Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
This study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn Syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. Male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n=25;71.4%), OS (n=5;14.3%), and CID (n=5;14.3%) patients, respectively. Common clinical manifestatio...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Betul Karaatmaca Deniz Cagdas Saliha Esenboga Baran Erman Cagman Tan Tuba Turul Ozgur Kaan Boztug Mirjam Van Der Burg Ozden Sanal Ilhan Tezcan Source Type: research

Myelin oligodendrocyte glycoprotein antibody and N-methyl-d-aspartate receptor antibody overlapping syndrome: insights from the recent case reports
Clin Exp Immunol. 2023 Sep 19:uxad109. doi: 10.1093/cei/uxad109. Online ahead of print.ABSTRACTThe overlapping of two or more types of neural autoantibodies in one patient has increasingly been documented in recent years. The coexistence of myelin oligodendrocyte glycoprotein (MOG) and N-methyl-d-aspartate receptor (NMDAR) antibodies is most common, which leads to a unique condition known as the MOG antibody and NMDAR antibody overlapping syndrome (MNOS). Here, we have reviewed the pathogenesis, clinical manifestations, paraclinical features, and treatment of MNOS. Forty-nine patients with MNOS were included in this study....
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Bing-Qing Du Qi-Lun Lai Er-Chuang Li Meng-Ting Cai Gao-Li Fang Chun-Hong Shen Yin-Xi Zhang Mei-Ping Ding Source Type: research

Interleukin-11 and its eminent role in tissue fibrosis: A possible therapeutic target
Clin Exp Immunol. 2023 Sep 19:uxad108. doi: 10.1093/cei/uxad108. Online ahead of print.ABSTRACTInterleukin-11 is a cytokine from the IL-6 family of cytokines that includes IL-6 and OSM. Initially described for its role in platelet generation, it is now appreciated that this cytokine has multiple functions. Recently it has been found that IL-11 is critical in fibrosis in multiple different organ systems and systemically as in the autoimmune disease systemic sclerosis. Animal models of fibrosis have determined that animals with IL-11 receptor deletions have retarded fibrosis and that in wild type animals IL-11 is found at th...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Steven O'Reilly Source Type: research

Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
This study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn Syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. Male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n=25;71.4%), OS (n=5;14.3%), and CID (n=5;14.3%) patients, respectively. Common clinical manifestatio...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Betul Karaatmaca Deniz Cagdas Saliha Esenboga Baran Erman Cagman Tan Tuba Turul Ozgur Kaan Boztug Mirjam Van Der Burg Ozden Sanal Ilhan Tezcan Source Type: research

Myelin oligodendrocyte glycoprotein antibody and N-methyl-d-aspartate receptor antibody overlapping syndrome: insights from the recent case reports
Clin Exp Immunol. 2023 Sep 19:uxad109. doi: 10.1093/cei/uxad109. Online ahead of print.ABSTRACTThe overlapping of two or more types of neural autoantibodies in one patient has increasingly been documented in recent years. The coexistence of myelin oligodendrocyte glycoprotein (MOG) and N-methyl-d-aspartate receptor (NMDAR) antibodies is most common, which leads to a unique condition known as the MOG antibody and NMDAR antibody overlapping syndrome (MNOS). Here, we have reviewed the pathogenesis, clinical manifestations, paraclinical features, and treatment of MNOS. Forty-nine patients with MNOS were included in this study....
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Bing-Qing Du Qi-Lun Lai Er-Chuang Li Meng-Ting Cai Gao-Li Fang Chun-Hong Shen Yin-Xi Zhang Mei-Ping Ding Source Type: research

Interleukin-11 and its eminent role in tissue fibrosis: A possible therapeutic target
Clin Exp Immunol. 2023 Sep 19:uxad108. doi: 10.1093/cei/uxad108. Online ahead of print.ABSTRACTInterleukin-11 is a cytokine from the IL-6 family of cytokines that includes IL-6 and OSM. Initially described for its role in platelet generation, it is now appreciated that this cytokine has multiple functions. Recently it has been found that IL-11 is critical in fibrosis in multiple different organ systems and systemically as in the autoimmune disease systemic sclerosis. Animal models of fibrosis have determined that animals with IL-11 receptor deletions have retarded fibrosis and that in wild type animals IL-11 is found at th...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Steven O'Reilly Source Type: research

Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
This study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn Syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. Male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n=25;71.4%), OS (n=5;14.3%), and CID (n=5;14.3%) patients, respectively. Common clinical manifestatio...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Betul Karaatmaca Deniz Cagdas Saliha Esenboga Baran Erman Cagman Tan Tuba Turul Ozgur Kaan Boztug Mirjam Van Der Burg Ozden Sanal Ilhan Tezcan Source Type: research

Myelin oligodendrocyte glycoprotein antibody and N-methyl-d-aspartate receptor antibody overlapping syndrome: insights from the recent case reports
Clin Exp Immunol. 2023 Sep 19:uxad109. doi: 10.1093/cei/uxad109. Online ahead of print.ABSTRACTThe overlapping of two or more types of neural autoantibodies in one patient has increasingly been documented in recent years. The coexistence of myelin oligodendrocyte glycoprotein (MOG) and N-methyl-d-aspartate receptor (NMDAR) antibodies is most common, which leads to a unique condition known as the MOG antibody and NMDAR antibody overlapping syndrome (MNOS). Here, we have reviewed the pathogenesis, clinical manifestations, paraclinical features, and treatment of MNOS. Forty-nine patients with MNOS were included in this study....
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Bing-Qing Du Qi-Lun Lai Er-Chuang Li Meng-Ting Cai Gao-Li Fang Chun-Hong Shen Yin-Xi Zhang Mei-Ping Ding Source Type: research

Interleukin-11 and its eminent role in tissue fibrosis: A possible therapeutic target
Clin Exp Immunol. 2023 Sep 19:uxad108. doi: 10.1093/cei/uxad108. Online ahead of print.ABSTRACTInterleukin-11 is a cytokine from the IL-6 family of cytokines that includes IL-6 and OSM. Initially described for its role in platelet generation, it is now appreciated that this cytokine has multiple functions. Recently it has been found that IL-11 is critical in fibrosis in multiple different organ systems and systemically as in the autoimmune disease systemic sclerosis. Animal models of fibrosis have determined that animals with IL-11 receptor deletions have retarded fibrosis and that in wild type animals IL-11 is found at th...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Steven O'Reilly Source Type: research

Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
This study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn Syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. Male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n=25;71.4%), OS (n=5;14.3%), and CID (n=5;14.3%) patients, respectively. Common clinical manifestatio...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Betul Karaatmaca Deniz Cagdas Saliha Esenboga Baran Erman Cagman Tan Tuba Turul Ozgur Kaan Boztug Mirjam Van Der Burg Ozden Sanal Ilhan Tezcan Source Type: research

Myelin oligodendrocyte glycoprotein antibody and N-methyl-d-aspartate receptor antibody overlapping syndrome: insights from the recent case reports
Clin Exp Immunol. 2023 Sep 19:uxad109. doi: 10.1093/cei/uxad109. Online ahead of print.ABSTRACTThe overlapping of two or more types of neural autoantibodies in one patient has increasingly been documented in recent years. The coexistence of myelin oligodendrocyte glycoprotein (MOG) and N-methyl-d-aspartate receptor (NMDAR) antibodies is most common, which leads to a unique condition known as the MOG antibody and NMDAR antibody overlapping syndrome (MNOS). Here, we have reviewed the pathogenesis, clinical manifestations, paraclinical features, and treatment of MNOS. Forty-nine patients with MNOS were included in this study....
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Bing-Qing Du Qi-Lun Lai Er-Chuang Li Meng-Ting Cai Gao-Li Fang Chun-Hong Shen Yin-Xi Zhang Mei-Ping Ding Source Type: research

Interleukin-11 and its eminent role in tissue fibrosis: A possible therapeutic target
Clin Exp Immunol. 2023 Sep 19:uxad108. doi: 10.1093/cei/uxad108. Online ahead of print.ABSTRACTInterleukin-11 is a cytokine from the IL-6 family of cytokines that includes IL-6 and OSM. Initially described for its role in platelet generation, it is now appreciated that this cytokine has multiple functions. Recently it has been found that IL-11 is critical in fibrosis in multiple different organ systems and systemically as in the autoimmune disease systemic sclerosis. Animal models of fibrosis have determined that animals with IL-11 receptor deletions have retarded fibrosis and that in wild type animals IL-11 is found at th...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Steven O'Reilly Source Type: research

Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
This study aimed to define the clinical/laboratory spectrum of RAG1/2 deficiency. We retrospectively reviewed the clinical/laboratory data of 35 patients, grouped them as severe combined immunodeficiency (SCID), Omenn Syndrome (OS), and delayed-onset combined immunodeficiency (CID) and reported nine novel mutations. Male/female ratio was 23/12. Median age of clinical manifestations was 1 months (mo) (0.5-2), 2 mo (1.25-5), and 14 mo (3.63-27), age at diagnosis was 4 mo (3-6), 4.5 mo (2.5-9.75), and 27 mo (14.5-70) in SCID (n=25;71.4%), OS (n=5;14.3%), and CID (n=5;14.3%) patients, respectively. Common clinical manifestatio...
Source: Clinical and Developmental Immunology - September 19, 2023 Category: Allergy & Immunology Authors: Betul Karaatmaca Deniz Cagdas Saliha Esenboga Baran Erman Cagman Tan Tuba Turul Ozgur Kaan Boztug Mirjam Van Der Burg Ozden Sanal Ilhan Tezcan Source Type: research

IL-21, Not IL-17A, Exacerbates Murine Primary Biliary Cholangitis
In this study, we investigated the effects of Th17 effector cytokines, including interleukin (IL)-17A, IL-17F, and IL-21 in PBC using a xenobiotic-induced mouse model of autoimmune cholangitis (inducible chemical xenobiotic models of PBC) treated with cytokine-expressing adeno-associated virus. Our results showed that administration of IL-17A, the well-known main cytokine produced by Th17 cells, did not augment liver inflammation or fibrosis. In contrast, we noted IL-17A-treated mice had lower hepatic Th1 cell numbers and higher hepatic CD11b +Ly6G + polymorphonuclear myeloid-derived suppressor cell numbers. IL-17F did not...
Source: Clinical and Developmental Immunology - September 14, 2023 Category: Allergy & Immunology Authors: Chun-Wen Chan Hung-Wen Chen Yu-Wen Wang Chia-I Lin Ya-Hui Chuang Source Type: research

IL-21, Not IL-17A, Exacerbates Murine Primary Biliary Cholangitis
In this study, we investigated the effects of Th17 effector cytokines, including interleukin (IL)-17A, IL-17F, and IL-21 in PBC using a xenobiotic-induced mouse model of autoimmune cholangitis (inducible chemical xenobiotic models of PBC) treated with cytokine-expressing adeno-associated virus. Our results showed that administration of IL-17A, the well-known main cytokine produced by Th17 cells, did not augment liver inflammation or fibrosis. In contrast, we noted IL-17A-treated mice had lower hepatic Th1 cell numbers and higher hepatic CD11b +Ly6G + polymorphonuclear myeloid-derived suppressor cell numbers. IL-17F did not...
Source: Clinical and Developmental Immunology - September 14, 2023 Category: Allergy & Immunology Authors: Chun-Wen Chan Hung-Wen Chen Yu-Wen Wang Chia-I Lin Ya-Hui Chuang Source Type: research