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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
Autoři | |
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Rok publikování | 2024 |
Druh | Článek v odborném periodiku |
Časopis / Zdroj | Journal of allergy and clinical immunology |
Fakulta / Pracoviště MU | |
Citace | |
www | https://linkinghub.elsevier.com/retrieve/pii/S0091674924008194 |
Doi | http://dx.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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