassols, Feyza Darendeliler, Marta Díaz, Barbara Dieris, Flaminia Fanelli, Elke Fröhlich-Reiterer, Alessandra Gambineri, Dorte Glintborg, Abel López-Bermejo, Christopher Mann, Silvia Marin, Barbara Obermayer-Pietsch, Rønnaug Ødegård, Pernille Ravn, Thomas Reinehr, Matteo Renzulli, Cristina Salvador, Viola Singer, Eszter Vanky, Juan Vicente Torres, Melek Yildiz, Francis de Zegher, and Lourdes Ibáñez

Subjects
Androgen excess, Polycystic ovary syndrome, PCOS, Ectopic fat, Liver fat, Central obesity, Medicine (General), R5-920
Abstract

Abstract Background Polycystic ovary syndrome (PCOS) is the most prevalent, chronic endocrine-metabolic disorder of adolescents and young women (AYAs), affecting 5–10% of AYAs worldwide. There is no approved pharmacological therapy for PCOS. Standard off-label treatment with oral contraceptives (OCs) reverts neither the underlying pathophysiology nor the associated co-morbidities. Pilot studies have generated new insights into the pathogenesis of PCOS, leading to the development of a new treatment consisting of a fixed, low-dose combination of two so-called insulin sensitisers [pioglitazone (PIO), metformin (MET)] and one mixed anti-androgen and anti-mineralocorticoid also acting as an activator of brown adipose tissue [spironolactone (SPI)], within a single tablet (SPIOMET). The present trial will evaluate the efficacy, tolerability and safety of SPIOMET, on top of lifestyle measures, for the treatment of PCOS in AYAs. Methods In this multicentre, randomised, double-blind, placebo-controlled, four-arm, parallel-group, phase II clinical trial, AYAs with PCOS will be recruited from 7 clinical centres across Europe. Intention is to randomise a total of 364 eligible patients into four arms (1:1:1:1): Placebo, PIO, SPI + PIO (SPIO) and SPI + PIO + MET (SPIOMET). Active treatment over 12 months will consist of lifestyle guidance plus the ingestion of one tablet daily (at dinner time); post-treatment follow-up will span 6 months. Primary endpoint is on- and post-treatment ovulation rate. Secondary endpoints are clinical features (hirsutism, menstrual regularity); endocrine-metabolic variables (androgens, lipids, insulin, inflammatory markers); epigenetic markers; imaging data (carotid intima-media thickness, body composition, abdominal fat partitioning, hepatic fat); safety profile; adherence, tolerability and acceptability of the medication; and quality of life in the study participants. Superiority (in this order) of SPIOMET, SPIO and PIO will be tested over placebo, and if present, subsequently the superiority of SPIOMET versus PIO, and if still present, finally versus SPIO. Discussion The present study will be the first to evaluate—in a randomised, double-blind, placebo-controlled way—the efficacy, tolerability and safety of SPIOMET treatment for early PCOS, on top of a lifestyle intervention. Trial registration EudraCT 2021–003177-58. Registered on 22 December 2021. https://www.clinicaltrialsregister.eu/ctr-search/search?query=%092021-003177-58 .

Published
2023
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19. Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2024
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23. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan

Published
2024
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25. Efficacy of very low-calorie ketogenic diet with the Pronokal® method in obese women with polycystic ovary syndrome: a 16-week randomized controlled trial

Author

Srdjan Pandurevic, Ilaria Mancini, Dimitri Mitselman, Matteo Magagnoli, Rita Teglia, Roberta Fazzeri, Paola Dionese, Carolina Cecchetti, Massimiliamo Caprio, Costanzo Moretti, Justyna Sicinska, Alessandro Agostini, Domenica Gazineo, Lea Godino, Ignacio Sajoux, Flaminia Fanelli, Cristina M Meriggiola, Uberto Pagotto, and Alessandra Gambineri

Subjects
vlckd, pcos, ovulation, hyperandrogenism, weight loss, abdominal obesity, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective: The aim of this study is to assess the efficacy of a very low-calorie ketogenic diet (VLCKD) method vs a Mediterranean low-calorie diet (LCD) in obese polycystic ovary syndrome (PCOS) women of a reproductive age. Design: Randomized controlled open-label trial was performed in this study. The treatment period was 16 weeks; VLCKD for 8 weeks then LCD for 8 weeks, according to the Pronokal® method (experimental group; n = 15) vs Mediterranean LCD for 16 weeks (control group; n = 15). Ovulation monitoring was carried out at baseline and afte r 16 weeks, while a clinical exam, bioelectrical impedance analysis (BIA), anthropometry, and biochemical analyses were performed at baseline, at week 8, and at week 16. Results: BMI decreased significantly in both groups and to a major extent in the experimental group (−13.7% vs −5.1%, P = 0.0003). Significant differences between the experimental and the control groups were also observed in the reduction of waist circumference (−11.4% vs −2.9%), BIA-measured body fat (−24.0% vs −8.1%), and free testosterone (−30.4% vs −12.6%) after 16 weeks (P = 0.0008, P = 0.0176, and P = 0.0009, respectively). Homeostatic model assessment for insulin resistance significantly decreased only in the experimental group (P = 0.0238) but without significant differences with respect to the control group (−23% vs −13.2%, P > 0.05). At baseline, 38.5% of participants in the experimental group and 14.3% of participants in the control group had ovulation, which increased to 84.6% (P = 0.031) and 35.7% (P > 0.05) at the end of the study, respectively. Conclusion: In obese PCOS patients, 16 weeks of VLCKD protocol with the Pronokal® method was more effective than Mediterranean LCD in reducing tot al and visceral fat, and in ameliorating hyperandrogenism and ovulatory dysfunction. Significance statements: To the best of our knowledge, this is the first randomized contr olled trial on the use of the VLCKD method in obese PCOS. It demonstrates the superiority of VLCKD with respect to Mediterranean LCD in reducing BMI with an almost selective reduction of fat mass and a unique effect of VLCKD in reducing v isceral adiposity, insulin resistance, and in increasing SHBG with a consequent reduction of free testosterone. Interestingly, this study also demonstrates the superiority of the VLCKD protocol in improving ovulation, whose occurrence increased by 46.1% in the group treated by the VLCKD method against a rise of 21.4% in the group treated by Mediterranean LCD. This study extends the therapeutic approach possibilities in obese PCOS women.

Published
2023
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26. The physiological sonographic features of the ovary in healthy subjects: a joint systematic review and meta-analysis by the Italian Society of Gynecology and Obstetrics (SIGO) and the Italian Society of Endocrinology (SIE)

Author

Moro, F., Scavello, I., Maseroli, E., Rastrelli, G., Baima Poma, C., Bonin, C., Dassie, F., Federici, S., Fiengo, S., Guccione, L., Villani, M., Gambineri, A., Mioni, R., Moghetti, P., Moretti, C., Persani, L., Scambia, G., Giorgino, F., and Vignozzi, L.

Published
2023
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27. HOMOZYGOUS CBL MUTATION IN B LYMPHOCYTES AFTER CBL-DRIVEN JMML IMPAIRS B CELL MATURATION, FUNCTION AND ANTIBACTERIAL IMMUNITY

Author

Jonathan Bohlen, Marine Michelet, Federica Barzaghi, Francesco Saettini, Francesca Vendemini, Albert Catala, Laia Alsina, Francesca Conti, Fillippo Consonni, Davide Learndini, Riccardo Masetti, Edoardo Muratore, Francesco Baccelli, Ivan Bagaric, Taja Vatovec, Feroj Seyed, Isabelle Andre, Lori Buetow, Eric Delabesse, Laetitia Largeaud, Cindy Ma, Laurent Abel, Steicy Sobrino, Masato Ogishi, Boris Bessot, Cecile Rouillon, Christine Bole, Yoann Seeleuthner, Tom Le Voyer, Darawan Rinchai, Jeremie Rosain, Peng Zhang, Matthieu Chaldebas, Anna-Lena Neehus, Lucia Erazo, Zarah Janda, Camille Soudee, Chantal Lagrese, Emmanuelle Six, Danny Huang, Stuart Tangye, Vivien Beziat, Eleonora Gambineri, Marinella Veltroni, Miriam Erlacher, Alessandro Aiuti, Marlene Pasquet, Jean-Laurent Casanova, and Jacinta Bustamante

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published
2023
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28. A COUNTRYWIDE STUDY OF GATA2 DEFICIENCY IN ITALY REVEALS NOVEL SYMPTOMS AND GENOTYPE-PHENOTYPE CORRELATION

Author

Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Lucia Pedace, Luca Arcuri, Raffaele Badolato, Sonia Bonanomi, Erika Borlenghi, Emilia Cirillo, Tiziana Coliva, Filippo Consonni, Francesca Conti, Piero Farruggia, Eleonora Gambineri, Fabiola Guerra, Gaia Mancuso, Antonio Marzollo, Riccardo Masetti, Concetta Micalizzi, Daniela Onofrillo, Claudio Pignata, Valeria Santini, Francesca Vendemini, Andrea Biondi, and Francesco Saettini

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Published
2023
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29. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2023
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31. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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33. Hirsutism and Virilization

Author

Gambineri, Alessandra, Balsamo, Antonio, Pasquali, Renato, Bandeira, Francisco, editor, Gharib, Hossein, editor, Griz, Luiz, editor, and Faria, Manuel, editor

Published
2022
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34. Is it possible to achieve an acceptable disease control by dietary therapy alone in Berardinelli Seip type 1? Experience from a case report

Author

Carolina Cecchetti, Elisabetta Belardinelli, Paola Dionese, Rita Teglia, Roberta Fazzeri, M. Rosaria D’ Apice, Amanda Vestito, Uberto Pagotto, and Alessandra Gambineri

Subjects
lipodystrophy, congenital generalized, hypolipaemic diet, AGPAT2 gene, metabolic complications, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Background and objectiveSevere metabolic complications generally manifest at an early age in Berardinelli – Seip congenital lipodystrophy (BSCL) and their management is especially challenging. Nutritional intervention with low lipid diets is considered by experts to be fundamental in treating the disease when associated with medical therapy, however little is known about the beneficial effects of dietary interventions alone.AimTo underline the importance of a well-structured low-fat diet in BSCL patients.Methods and resultsA BSCL male patient strictly followed a hypocaloric hypolipemic diet (60% carbohydrates, 22% fats and 18% proteins) since clinical diagnosis at the age of one year. Interestingly, pharmacological interventions were not required at any point during the follow-up. Aged 16 years the patient was referred to our center. Biochemistry, hormonal evaluation, 75 mg oral glucose tolerance test, cardiac evaluation and abdominal ultrasound were performed, revealing no abnormalities. Genetic analysis and leptin dosage were carried out, confirming the diagnosis of BSCL type 1 (homozygosity for c.493-1G>C pathogenic variant in AGPAT2 gene) and showing undetectable circulating levels of leptin (< 0.2 mcg/L). Diet therapy alone was therefore maintained, scheduling follow-up visits every six months, with acceptable disease control ever since.ConclusionsThis report proves how a low-fat diet is of great help in the management of BSCL and its complications. In addition, a specific hypolipemic diet could be used alone as an effective treatment in selected cases with high compliance and, probably, a milder phenotype.

Published
2023
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35. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, Albert, Michael H, Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, and Albert, Michael H

Abstract

Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (range, 0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% confidence interval, 78-87) at age 15 years and 70% (61-80) at 30 years. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hot spot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared with 71% (62-81) and 48% (34-68) in patients with any other variant (class II; P < .0001). The cumulative incidence rates of disease-related complications such as severe bleeding (P = .007), life-threatening infection (P < .0001), and autoimmunity (P = .004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (P = .6) was not different between classes I and II. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of the variant is a biomarker to predict the outcome for patients with WAS.

Published
2024

37. Can dysglycemia in OGTT be predicted by baseline parameters in patients with PCOS?

Author

Sarantis Livadas, Christina Bothou, Justyna Kuliczkowska-Płaksej, Ralitsa Robeva, Andromahi Vryonidou, Jelica Bjekic Macut, Ioannis Androulakis, Milica Opalic, Zadalla Mouslech, Andrej Milewicz, Alessandra Gambineri, Dimitrios Panidis, and Djuro Macut

Subjects
polycystic ovary syndrome, diabetes, insulin resistance, androgens, age, impaired glucose tolerance, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Background: Polycystic ovary syndrome (PCOS) is considered a risk factor f or the development of type 2 diabetes mellitus (T2DM). However, which is the most appropriate way to evaluate dysglycemia in women with PCOS and who are at i ncreased risk are as yet unclear. Aim of the study: To determine the prevalence of T2DM, impaired glucose toleranc e (IGT), and impaired fasting glucose (IFG) in PCOS women and potential factors to identify those at risk. Subjects and methods: The oral glucose tolerance test (OGTT), biochemical/hormonal profile, and ovarian ultrasound data from 1614 Caucasian women w ith PCOS and 362 controls were analyzed in this cross-sectional multicenter study. The data were categorized according to age and BMI. Results: Dysglycemia (T2DM, IGT, and IFG according to World Health Orga nization criteria) was more frequent in the PCOS group compared to controls: 2.2% vs 0.8%, P = 0.04; 9.5% vs 7.4%, P = 0.038; 14.2% vs 9.1%, P = 0.002, respectively. OGTT was essential for T2DM diagnosis, since in 88% of them basal glucose values were incon clusive for diagnosis. The presence of either T2DM or IFG was irrespective of age ( P = 0.54) and BMI (P = 0.32), although the latter was associated with IGT ( P = 0.021). There was no impact of age and BMI status on the prevalence of T2DM or IFG. Regression analysi s revealed a role for age, BMI, fat deposition, androgens, and insulin resistance for dysg lycemia. However, none of the factors prevailed as a useful marker employed in clinical p ractice. Conclusions: One-third of our cohort of PCOS women with either T2DM or IGT displayed normal fasting glucose values but without confirming any specific predictor for dysglycemic condition. Hence, the evaluation of glycemic status using OGTT in all women with PCOS is strongly supported.

Published
2022
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38. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Author

Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

Subjects
Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy
Abstract

BackgroundImmunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.ObjectiveThis analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.MethodsClinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed.ResultsWe confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS.ConclusionsPatients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

Published
2018

39. IPEX Syndrome and IPEX-Related Disorders

Author

Schiavo, Ebe, Goda, Rayan, Ciullini Mannurita, Sara, Gambineri, Eleonora, Emmi, Lorenzo, Series Editor, Prisco, Domenico, Series Editor, Salvarani, Carlo, Editorial Board Member, Sinico, Renato Alberto, Editorial Board Member, Meroni, Pier Luigi, Editorial Board Member, Roccatello, Dario, Editorial Board Member, Matucci-Cerinic, Marco, Editorial Board Member, Gattorno, Marco, Editorial Board Member, de Benedetti, Fabrizio, Editorial Board Member, Cimaz, Rolando, Editorial Board Member, Plebani, Alessandro, Editorial Board Member, Baldari, Cosima Tatiana, Editorial Board Member, D'Elios, Mario Milco, Editorial Board Member, Vaglio, Augusto, Editorial Board Member, and Annunziato, Francesco, editor

Published
2021
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40. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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42. Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction

Author

Elisa Schena, Elisabetta Mattioli, Chiara Peres, Laura Zanotti, Paolo Morselli, Patricia Iozzo, Maria Angela Guzzardi, Chiara Bernardini, Monica Forni, Salvatore Nesci, Massimiliano Caprio, Carolina Cecchetti, Uberto Pagotto, Elena Gabusi, Luca Cattini, Gina Lisignoli, William Blalock, Alessandra Gambineri, and Giovanna Lattanzi

Subjects
type 2 familial partial lipodystrophy (FPLD2), mineralocorticoid receptor (MR), spironolactone, lamin A/C, prelamin A, adipose tissue, Cytology, QH573-671
Abstract

Type-2 Familial Partial Lipodystrophy (FPLD2), a rare lipodystrophy caused by LMNA mutations, is characterized by a loss of subcutaneous fat from the trunk and limbs and excess accumulation of adipose tissue in the neck and face. Several studies have reported that the mineralocorticoid receptor (MR) plays an essential role in adipose tissue differentiation and functionality. We previously showed that brown preadipocytes isolated from a FPLD2 patient’s neck aberrantly differentiate towards the white lineage. As this condition may be related to MR activation, we suspected altered MR dynamics in FPLD2. Despite cytoplasmic MR localization in control brown adipocytes, retention of MR was observed in FPLD2 brown adipocyte nuclei. Moreover, overexpression of wild-type or mutated prelamin A caused GFP-MR recruitment to the nuclear envelope in HEK293 cells, while drug-induced prelamin A co-localized with endogenous MR in human preadipocytes. Based on in silico analysis and in situ protein ligation assays, we could suggest an interaction between prelamin A and MR, which appears to be inhibited by mineralocorticoid receptor antagonism. Importantly, the MR antagonist spironolactone redirected FPLD2 preadipocyte differentiation towards the brown lineage, avoiding the formation of enlarged and dysmorphic lipid droplets. Finally, beneficial effects on brown adipose tissue activity were observed in an FPLD2 patient undergoing spironolactone treatment. These findings identify MR as a new lamin A interactor and a new player in lamin A-linked lipodystrophies.

Published
2023
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43. Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Author

Kuehn, Hye Sun, Niemela, Julie E., Stoddard, Jennifer, Mannurita, Sara Ciullini, Shahin, Tala, Goel, Shubham, Hintermeyer, Mary, Heredia, Raul Jimenez, Garofalo, Mary, Lucas, Laura, Singh, Smriti, Tondo, Annalisa, Jacobs, Zachary, Gahl, William A., Latour, Sylvain, Verbsky, James, Routes, John, Cunningham-Rundles, Charlotte, Boztug, Kaan, Gambineri, Eleonora, Fleisher, Thomas A., Chandrakasan, Shanmuganathan, and Rosenzweig, Sergio D.

Published
2021
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44. Contributors

Author

Abbott, David H., primary, Altieri, Paola, additional, Anagnostis, Panagiotis, additional, Antoniou-Tsigkos, Athanasios, additional, Armeni, Eleni, additional, Balen, Adam H., additional, Barber, Thomas M., additional, Benvenga, Salvatore, additional, Carmina, Enrico, additional, Cecchetti, Carolina, additional, Crisosto, Nicolás, additional, Di Bari, Flavia, additional, Diamanti-Kandarakis, Evanthia, additional, Dinicola, Simona, additional, Escobar-Morreale, Héctor F., additional, Fanelli, Flaminia, additional, Fighera, T.M., additional, Forte, Gianpiero, additional, Gambineri, Alessandra, additional, Georgescu, Carmen Emanuela, additional, Georgopoulos, Neoklis A., additional, Goulis, Dimitrios G., additional, Greinwald, Emily P., additional, Kahal, Hassan, additional, Kandaraki, Eleni, additional, Kyrou, Ioannis, additional, Lambrinoudaki, Irene, additional, Lecke, S.B., additional, Levine, Jon E., additional, Marchesan, L.B., additional, Markantes, Georgios K., additional, Mascarenhas, Mariano, additional, Mastorakos, George, additional, Memi, Eleni, additional, Moghetti, Paolo, additional, Monastra, Giovanni, additional, Oguz, Seda Hanife, additional, Pagotto, Uberto, additional, Papadimitriou, Kasiani, additional, Papalou, Olga, additional, Pastroma, Konstantina, additional, Pereira, Sofia S., additional, Pignatelli, Duarte, additional, Preiato, Valentina Lo, additional, Randeva, Harpal S., additional, Ribichini, Danilo, additional, Santos, B.R., additional, Sendur, Suleyman Nahit, additional, Spritzer, P.M., additional, Tilotta, Marco, additional, Tsichlia, Gina, additional, Unfer, Vittorio, additional, Unluturk, Ugur, additional, Vrachnis, Nikolaos, additional, Weickert, Martin O., additional, and Yildiz, Bulent Okan, additional

Published
2022
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46. Assessment of Type 2 Diabetes Risk in Young Women with Polycystic Ovary Syndrome

Author

Sarantis Livadas, Rodis Paparodis, Panagiotis Anagnostis, Alessandra Gambineri, Jelica Bjekić-Macut, Tijana Petrović, Bulent O. Yildiz, Dragan Micić, George Mastorakos, and Djuro Macut

Subjects
PCOS, diabetes mellitus, insulin resistance, androgens, age, Medicine (General), R5-920
Abstract

Women with polycystic ovary syndrome (PCOS) are at increased risk for dysglycemia and type 2 diabetes compared to healthy BMI-matched women of reproductive age: robust evidence exists supporting this notion. The presence of altered glycemic status in young women with the syndrome presents a distinct challenge for the clinician for several reasons. Firstly, the reported incidence of this disorder varies among the limited available studies. Furthermore, there is a lack of consensus on the best screening method, which women to screen, at what frequency, and which strategies need to be implemented to reduce the above risk. We provide data regarding the prevalence of dysglycemia in young women suffering from PCOS and the pathophysiological mechanisms underlying the disorder. In addition, we present evidence suggesting universal screening with the oral glucose tolerance test in young women with the syndrome, irrespective of age or BMI status, to identify and manage glycemic abnormalities in a timely manner. Regarding follow-up, oral glucose testing should be carried out at regular intervals if there are initial abnormal findings or predisposing factors. Finally, the efficacy of a well-balanced diet in conjunction with regular exercise and the use of non-pharmacologic agents in this specific population is discussed.

Published
2023
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49. Obesity in women with polycystic ovary syndrome -an individual participant data meta-analysis of well characterised, unselected populations

Author

Melin, Johanna, primary, Azziz, Ricardo, additional, Suturina, Larisa, additional, Zhao, Xiaomiao, additional, Gambineri, Alessandra, additional, Tehrani, Fahimeh, additional, Yildiz, Bulent, additional, Ju, Kim Jin, additional, Makwe, Christian, additional, Teede, Helena, additional, and Joham, Anju, additional

Published
2024
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50. Defining the normative cut-off for hirsutism in unselected populations: cluster analysis

Author

Bizuneh, Asmamaw, primary, Joham, Anju, additional, Thien, Tay Chau, additional, Earnest, Arul, additional, Suturina, Larisa, additional, Zhao, Xiaomiao, additional, Gambineri, Alessandra, additional, Tehrani, Fahimeh, additional, Yildiz, Bulent, additional, Kim, Jinju, additional, Xu, Liangzhi, additional, Makwe, Christian, additional, Teede, Helena, additional, and Azziz, Riccardo, additional

Published
2024
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