Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia

• Autoři: SOOMANN Maarja; BÍLY Viktor; ELGIZOULI Magdeldin; KRAEMER Dennis; AKGUL Gulfirde; HORST von Bernuth; BLOOMFIELD Marketa; BRODSZKI Nicholas; CANDOTTI Fabio; FORSTER-WALDL Elisabeth; FREIBERGER Tomáš; GIZEWSKA Maria; KLOCPERK Adam; KOELSCH Uwe; NICHOLS Kim E; KRUEGER Renate; OAK Ninad; PAC Malorzata; PRADER Seraina; SCHMIEGELOW Kjeld; SEDIVA Anna; SOGKAS Georgios; STITTRICH Anna; STOLTZE Ulrik Kristoffer; THEODOROPOULOU Katerina; WADT Karin; WONG Melanie; ZEYDA Maximillian; SCHMID Jana Pachlopnik; TRUCK Johannes
• Rok publikování: 2024
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: Journal of allergy and clinical immunology
• Fakulta / Pracoviště MU: Lékařská fakulta
• www: https://linkinghub.elsevier.com/retrieve/pii/S0091674924008194
• Doi: https://doi.org/10.1016/j.jaci.2024.08.002
• Klíčová slova: Agammaglobulinemia; IGLL1; lamba5; B-cell deficiency; newborn screening; NBS; KREC; kappa-deleting recombination excision circles; predominantly antibody deficiencies; vaccine response
• Popis: Background: Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only 8 documented cases in the literature. Surprisingly, the first agammaglobulinemic patient identified by newborn screening (NBS) through quantification of kappa-deleting recombination excision circles harbored variants in IGLL1.

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