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

doi:10.1016/j.jaci.2024.08.002

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Article

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

The Journal of allergy and clinical immunology - 1 Nov 2024

Soomann Maarja, Bily Viktor, Elgizouli Magdeldin, Kraemer Dennis, Akgül Gülfirde, von Bernuth Horst, Bloomfield Markéta, Brodszki Nicholas, Candotti Fabio, Förster-Waldl Elisabeth, Freiberger Tomas, Giżewska Maria, Klocperk Adam, Kölsch Uwe, Nichols Kim E, Krüger Renate, Oak Ninad, Pac Małgorzata, Prader Seraina, Schmiegelow Kjeld, Šedivá Anna, Sogkas Georgios, Stittrich Anna, Stoltze Ulrik Kristoffer, Theodoropoulou Katerina, Wadt Karin, Wong Melanie, Zeyda Maximillian, Pachlopnik Schmid Jana, Trück Johannes

Abstract excerpt

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. OBJECTIVE: We comprehensively...

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PMID: 39147326
DOI: 10.1016/j.jaci.2024.08.002

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