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

Author

Rensing-Ehl, Anne, 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, Fischer, Ute, Rensing-Ehl, Anne, 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

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

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

Author

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, Meesilpavikai, Kornvalee, 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, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, 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, STAT3 GOF Working Group members, Seppänen, Mikko R. J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., Forbes Satter, Lisa R., 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, Meesilpavikai, Kornvalee, 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, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, 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, STAT3 GOF Working Group members, 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.

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

3. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Author

Farmer, Jocelyn R, Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, Walter, Jolan E, Farmer, Jocelyn R, Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, and Walter, Jolan E

Abstract

BACKGROUND:Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE:Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS:In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS:Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS:Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

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