Associated Papers
Two case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine.
Boyarchuk O et al.
Frontiers in Pediatrics, 2025
Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.
Boyarchuk O et al.
Frontiers in Immunology, 2025
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M et al.
The Journal of Allergy and Clinical Immunology, 2024
Single Mutation Different Clinical Findings: IGLL1 Defect.
Naiboğlu S et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage3.2.1-Class3_Frameshift
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
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