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Human ISG15 and USP18 Deficiencies Underlying Type I Interferonopathies

Award Number: R01AI127372
ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 04/16/2024
PERIOD OF PERFORMANCE END DATE: 05/31/2027

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Human ISG15 and USP18 Deficiencies Underlying Type I Interferonopathies - Project Summary Type I interferons (IFN-Is) have well-documented potent antiviral and inflammatory properties. However, we and others have shown that the inflammatory effects of these cytokines can have detrimental effects on human health. Disorders caused by the prolonged effects of IFN-Is are collectively known as type I interferonopathies. Mendelian type I interferonopathies, such as Aicardi–Goutières syndrome (AGS) and spondyloenchondromatosis (SPENCD) are prime examples of severe neurologic, autoinflammatory and autoimmune diseases caused by the perpetual induction of IFN-Is. We have recently described more than 20 children presenting Mendelian type I interferonopathy. Genetically, we have shown these conditions to be due to complete or partial deficiencies of ISG15 or USP18. These deficiencies affect downregulation of the IFN-I response. Individuals with deficiencies of ISG15 or USP18 have high levels of IFN-I-stimulated gene products in their blood cells, high levels of resistance to viral infections, but also neurologic, autoinflammatory and autoimmune manifestations, akin to those of AGS and SPENCD. This proposal is built around the hypothesis that the pathogenesis of these deficiencies is driven by IFN-I responses in specific tissues, and that these responses could be harnessed in the development of new treatments. We plan to test this hypothesis by studying these deficiencies in vitro, ex vivo, and in vivo at the molecular, immunological, and tissue-specific levels, to determine their functional significance in IFN-I pathway regulation and resistance to viral infections in humans. Improvements in our understanding of the molecular regulation of IFN-I should shed light on the pathophysiology of these deficiencies, paving the way for the development of new treatments for managing persistent inflammatory disorders and enhancing antiviral responses.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $465,050 )
2026	2026	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Allergy and Infectious Diseases Research	000	10	5/27/2026	NON-COMPETING CONTINUATION	$465,050
														Subtotal = $465,050

Issue Date FY: 2025 ( Subtotal = $437,310 )
2025	2025	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Allergy and Infectious Diseases Research	000	9	8/1/2025	NON-COMPETING CONTINUATION	$437,310
														Subtotal = $437,310

Issue Date FY: 2024 ( Subtotal = $460,164 )
2024	2024	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Allergy and Infectious Diseases Research	004	8	9/19/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$236,451
2024	2024	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Allergy and Infectious Diseases Research	001	8	7/5/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$460,164
2024	2023	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	002	7	7/9/2024	NON-COMPETING CONTINUATION	$0
2024	2023	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	003	7	9/19/2024	NON-COMPETING CONTINUATION	-$236,451
2024	2021	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	5	4/4/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $460,164

Issue Date FY: 2023 ( Subtotal = $506,430 )
2023	2023	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	7	7/12/2023	NON-COMPETING CONTINUATION	$506,430
														Subtotal = $506,430

Issue Date FY: 2022 ( Subtotal = $523,681 )
2022	2022	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	6	3/1/2022	COMPETING CONTINUATION	$523,681
														Subtotal = $523,681

Issue Date FY: 2021 ( Subtotal = $423,750 )
2021	2021	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	5	5/24/2021	NON-COMPETING CONTINUATION	$423,750
														Subtotal = $423,750

Issue Date FY: 2020 ( Subtotal = $423,750 )
2020	2020	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	4	5/4/2020	NON-COMPETING CONTINUATION	$423,750
														Subtotal = $423,750

Issue Date FY: 2019 ( Subtotal = $423,750 )
2019	2019	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	3	5/24/2019	NON-COMPETING CONTINUATION	$423,750
														Subtotal = $423,750

Issue Date FY: 2018 ( Subtotal = $635,144 )
2018	2018	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	2	5/11/2018	NON-COMPETING CONTINUATION	$423,750
2018	2018	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	001	2	9/12/2018	NON-COMPETING CONTINUATION	$211,394
														Subtotal = $635,144

Issue Date FY: 2017 ( Subtotal = $423,750 )
2017	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Allergy and Infectious Diseases Research	000	1	6/8/2017	NEW	$423,750
														Subtotal = $423,750

Grand Total All Awards = $4,722,779

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Human ISG15 and USP18 Deficiencies Underlying Type I Interferonopathies

Award Number: R01AI127372

ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 04/16/2024

PERIOD OF PERFORMANCE END DATE: 05/31/2027

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