Alexandra F. Freeman

Also affiliated with Central-Asian Institute for Applied Geosciences, National Institute of Allergy and Infectious Diseases, Immune Deficiency Foundation

Immunology and MicrobiologyBiochemistry, Genetics and Molecular Biology

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 73 papers. Top paper: “Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations”.

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.06.009

N/A

1.3DataRank · unranked

67 citations

Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael Setzer +95 more

Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years

New England Journal of Medicine(2023)10.1056/nejmoa2202348

N/A

1.2DataRank · unranked

39 citations

Ana M. Ortega‐Villa, Harry Mystakelis, Megan Anderson, Allyson Mateja, Elizabeth Laidlaw +11 more

Efficacy of Cochleated Amphotericin B in Mouse and Human Mucocutaneous Candidiasis

Antimicrobial Agents and Chemotherapy(2022)10.1128/aac.00308-22

N/A

1.1DataRank · unranked

24 citations

Amanda Urban, Doris Swaim, Benjamin Colton, Lilian W. Kibathi, Elise M. N. Ferré +10 more

Autocrine vitamin D signaling switches off pro-inflammatory programs of TH1 cells

Nature Immunology(2021)10.1038/s41590-021-01080-3

N/A

0.801DataRank · unranked

207 citations

Tilo Freiwald, Reuben McGregor, Bingyu Yan, Luopin Wang, Estefanía Nova‐Lamperti +24 more

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report

Nature Medicine(2020)10.1038/s41591-019-0733-7

N/A

0.798DataRank · unranked

204 citations

Tetsuro Kobayashi, Benjamin Voisin, Jay‐Hyun Jo, Keiko Sakamoto, Seon‐Pil Jin +14 more

Prevalence and pathogenicity of autoantibodies in patients with idiopathic CD4 lymphopenia

Journal of Clinical Investigation(2020)10.1172/jci136254

N/A

0.706DataRank · unranked

26 citations

Chun-Shu Wong, Xiangdong Liu, Harry Mystakelis, Jian Song, Yong Lu +15 more

Pulmonary Manifestations of GATA2 Deficiency

CHEST Journal(2021)10.1016/j.chest.2021.05.046

N/A

0.584DataRank · unranked

48 citations

Kenneth N. Olivier, Les Folio, Christa S. Zerbe, Amy P. Hsu, Alexandra F. Freeman +9 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0.489DataRank · unranked

25 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

Case Report: Fatal Complications of BK Virus-Hemorrhagic Cystitis and Severe Cytokine Release Syndrome Following BK Virus-Specific T-Cells

Frontiers in Immunology(2021)10.3389/fimmu.2021.801281

N/A

0.457DataRank · unranked

20 citations

Corina Gonzalez, Elliot Levy, Vladimir Valera, Heather J. Chalfin, Jacquelyn Klicka-Skeels +11 more

Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.12.011

N/A

0.434DataRank · unranked

17 citations

Cihan Oguz, Kerry Dobbs, Katherine Myint‐Hpu, Boaz Palterer, Michael S. Abers +51 more

Restoration of the human skin microbiome following immune recovery after hematopoietic stem cell transplantation

Cell Host & Microbe(2025)10.1016/j.chom.2025.07.002

N/A

0.416DataRank · unranked

15 citations

Jungmin Han, Catriona P. Harkins, Peng Hou, Sean Conlan, Clay Deming +25 more

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Frontiers in Immunology(2023)10.3389/fimmu.2023.1172004

N/A

0.413DataRank · unranked

8 citations

Morgan N Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen +31 more

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

JAMA Dermatology(2024)10.1001/jamadermatol.2023.5362

N/A

0.406DataRank · unranked

14 citations

Devin Hunt, Jia Yan, Austin J. Jabbour, Paul Nghiem, Jaehyuk Choi +15 more

Expanded microbiome niches of RAG-deficient patients

Cell Reports Medicine(2023)10.1016/j.xcrm.2023.101205

N/A

0.345DataRank · unranked

9 citations

Zeyang Shen, Sara Saheb Kashaf, Shih-Queen Lee-Lin, Sean Conlan, Jim Thomas +40 more

DOCK8 and STAT3 cooperate to restrain IgE-inducing T follicular helper cells

The Journal of Experimental Medicine(2025)10.1084/jem.20241707

N/A

0.269DataRank · unranked

5 citations

Courtney Fisher, Meng-Ping Lu, Jessica Grassmann, Corinne D. Mack, Roukaya Yaakoubi +20 more

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

Nature Immunology(2021)10.1038/s41590-021-01093-y

N/A

0DataRank · unranked

21 citations

Jill M. Fritz, Hayley M. Raquer-McKay, Rhea Kataria, Ivan Vujkovic-Cvijin, Ahmad Al‐Shaibi +29 more

Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3

PLoS ONE(2021)10.1371/journal.pone.0248011

N/A

0DataRank · unranked

13 citations

Manoj Yadav, Mohammadali E. Alishahedani, Alexandra F. Freeman, Ian A. Myles, Katelyn McCann

An Unusual Pattern of Premature Cervical Spine Degeneration in STAT3-LOF

Journal of Clinical Immunology(2021)10.1007/s10875-020-00926-z

N/A

0DataRank · unranked

11 citations

Amanda Urban, Alexandra F. Freeman, Dima A. Hammoud, Amelia Mitchell

Characterization of autoantibodies, immunophenotype and autoimmune disease in a prospective cohort of patients with idiopathic CD4 lymphocytopenia

Clinical Immunology(2021)10.1016/j.clim.2021.108664

N/A

0DataRank · unranked

8 citations

Afroditi Boulougoura, Virginia Sheikh, Alexandra F. Freeman, Ornella Sortino, James D. Katz +3 more

Immunogenetics associated with severe coccidioidomycosis

JCI Insight(2022)10.1172/jci.insight.159491

N/A

0DataRank · unranked

53 citations

Agnieszka Korzeniowska, Cynthia C. Aguilar, Jingwen Gu, Eric Karlins, Andrew J. Oler +35 more

Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis

Journal of Clinical Investigation(2022)10.1172/jci159348

N/A

0DataRank · unranked

37 citations

Jigar V. Desai, Amy P. Hsu, Vasileios Oikonomou, Donald C. Vinh, Joshua A. Acklin +54 more

HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions

Journal of Clinical Immunology(2022)10.1007/s10875-022-01327-0

N/A

0DataRank · unranked

31 citations

Michael J. Lenardo, Alexandra F. Freeman, Sarah A. Cook

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

Frontiers in Immunology(2022)10.3389/fimmu.2022.965326

N/A

0DataRank · unranked

16 citations

Matias Kinnunen, Sara Posadas‐Cantera, Nadezhda Camacho-Ordóñez, Hassan Abolhassani, Laia Alsina +22 more

Targeted IL-4Rα blockade ameliorates refractory allergic eosinophilic inflammation in a patient with dysregulated TGF-β signaling due to ERBIN deficiency

The Journal of Allergy and Clinical Immunology In Practice(2022)10.1016/j.jaip.2022.01.012

N/A

0DataRank · unranked

15 citations

J. Pablo Abonia, Margaret H. Collins, Joshua D. Milner, Jonathan J. Lyons, Alexandra F. Freeman +5 more

Malignancy in STAT3 Deficient Hyper IgE Syndrome

Journal of Clinical Immunology(2022)10.1007/s10875-021-01197-y

N/A

0DataRank · unranked

8 citations

Christopher Melani, Mark Roschewski, Wyndham H. Wilson, Stefania Pittaluga, Haig Tcheurekdjian +4 more

Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency

Bone Marrow Transplantation(2022)10.1038/s41409-022-01778-4

N/A

0DataRank · unranked

1 citations

Kristen Cole, Sima Zadeh Bedoya, Alexandra F. Freeman, Jennifer Whangbo, Daniele Avila +9 more

Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity

Research Square(2022)10.21203/rs.3.rs-2211010/v1

N/A

0DataRank · unranked

1 citations

Morgan N Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen +30 more

Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis

The Journal of Allergy and Clinical Immunology In Practice(2023)10.1016/j.jaip.2023.03.049

N/A

0DataRank · unranked

12 citations

Alexandra F. Freeman, Thomas A. Fleisher, S. Cindy

Successful Use of Fosmanogepix for Treatment of Rare Highly Resistant Cutaneous Fusariosis in a Pediatric Patient With STAT3 Hyper-Immunoglobulin E Syndrome and End-Stage Kidney Disease

Open Forum Infectious Diseases(2023)10.1093/ofid/ofad285

N/A

0DataRank · unranked

12 citations

Jackson Londeree, Alexandra F. Freeman, Rouba Garro, Roshan George, Kathryn Goggin

Disseminated mycobacterial infections after tumor necrosis factor inhibitor use, revealing inborn errors of immunity

International Journal of Infectious Diseases(2023)10.1016/j.ijid.2023.04.007

N/A

0DataRank · unranked

10 citations

Claudia R. Libertin, H. R. Powers, Jared Nelson, Lisa Brumble, Federico R. Laham +4 more

Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies

Science Advances(2023)10.1126/sciadv.adh3150

N/A

0DataRank · unranked

10 citations

Fausto Andres Bustos Carrillo, Sophie Kelly, Taylor A. Saturday, Maureen DeGrange, Anita Ginigeme +42 more

A multifaceted disease: The stats of STAT3 GOF

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.02.010

N/A

0DataRank · unranked

5 citations

Jenna Bergerson, Alexandra F. Freeman

Early intervention in STAT3 dominant negative disease

The Journal of Allergy and Clinical Immunology In Practice(2023)10.1016/j.jaip.2023.08.044

N/A

0DataRank · unranked

1 citations

Kelli W. Williams, Amanda Urban, Sania Ali, Susan Roy, Christine Lafeer +8 more

Immune response to COVID-19 vaccines in people with immunodeficiencies

Research Square(2023)10.21203/rs.3.rs-2514984/v1

N/A

0DataRank · unranked

2 citations

Mackenzie Zendt, Fausto Bustos Castillo, Sophie Kelly, Taylor A. Saturday, Maureen DeGrange +38 more

A unified metric of human immune health

Nature Medicine(2024)10.1038/s41591-024-03092-6

N/A

0DataRank · unranked

48 citations

Nicholas Rachmaninoff, William W. Lau, Dylan Hirsch, Neha Bansal, Andrew J. Martins +44 more

Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency

New England Journal of Medicine(2024)10.1056/nejmoa2210665

N/A

0DataRank · unranked

29 citations

Anuj Kashyap, Hélène Salvator, Lindsey B. Rosen, Devon H. Colby, Fatemeh Ardeshir‐Larijani +17 more

TH2-driven manifestations of inborn errors of immunity

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.05.007

N/A

0DataRank · unranked

21 citations

Manar Abdalgani, Paneez Khoury, Alexandra F. Freeman, Joshua D. Milner, Alyssa James

Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.08.021

N/A

0DataRank · unranked

9 citations

Corina Gonzalez, Bonnie Yates, Kristen Cole, Lauren Little, Erin Flannelly +18 more

Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series

Case Reports in Gastroenterology(2024)10.1159/000536117

N/A

0DataRank · unranked

5 citations

Bilal Asif, Anjali Rai, Hari S. Conjeevaram, Maria Mironova, David E. Kleiner +3 more

Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis

Journal of Clinical Immunology(2024)10.1007/s10875-024-01760-3

N/A

0DataRank · unranked

3 citations

Diana Nichols‐Vinueza, Lindsey B. Rosen, Peter D. Burbelo, Kevin P. Fennelly, Joseph Pechacek +11 more

Safety but limited efficacy of donor lymphocyte infusion for post-transplantation cyclophosphamide-treated patients

Bone Marrow Transplantation(2024)10.1038/s41409-024-02312-4

N/A

0DataRank · unranked

4 citations

Scott Napier, Dimana Dimitrova, Anita Stokes, Jennifer Wilder, Amy Chai +13 more

Resolving persistent air leaks associated with autosomal dominant hyper-IgE syndrome using one-way endobronchial valves: report of cases

AME Case Reports(2024)10.21037/acr-23-35

N/A

0DataRank · unranked

3 citations

Munir Buhaya, Nicole Nix Sartain, Kenneth N. Olivier, Alexandra F. Freeman, Chuong D. Hoang +1 more

Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils

Life Science Alliance(2024)10.26508/lsa.202402618

N/A

0DataRank · unranked

1 citations

Alexandra F. Freeman, Alexander R. Mukhitov, Andrew J. Paris, Susan Lin, Ryan W. Rue +7 more

RETRACTED: Safety but Limited Efficacy of Donor Lymphocyte Infusion for Post-Transplantation Cyclophosphamide-Treated Patients

Research Square(2024)10.21203/rs.3.rs-3835885/v1

N/A

0DataRank · unranked

0 citations

Krithika Shanmugasundaram, Scott Napier, Dimana Dimitrova, Anita Stokes, Jennifer Wilder +13 more

Infections in Inborn Errors of STATs

Pathogens(2024)10.3390/pathogens13110955

N/A

0DataRank · unranked

0 citations

Alexandra F. Freeman, Chen Wang

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Science Immunology(2025)10.1126/sciimmunol.adq1697

N/A

0DataRank · unranked

16 citations

Kerry Dobbs, Ottavia M. Delmonte, Andrew J. Martins, Francesca Pala, Tomoki Kawai +95 more

Clinical significance and antifungal susceptibility profile of 103 clinical isolates of Scedosporium species complex and Lomentospora prolificans obtained from NIH patients

Journal of Clinical Microbiology(2025)10.1128/jcm.01550-24

N/A

0DataRank · unranked

15 citations

Jennifer Cuellar‐Rodríguez, June Kwon-Chung, Frida Stock, Chioma Inyang Aneke, Kenneth N. Olivier +8 more

Allergic Fungal Rhinosinusitis Diagnosis, Management, Associated Conditions, Pathophysiology, and Future Directions: Summary of a Multidisciplinary Workshop

International Forum of Allergy & Rhinology(2025)10.1002/alr.23582

N/A

0DataRank · unranked

8 citations

Cecelia Damask, Amber Luong, Antoine Azar, Charles S. Ebert, Thomas S. Edwards +22 more

Allogeneic hematopoietic stem cell transplantation for STAT3 hyper-IgE syndrome: a worldwide study

Blood Advances(2025)10.1182/bloodadvances.2025016158

N/A

0DataRank · unranked

7 citations

Johannes Raedler, Joanna Renke, Michael Medinger, Alexandra Laberko, Ásgeir Haraldsson +36 more

STAT3-Dependent Regulation of CFTR and Ciliogenesis Is Essential for Mucociliary Clearance and Innate Airway Defense in Hyper-IgE Syndrome

American Journal of Respiratory and Critical Care Medicine(2025)10.1164/rccm.202407-1415oc

N/A

0DataRank · unranked

4 citations

Samantha A. Walls, Hong Dang, Nancy L. Quinney, Patrick R Sears, Taraneh Sadritabrizi +35 more

Interferon-γ Therapy in Patients With Refractory Disseminated Coccidioidomycosis

Clinical Infectious Diseases(2025)10.1093/cid/ciaf286

N/A

0DataRank · unranked

4 citations

Brenna LaBere, Michell Lozano Chinga, Annalie J Harris, Lindsey B Rosen, Amanda Elias Rivera +24 more

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency

The Journal of Experimental Medicine(2025)10.1084/jem.20241993

N/A

0DataRank · unranked

3 citations

Francesca Pala, Poorani Subramanian, Cihan Oguz, Benjamin Schwarz, Ai Ing Lim +46 more

How I Treat: Infections and inborn errors of immunity—Prevention, diagnosis, and treatment

Journal of Human Immunity(2025)10.70962/jhi.20250137

N/A

0DataRank · unranked

2 citations

Beth K Thielen, Tamara C. Pozos, Alexandra F. Freeman

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

Skin imaging mass spectrometry of controls versus atopic dermatitis patients with and without STAT3 mutations

iScience(2025)10.1016/j.isci.2025.112644

N/A

0DataRank · unranked

2 citations

Grace Ratley, Brandon N. D’Souza, Ashleigh A. Sun, Portia Gough, Prem Prashant Chaudhary +6 more

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency

Journal of Human Immunity(2025)10.70962/jhi.20250176

N/A

0DataRank · unranked

1 citations

Meera Patel, Amanda Urban, Celeste Nelson, Thomas DiMaggio, Theo Heller +15 more

Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival

Transplantation(2025)10.1097/tp.0000000000005504

N/A

0DataRank · unranked

1 citations

Sarah A. Bannon, Jia Yan, Rajarshi Ghosh, Ekaterina Damskey, Breanna Beers +41 more

Obesity and hepatic steatosis in STAT3 hyper-IgE syndrome

The Journal of Allergy and Clinical Immunology In Practice(2025)10.1016/j.jaip.2025.10.037

N/A

0DataRank · unranked

1 citations

Chen Wang, Amanda Urban, Iris Martin, Jean Ulrick, Susan Roy +11 more

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

Clinical Infectious Diseases(2025)10.1093/cid/ciaf637

N/A

0DataRank · unranked

0 citations

Beatriz E. Marciano, Annalie J Harris, Alicia Johnston, Evşen Apaydın Arıkan, Diana K. Bayer +23 more

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of Experimental Medicine(2020)10.1084/jem.20191804

N/A

0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 more

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia

Blood Advances(2020)10.1182/bloodadvances.2020001730

N/A

0DataRank · unranked

100 citations

Francesca Pala, Enrica Calzoni, Ottavia M. Delmonte, Kerry Dobbs, Cameron L. Gardner +20 more

Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome

Frontiers in Pediatrics(2020)10.3389/fped.2020.00575

N/A

0DataRank · unranked

13 citations

James H. Clark, Joel Mock, Mario Abinun, Emily Carne, Tariq El‐Shanawany +6 more

Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency

The Journal of Allergy and Clinical Immunology In Practice(2020)10.1016/j.jaip.2020.06.021

N/A

0DataRank · unranked

12 citations

Disha Sharma, Min Cho, Nirali N. Shah, Dennis D. Hickstein, Amanda Urban +12 more

Migration-induced cell shattering due to DOCK8 deficiency causes a type 2–biased helper T cell response

Nature Immunology(2020)10.1038/s41590-020-0795-1

N/A

0DataRank · unranked

35 citations

Connie Shen, Angelica A. Gopal, Todd Douglas, Benjamin Forestell, Keith D. Kauffman +12 more

Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome

Journal of Allergy and Clinical Immunology(2020)10.1016/j.jaci.2020.07.024

N/A

0DataRank · unranked

27 citations

Shuichiro Nakabo, Brian Dizon, Amanda Urban, Meryl Waldman, Lillian Howard +8 more

Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome

Journal of Clinical Investigation(2020)10.1172/jci135490

N/A

0DataRank · unranked

26 citations

Avram Walts, Dai Phuong Nguyen, Alex Grubb, Xue Zhang, Xujing Wang +22 more

Spontaneous Gastrointestinal Perforations in STAT3-Deficient Hyper-IgE Syndrome

Journal of Clinical Immunology(2020)10.1007/s10875-020-00836-0

N/A

0DataRank · unranked

7 citations

Hastings Williamson, Amanda Urban, Theo Heller, Alexandra F. Freeman, Sumona Bhattacharya

Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency

Virulence(2020)10.1080/21505594.2020.1848108

N/A

0DataRank · unranked

5 citations

Shamira J. Shallom, Kriti Arora, Helena I. Boshoff, Alexandra F. Freeman, Alejandra King +13 more

An autocrine Vitamin D-driven Th1 shutdown program can be exploited for COVID-19

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.18.210161

N/A

0DataRank · unranked

33 citations

Daniel Chauss, Tilo Freiwald, Bingyu Yan, Luopin Wang, Estefanía Nova‐Lamperti +20 more

Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.08.016

N/A

0DataRank · unranked

94 citations

Jenna Bergerson, Peter D. Burbelo, Jessica Durkee-Shock, Kerry Dobbs, Marita Bosticardo +23 more

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

The Journal of Experimental Medicine(2021)10.1084/jem.20210566

N/A

0DataRank · unranked

58 citations

Wei‐Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu +36 more

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

Blood(2021)10.1182/blood.2020008629

N/A

0DataRank · unranked

56 citations

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

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 more