JAK inhibition in Down Syndrome Regression Disorder

被引：1

作者：

Rachubinski, Angela L. ^{[1
,2
]}

Patel, Lina R. ^{[1
]}

Sannar, Elise M. ^{[3
]}

Kammeyer, Ryan M. ^{[4
]}

Sanders, Jessica ^{[2
]}

Enriquez-Estrada, Belinda A. ^{[1
]}

Worek, Kayleigh R. ^{[1
]}

Fidler, Deborah J. ^{[5
]}

Santoro, Jonathan D. ^{[6
,7
]}

Espinosa, Joaquin M. ^{[1
,8
]}

机构：

[1] Univ Colorado, Linda Crn Inst Down Syndrome, Anschutz Med Campus, 12700 East 19th Ave, Aurora, CO 80045 USA

[2] Univ Colorado, Dept Pediat, Sect Dev Pediat, Anschutz Med Campus, 13123 E 16th Ave B065, Aurora, CO 80045 USA

[3] Univ Colorado, Dept Psychiat, Anschutz Med Campus, 13123 E 16th Ave, Aurora, CO 80045 USA

[4] Univ Colorado, Sch Med, Dept Neurol, Sect Neuroimmunol, 13123 E 16th Ave, Aurora, CO 80045 USA

[5] Colorado State Univ, Human Dev & Family Studies, 313 Behav Sci, Ft Collins, CO 80523 USA

[6] Childrens Hosp Los Angeles, Dept Pediat, Div Neurol, 4650 Sunset Blvd,MS82, Los Angeles, CA 90027 USA

[7] Univ Southern Calif, Dept Neurol, Keck Sch Med, 1520 San Pablo St, Los Angeles, CA 90033 USA

[8] Univ Colorado, Dept Pharmacol, Anschutz Med Campus, 12800 East 19th Ave 6126, Aurora, CO 80045 USA

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2024年 / 395卷

关键词：

Down syndrome regression disorder (DSRD); JAK inhibition; Catatonia; Tofacitinib; Interferon; DEVELOPMENTAL REGRESSION; PSYCHOSOCIAL STRESS; CHILDREN; ADOLESCENTS; INTERFERON; DEPRESSION;

D O I：

10.1016/j.jneuroim.2024.578442

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Down Syndrome Regression Disorder (DRSD) is an uncommon but devastating condition affecting primarily adolescents and young adults with Down syndrome (DS). Individuals with DS display a dysregulated immune system associated with hyperactive interferon signaling, which is associated with a high incidence of autoimmune conditions. While the cause of DSRD is unknown, increasing evidence indicates that it may have an immune basis, and some individuals with DSRD have responded to intravenous immunoglobulin therapy. This case series describes three individuals with probable DSRD who received the JAK inhibitor tofacitinib and saw improvement in DSRD symptoms across multiple domains of neurological function.

引用

页数：5

共 29 条

[1] Amr Nermine H, 2018, Acta Biomed, V89, P132, DOI 10.23750/abm.v89i1.7120
[2] Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity
Araya, Paula
Waugh, Katherine A.
Sullivan, Kelly D.
Nunez, Nicolas G.
Roselli, Emiliano
Smith, Keith P.
Granrath, Ross E.
Rachubinski, Angela L.
Estrada, Belinda Enriquez
Butcher, Eric T.
Minter, Ross
Tuttle, Kathryn D.
Bruno, Tullia C.
Maccioni, Mariana
Espinosa, Joaquin M.
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116 (48) : 24231 - 24241
[3] Immunotherapy in selected patients with Down syndrome disintegrative disorder
Cardinale, Kathleen M.
Bocharnikov, Alexandra
Hart, Sarah J.
Baker, Jane Ann
Eckstein, Christopher
Jasien, Joan M.
Gallentine, William
Worley, Gordon
Kishnani, Priya S.
Van Mater, Heather
[J]. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2019, 61 (07) : 847 - +
[4] Estimates of the Live Births, Natural Losses, and Elective Terminations with Down Syndrome in the United States
de Graaf, Gert
Buckley, Frank
Skotko, Brian G.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (04) : 756 - 767
[5] REGRESSION: ATYPICAL Loss OF ATTAINED FUNCTIONING IN CHILDREN AND ADOLESCENTS WITH DOWN SYNDROME
Devenny, Darlynne
Matthews, Anna
[J]. INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES, VOL 41, 2011, 41 : 233 - 264
[6] Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition
Galbraith, Matthew D.
Rachubinski, Angela L.
Smith, Keith P.
Araya, Paula
Waugh, Katherine A.
Enriquez-Estrada, Belinda
Worek, Kayleigh
Granrath, Ross E.
Kinning, Kohl T.
Eduthan, Neetha Paul
Ludwig, Michael P.
Hsieh, Elena W. Y.
Sullivan, Kelly D.
Espinosa, Joaquin M.
[J]. SCIENCE ADVANCES, 2023, 9 (26)
[7] Catatonia in Down syndrome; a treatable cause of regression
Ghaziuddin, Neera
Nassiri, Armin
Miles, Judith H.
[J]. NEUROPSYCHIATRIC DISEASE AND TREATMENT, 2015, 11 : 941 - 949
[8] Acute Regression in Down Syndrome
Handen, Benjamin
Clare, Isabel
Laymon, Charles
Petersen, Melissa
Zaman, Shahid
O'Bryant, Sid
Minhas, Davneet
Tudorascu, Dana
Brown, Stephanie
Christian, Bradley
[J]. BRAIN SCIENCES, 2021, 11 (08)
[9] Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder
Hart, Sarah J.
Worley, Gordon
Kishnani, Priya S.
Van Mater, Heather
[J]. FRONTIERS IN NEUROLOGY, 2021, 12
[10] Routine Screening for Celiac Disease in Children With Down Syndrome Improves Case Finding
Liu, Edwin
Wolter-Warmerdam, Kristine
Marmolejo, Juana
Daniels, Dee
Prince, Garrett
Hickey, Fran
[J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2020, 71 (02) : 252 - 256

← 1 2 3 →