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24. Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China

Author

Li, Wendao, Wang, Wei, Zhong, Linqing, Gou, Lijuan, Wang, Changyan, Ma, Jingran, Quan, Meiying, Jian, Shan, Tang, Xiaoyan, Zhang, Yu, Wang, Lin, Ma, Mingsheng, and Song, Hongmei

Subjects
Autoimmune Diseases of the Nervous System, Immunology, Immunologic Deficiency Syndromes, Humans, Janus Kinase Inhibitors, Immunology and Allergy, Interferons, Vascular Diseases, Nervous System Malformations, Osteochondrodysplasias, Antiviral Agents, Autoimmune Diseases
Abstract

ObjectiveThis 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).MethodsA total of 6 patients were considered in this study: 2 patients with SAVI, 1 patient with AGS1, 1 patient with AGS7, and 2 patients with SPENCD. Clinical manifestations, laboratory investigations, radiology examinations, treatment, and outcomes were collected between November 2017 and November 2021 in Peking Union Medical College Hospital. The disease score for patients with SAVI and AGS scale for patients with AGS were documented. The expression of 6 interferon-stimulated genes (ISGs) was assessed by real-time PCR.ResultsThree patients (1 patient with SAVI, 2 patients with AGS) were treated with ruxolitinib and 3 patients (1 patient with SAVI, 2 patients with SPENCD) were treated with tofacitinib. The mean duration of the treatment was 2.5 years (1.25–4 years). Upon treatment, cutaneous lesions and febrile attacks subsided in all affected patients. Two patients discontinued the corticoid treatment. Two patients with SAVI showed an improvement in the disease scores (p p ConclusionThe JAK inhibitors baricitinib and tofacitinib are promising therapeutic agents for patients with SAVI, AGS, and SPENCD, especially for the improvement of cutaneous lesions and febrile attacks. However, further cohort studies are needed to assess the efficacy and safety.

Published
2022

32. Familial Mediterranean Fever in Chinese Children: A Case Series

Author

Li, Ji, primary, Wang, Wei, additional, Zhong, Linqing, additional, Pan, Junyan, additional, Yu, Zhongxun, additional, Jian, Shan, additional, Wang, Changyan, additional, Ma, Mingsheng, additional, Tang, Xiaoyan, additional, Wang, Lin, additional, Quan, Meiying, additional, Zhang, Yu, additional, Xiao, Juan, additional, and Song, Hongmei, additional

Published
2019
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35. A Study of Holon and Spinon Excitations of Hubbard Model through Ultracold Atomic Quantum Simulation

Author

Wang, Changyan

Subjects
Quantum Physics, Condensed Matter Physics
Abstract

The 2D Hubbard model with large repulsion is a central and yet unsolved problem in condensed matter physics for decades. The challenge appears below half filling, where the system is a doped antiferromagnet (AFM). In this regime, the fermion excitations are nothing like those in a Fermi liquid, which carry both spin and charge. Rather, they split up into holons and spinons, carrying charge and spin separately. Moreover, the motion of a holon is believed to stir up the underlying antiferromagnetic order, leaving behind it a string of spins mismatched with the AFM. While direct observation of the holon string is difficult in electron systems, it has become possible in cold atom experiments due to recent experimental advances. Here, we point out the key feature of the holon strings, i.e. its Marshall phase, can be observed through measurements of spin correlations. Moreover, the interference of these strings leads to an anisotropic holon propagation clearly distinguishable than those of spinless fermions, as well as a large suppression of the magnetic order in the region swept through by the strings, as if the system is driven towards a spin liquid. Furthermore, We demonstrate that how the spinon changes the Marshall phase of the holon strings, leading to a change in the holon propagation behavior.

Published
2022

37. Selective immunoglobulin A deficiency (SIgAD) primarily leads to recurrent infections and autoimmune diseases: A retrospective study of Chinese patients in the past 40 years.

Author

Wang W, Yao T, Zhang T, Quan M, Wang C, Wang C, Zhang L, Tang X, Jian S, and Song H

Abstract

Selective immunoglobulin A deficiency (SIgAD) is considered to be the most common human primary immune-deficiency disease in the world. However, the incidence in China is obviously lower than Caucasian races. The definition of SIgAD has changed over time with the progress of people's understanding. The scientific community did not reach a consensus on the definition until 1999. As a result, many previously reported cases need to be excluded under the current definition. SIgAD can lead to several spectra of diseases including infections and autoimmune diseases. We retrospectively summarized the SIgAD patients in Peking Union Medical College Hospital (PUMCH), and summarized the Chinese SIgAD reported in China and abroad in past 40 years. Fourty three SIgAD patients were confirmed in the study, in which 9 were healthy without clinical symptoms. Of the 34 patients with clinical symptoms, recurrent infections were found in 29 (85.3%) patients; 13 (38.2%) patients were with autoimmune diseases; 6 (17.6%)cases had allergic symptoms; 3 patients (8.8%) were with tumors, only one case (2.9%) had a family history. Compared with other countries, sIgAD patients in China showed similar symptoms, but the rate of recurrent infections and autoimmune diseases were higher than some other countries; most of the allergic symptoms are drug allergy, different with the allergic sequelae reported in other countries, such as asthma, rhinitis, food allergy and atopic dermatitis; and it is rare to have family history in Chinese patients. We also figured out that more female SIgAD patients tend to have more autoimmune diseases than men (P = 0.039)., (© 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.)

Published
2019
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38. [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].

Author

Zhang J, Wang C, Li M, and Qiu Z

Subjects
Child, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation, Missense, Rubinstein-Taybi Syndrome diagnosis, CREB-Binding Protein genetics, Mutation genetics, Rubinstein-Taybi Syndrome genetics
Abstract

Objective: To investigate the clinical and genetic features of 2 patients with Rubinstein-Taybi syndrome., Method: Using next generation sequencing (NGS) the CREBBP and EP300 genes of 2 children who were diagnosed as Rubinstein-Taybi syndrome at Peking Union Medical College Hospital. The mutations identified by NGS were verified by PCR were analyzed., Result: The 2 patients at the age of 5 months and 4.5 years manifested short stature (the height were 60 cm and 99 cm respectively), low hairline, thick and dense hair and eyebrows, long lash, epicanthus of both eyes, protruded supercilliary arch, broad and flat thumbs and halluces, and particular facial abnormalities. Patient 2 had language retardation besides. One missense mutation of c.3535A>G, p.Ser1179Gly was found in CREBBP gene in patient 1 and one microdeletion mutation of c.4995_4999delCGCCT, p. Ala1666Pro fs66x was found inpatient 2. Both mutations were reported for the first time., Conclusion: Rubinstein-Taybi syndrome is characterized by mental and growth retardation, wide and flat thumbs and first toes, and dysmorphic facial features. CREBBP is one of the causative genes. Mutation detection on CREBBP gene can confirm the diagnosis of Rubinstein-Taybi syndrome.

Published
2014

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