Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
Strauss T et al.
Frontiers in Pediatrics, 2024
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Hoshino A et al.
Science Immunology, 2022
Inborn errors of IKAROS and AIOLOS.
Yamashita M et al.
Current Opinion in Immunology, 2021
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS et al.
Blood, 2021
IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.
Dieudonné Y et al.
Journal of Clinical Immunology, 2019
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 et al.
Frontiers in Immunology, 2019
B-cell deficiency caused by IKAROS deficiency in Mowat-Wilson syndrome: A pediatric case report.
Tomomatsu S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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