Hye Sun Kuehn

Also affiliated with National Institutes of Health, National Institutes of Health Clinical Center

Immunology and MicrobiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 36 papers. Top paper: “Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation”.

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation

Journal of Clinical Immunology(2021)10.1007/s10875-021-01035-1

N/A

0.505DataRank · unranked

8 citations

Nicholas J. Gloude, David Dimmock, Mari Tokita, Meredith S. Wright, Sergio D. Rosenzweig +2 more

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

UNC Libraries(2020)10.17615/g610-9d13

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0DataRank · unranked

47 citations

Qing Zhou, Deborah L. Stone, Geryl Wood, James C. Mullikin, Nicholas J. Patronas +27 more

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

Journal of Clinical Immunology(2020)10.1007/s10875-020-00903-6

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0DataRank · unranked

20 citations

Ottavia M. Delmonte, Vanessa Bundy, Marita Bosticardo, Michael T. Zimmermann, Nikita R. Dsouza +12 more

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Journal of Clinical Immunology(2020)10.1007/s10875-020-00842-2

N/A

0DataRank · unranked

17 citations

Andrea Bernasconi, Julie E. Niemela, María Belén Almejún, William Alexander Franco Gallego, Shubham Goel +12 more

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS

Journal of Pediatric Hematology/Oncology(2020)10.1097/mph.0000000000001976

N/A

0DataRank · unranked

11 citations

Hye Sun Kuehn, Eda Odakir, Julie E. Niemela, Alper Özcan, Ahmet Eken +11 more

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

Journal of Clinical Immunology(2020)10.1007/s10875-020-00905-4

N/A

0DataRank · unranked

28 citations

Hye Sun Kuehn, Sergio D. Rosenzweig, Cristiane N. Santos

IKAROS Family Zinc Finger 1–Associated Diseases in Primary Immunodeficiency Patients

Immunology and Allergy Clinics of North America(2020)10.1016/j.iac.2020.04.004

N/A

0DataRank · unranked

27 citations

Hye Sun Kuehn, Sergio D. Rosenzweig, Cristiane N. Santos

Progressive B Cell Loss in Revertant X-SCID

Journal of Clinical Immunology(2020)10.1007/s10875-020-00825-3

N/A

0DataRank · unranked

6 citations

Hye Sun Kuehn, Timothy J. Thauland, Christine Lee, Suk See De Ravin, Harry L. Malech +7 more

Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization

The Journal of Allergy and Clinical Immunology In Practice(2020)10.1016/j.jaip.2020.10.062

N/A

0DataRank · unranked

1 citations

Hye Sun Kuehn, Jennifer Stoddard, Julie E. Niemela, Guangping Sun, Michael D. Keller +3 more

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

University of Birmingham Research Portal (University of Birmingham)(2020)10.17615/k70n-9b55

N/A

0DataRank · unranked

0 citations

Sandip K. Datta, Prashant Chittiboina, Hatice Karaüzüm, Danielle Fink, Sergio D. Rosenzweig +21 more

SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Blood(2021)10.1182/blood.2020008629

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0DataRank · unranked

56 citations

Jenna Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese +30 more

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

The Journal of Experimental Medicine(2021)10.1084/jem.20211118

N/A

0DataRank · unranked

46 citations

Jingjie Chang, Motoi Yamashita, Julie E. Niemela, Chengcheng Zou, Kazuki Okuyama +13 more

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology

Expert Review of Clinical Immunology(2021)10.1080/1744666x.2021.1901582

N/A

0DataRank · unranked

29 citations

Cristiane N. Santos, Sergio D. Rosenzweig, Hye Sun Kuehn

Ikaros-Associated Diseases: From Mice to Humans and Back Again

Frontiers in Pediatrics(2021)10.3389/fped.2021.705497

N/A

0DataRank · unranked

26 citations

Cristiane N. Santos, Hye Sun Kuehn, Sergio D. Rosenzweig, Brigette Boast

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

Journal of Clinical Immunology(2021)10.1007/s10875-021-01173-6

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0DataRank · unranked

16 citations

Hye Sun Kuehn, Javier Chinen, Julie E. Niemela, Jennifer Stoddard, Daisuke Yamanaka +9 more

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.05.031

N/A

0DataRank · unranked

10 citations

Christina Tatsi, Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Yan Su +9 more

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency

Clinical & Experimental Immunology(2022)10.1093/cei/uxac109

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0DataRank · unranked

59 citations

Brigette Boast, Sergio D. Rosenzweig, Hye Sun Kuehn

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenicRELAvariant

Lara D. Veeken(2022)10.1093/rheumatology/keac227

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0DataRank · unranked

25 citations

Daniel C. Koboldt, Hye Sun Kuehn, Vijayakumar Jayaraman, Kristy Lee, Theresa Mihalic Mosher +11 more

A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation

Journal of Clinical Immunology(2022)10.1007/s10875-022-01395-2

N/A

0DataRank · unranked

14 citations

Hye Sun Kuehn, Tomoki Kawai, Nouf Alsaati, Lauren L. Smith, Blachy J. Dávila Saldaña +8 more

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

Science Immunology(2023)10.1126/sciimmunol.ade7953

N/A

0DataRank · unranked

42 citations

Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleußner +95 more

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Nature Communications(2023)10.1038/s41467-023-36941-y

N/A

0DataRank · unranked

37 citations

Guibin Chen, Dan Yang, Tomáš Brdička, Natasha M. Ruth, David A. Bennin +49 more

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains

Journal of Clinical Investigation(2023)10.1172/jci172573

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0DataRank · unranked

17 citations

Inga Sakovich, Julie E. Niemela, Agustin A. Gil Silva, Jennifer Stoddard, Ekaterina Polyakova +15 more

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Nature Communications(2023)10.1038/s41467-023-39272-0

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0DataRank · unranked

20 citations

Hye Sun Kuehn, Brigette Boast, SuJin Hwang, Douglas B. Kuhns, Jennifer Stoddard +23 more

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.05.017

N/A

0DataRank · unranked

17 citations

Shubham Goel, Luis Ignacio González‐Granado, Julie E. Niemela, Jennifer Stoddard, Emily S.J. Edwards +18 more

Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway

HAL (Le Centre pour la Communication Scientifique Directe)(2023)10.22541/au.167330741.18394805/v1

N/A

0DataRank · unranked

2 citations

Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai +95 more

The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1

New England Journal of Medicine(2024)10.1056/nejmoa2312665

N/A

0DataRank · unranked

79 citations

Grace Smith, Gregory Constantine, Monica M Schmitt, Elise M. N. Ferré, Julie C Alejo +61 more

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Nature Immunology(2024)10.1038/s41590-024-01817-w

N/A

0DataRank · unranked

34 citations

Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya +57 more

IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes

Clinical Immunology(2024)10.1016/j.clim.2024.109922

N/A

0DataRank · unranked

10 citations

Jennifer Stoddard, Julie E. Niemela, Jennifer Sponaugle, Irl Brian Greenwell, Erin L. Reigh +5 more

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.12.1082

N/A

0DataRank · unranked

8 citations

Marita Bosticardo, Antonio Arrieta, Jennifer Stoddard, Francesca Pala, Julie E. Niemela +11 more

IKAROS—how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency

Frontiers in Pediatrics(2024)10.3389/fped.2024.1345730

N/A

0DataRank · unranked

5 citations

Julia Körholz, Hye Sun Kuehn, Agustin A. Gil Silva, Franziska Taube, Karolin Trautmann‐Grill +10 more

Resolution of Squamous-Cell Carcinoma by Restoring T-Cell Receptor Signaling

New England Journal of Medicine(2025)10.1056/nejmoa2502114

N/A

0DataRank · unranked

10 citations

Jenna Bergerson, Isaac Brownell, Gabriel J. Starrett, Roshini S. Abraham, Megan Anderson +13 more

IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain

Clinical Immunology(2025)10.1016/j.clim.2025.110469

N/A

0DataRank · unranked

5 citations

Ana Esteve‐Solé, Agustin A. Gil Silva, Jennifer Stoddard, Julie E. Niemela, Seraina Prader +9 more

Infection‐Associated Immune Reconstitution Inflammatory Syndrome in Hematopoietic Cell Transplantation

Transplant Infectious Disease(2025)10.1111/tid.70000

N/A

0DataRank · unranked

4 citations

Brian Epling, Luxin Pei, Brigit Sullivan, Hye Sun Kuehn, Dima A. Hammoud +8 more

IKAROS regulates human T cell phenotype at a thymic and postthymic level

JCI Insight(2025)10.1172/jci.insight.197359

N/A

0DataRank · unranked

1 citations

Hye Sun Kuehn, Ravichandra Tagirasa, Marita Bosticardo, Francesca Pala, Julie E. Niemela +15 more

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Blood(2020)10.1182/blood.2020007292

N/A

0DataRank · unranked

56 citations

Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel +18 more

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

Blood Advances(2025)10.1182/bloodadvances.2025017243

N/A

0DataRank · unranked

0 citations

Agustin A. Gil Silva, Natchanun Klangkalya, Ana Esteve‐Solé, Shubham Goel, Julie E. Niemela +48 more