Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

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Networked: 4 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Bites and Stings (Sting)
2.	Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

Experts

1.	Chauhan, Priyanka: 1 article (10/2022)
2.	Gupta, Anshul: 1 article (10/2022)
3.	Hasan, Faheema: 1 article (10/2022)
4.	Kashyap, Rajesh: 1 article (10/2022)
5.	Mathiyazhagan, Gopinathan: 1 article (10/2022)
6.	Yadav, Sanjeev: 1 article (10/2022)
7.	Gou, Lijuan: 1 article (01/2022)
8.	Jian, Shan: 1 article (01/2022)
9.	Li, Wendao: 1 article (01/2022)
10.	Ma, Jingran: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia:

1.	InterferonsIBA 01/01/2012 - "For example, defects in the clearance of self-antigens and chronic stimulation of type 1 interferons lead to the systemic autoimmunity seen in C1q deficiency, SPENCDI, and AGS. " 12/02/2021 - "The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). "
2.	AutoantigensIBA 01/01/2012 - "For example, defects in the clearance of self-antigens and chronic stimulation of type 1 interferons lead to the systemic autoimmunity seen in C1q deficiency, SPENCDI, and AGS. "
3.	Janus KinasesIBA 01/01/2022 - "This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD). "
4.	Janus Kinase InhibitorsIBA 01/01/2022 - "This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD). "
5.	ruxolitinibIBA 01/01/2022 - "This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD). "
6.	tofacitinibIBA 01/01/2022 - "This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutières syndrome (AGS), and spondyloenchondrodysplasia with immune dysregulation (SPENCD). "
7.	Sirolimus (Rapamycin)FDA Link 10/01/2022 - "Spondyloenchondrodysplasia with immune dysregulation: Role of sirolimus."
8.	Adenosine DeaminaseIBA 12/02/2021 - "The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). "