Research & Literature

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, et al.

The New England journal of medicine 2016; (374(11)):1032-1043 doi:10.1056/NEJMoa1512234.

How to use immunoglobulin levels in investigating immune deficiencies.

Ladomenou F, Gaspar B

Archives of disease in childhood. Education and practice edition 2016; (101(3)):129-35 doi:10.1136/archdischild-2015-309060.

Vaccination in Primary Immunodeficiency Disorders.

Sobh A, Bonilla FA

The journal of allergy and clinical immunology. In practice 2016; (4(6)):1066-1075 doi:10.1016/j.jaip.2016.09.012.

Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.

Hoshino A, Okada S, Yoshida K, et al.

The Journal of allergy and clinical immunology 2017; (140(1)):223-231 doi:10.1016/j.jaci.2016.09.029.

When to initiate immunoglobulin replacement therapy (IGRT) in antibody deficiency: a practical approach.

Jolles S, Chapel H, Litzman J

Clinical and experimental immunology 2017; (188(3)):333-341 doi:10.1111/cei.12915.

Reference values for B-cell surface markers and co-receptors associated with primary immune deficiencies in healthy Turkish children.

Azarsiz E, Karaca NE, Aksu G, Kutukculer N

International journal of immunopathology and pharmacology 2017; (30(2)):194-200 doi:10.1177/0394632017707609.

Influenza Vaccination in Patients with Common Variable Immunodeficiency (CVID).

Mieves JF, Wittke K, Freitag H, et al.

Current allergy and asthma reports 2017; (17(11)):78 doi:10.1007/s11882-017-0749-3.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, et al.

The Journal of clinical investigation 2018; (128(7)):3071-3087.

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.

Eskandarian Z, Fliegauf M, Bulashevska A, et al.

Frontiers in immunology 2019; (10()):568 doi:10.3389/fimmu.2019.00568.

Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.

Sriaroon P, Chang Y, Ujhazi B, et al.

Frontiers in pediatrics 2019; (7()):139 doi:10.3389/fped.2019.00139.

Autoimmunity in common variable immunodeficiency.

Agarwal S, Cunningham-Rundles C

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019; (123(5)):454-460 doi:10.1016/j.anai.2019.07.014.

Comprehensive assessment of respiratory complications in patients with common variable immunodeficiency.

Moazzami B, Mohayeji Nasrabadi MA, Abolhassani H, et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020; (124(5)):505-511.e3 doi:10.1016/j.anai.2020.01.019.

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Nunes-Santos CJ, Kuehn HS, Rosenzweig SD

Immunology and allergy clinics of North America 2020; (40(3)):461-470 doi:10.1016/j.iac.2020.04.004.

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

Yilmaz E, Kuehn HS, Odakir E, et al.

Journal of pediatric hematology/oncology 2021; (43(3)):e351-e357 doi:10.1097/MPH.0000000000001976.

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

Kuehn HS, Nunes-Santos CJ, Rosenzweig SD

Expert review of clinical immunology 2021; (17(4)):407-416 doi:10.1080/1744666X.2021.1901582.

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

Kuehn HS, Gloude NJ, Dimmock D, et al.

Journal of clinical immunology 2021; (41(6)):1241-1249 doi:10.1007/s10875-021-01035-1.

There is no gene for CVID - novel monogenetic causes for primary antibody deficiency.

Ramirez NJ, Posadas-Cantera S, Caballero-Oteyza A, et al.

Current opinion in immunology 2021; (72()):176-185 doi:10.1016/j.coi.2021.05.010.

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.

Brodie SA, Khincha PP, Giri N, et al.

Cold Spring Harbor molecular case studies 2021; (7(4)) doi:10.1101/mcs.a006015.

Vaccination in PADs.

Milito C, Soccodato V, Collalti G, et al.

Vaccines 2021; (9(6)) doi:10.3390/vaccines9060626.

Inborn errors of IKAROS and AIOLOS.

Yamashita M, Morio T

Current opinion in immunology 2021; (72()):239-248 doi:10.1016/j.coi.2021.06.010.

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Schiavo E, Martini B, Attardi E, et al.

Frontiers in immunology 2021; (12()):790455 doi:10.3389/fimmu.2021.790455.

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A, Toyofuku E, Mitsuiki N, et al.

Frontiers in immunology 2021; (12()):784901 doi:10.3389/fimmu.2021.784901.

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

Hoshino A, Boutboul D, Zhang Y, et al.

Science immunology 2022; (7(69)):eabi7160 doi:10.1126/sciimmunol.abi7160.

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

Similuk MN, Yan J, Ghosh R, et al.

The Journal of allergy and clinical immunology 2022; (150(4)):947-954 doi:10.1016/j.jaci.2022.06.009.

Long Term Norovirus Infection in a Patient with Severe Common Variable Immunodeficiency.

Ottosson L, Hagbom M, Svernlöv R, et al.

Viruses 2022; (14(8)) doi:10.3390/v14081708.

Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry.

Cabañero-Navalon MD, Garcia-Bustos V, Nuñez-Beltran M, et al.

Frontiers in immunology 2022; (13()):1033666 doi:10.3389/fimmu.2022.1033666.

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels.

Äng C, Zetterström RH, Ramme K, et al.

Frontiers in immunology 2023; (14()):1257581 doi:10.3389/fimmu.2023.1257581.

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

Klangkalya N, Stoddard J, Niemela J, et al.

Clinical immunology (Orlando, Fla.) 2024; (260()):109922 doi:10.1016/j.clim.2024.109922.

The autoimmune rheumatological presentation of Common Variable Immunodeficiency Disorders with an overview of genetic testing.

Ameratunga R, Woon ST, Leung E, et al.

Seminars in arthritis and rheumatism 2024; (65()):152387 doi:10.1016/j.semarthrit.2024.152387.

IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.

García-Solís B, Tapia-Torres M, García-Soidán A, et al.

The Journal of allergy and clinical immunology 2024; (154(3)):819-826 doi:10.1016/j.jaci.2024.03.018.

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

Klangkalya N, Esteve-Sole A, Gil Silva AA, et al.

Clinical immunology (Orlando, Fla.) 2025; (274()):110469 doi:10.1016/j.clim.2025.110469.

JAK inhibitor ameliorates inflammatory bowel disease in a patient with IKZF1 haploinsufficiency.

Inoue S, Ikai M, Nambu R, et al.

Clinical immunology (Orlando, Fla.) 2025; (274()):110470 doi:10.1016/j.clim.2025.110470.

Common variable immunodeficiency.

Solanich X, Antolí A, Alsina L

Medicina clinica 2025; (165(5)):107168 doi:10.1016/j.medcli.2025.107168.

Immunodeficiencies in Adults: Key Considerations for Diagnosis and Management.

Regina J, Doms J, Kampouri E, et al.

Clinical reviews in allergy & immunology 2025; (68(1)):92 doi:10.1007/s12016-025-09103-9.

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.

Spivak I, Magen D, Weiss K, et al.

Pediatric blood & cancer 2025; e32173 doi:10.1002/pbc.32173.

Single-Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency.

Zheng Q, Tan Y, Wang Z, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2026; (78(6)):1231-1244 doi:10.1002/art.70017.

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Bousfiha AA, Jeddane L, Moundir A, et al.

Journal of human immunity 2025; (1(1)):e20250002 doi:10.70962/jhi.20250002.

Diagnostic and therapeutic journey of infantile endobronchial tuberculosis: a case report.

Li Z, Zhang Y, Xu D, Huang B

Frontiers in pediatrics 2026; (14()):1778717 doi:10.3389/fped.2026.1778717.

IKZF-associated inborn errors of immunity.

Yamashita M, Morio T

Journal of human immunity 2025; (1(3)):e20250063 doi:10.70962/jhi.20250063.