Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia
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SOOMANN, Maarja; Viktor BÍLY ORCID; Magdeldin ELGIZOULI; Dennis KRAEMER; Gulfirde AKGUL; von Bernuth HORST; Marketa BLOOMFIELD; Nicholas BRODSZKI; Fabio CANDOTTI; Elisabeth FORSTER-WALDL; Tomáš FREIBERGER ORCID; Maria GIZEWSKA; Adam KLOCPERK; Uwe KOELSCH; Kim E NICHOLS; Renate KRUEGER; Ninad OAK; Malorzata PAC; Seraina PRADER; Kjeld SCHMIEGELOW; Anna SEDIVA; Georgios SOGKAS; Anna STITTRICH; Ulrik Kristoffer STOLTZE; Katerina THEODOROPOULOU; Karin WADT; Melanie WONG; Maximillian ZEYDA; Jana Pachlopnik SCHMID a Johannes TRUCK
Vydání
Journal of allergy and clinical immunology, New York, Mosby-Elsevier, 2024, 0091-6749
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.
SOOMANN, Maarja; Viktor BÍLY; Magdeldin ELGIZOULI; Dennis KRAEMER; Gulfirde AKGUL; von Bernuth HORST; Marketa BLOOMFIELD; Nicholas BRODSZKI; Fabio CANDOTTI; Elisabeth FORSTER-WALDL; Tomáš FREIBERGER; Maria GIZEWSKA; Adam KLOCPERK; Uwe KOELSCH; Kim E NICHOLS; Renate KRUEGER; Ninad OAK; Malorzata PAC; Seraina PRADER; Kjeld SCHMIEGELOW; Anna SEDIVA; Georgios SOGKAS; Anna STITTRICH; Ulrik Kristoffer STOLTZE; Katerina THEODOROPOULOU; Karin WADT; Melanie WONG; Maximillian ZEYDA; Jana Pachlopnik SCHMID a Johannes TRUCK. Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2024, roč. 154, č. 5, s. 1313-1331. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2024.08.002.
@article{2467606, author = {Soomann, Maarja and Bíly, Viktor and Elgizouli, Magdeldin and Kraemer, Dennis and Akgul, Gulfirde and Horst, von Bernuth and Bloomfield, Marketa and Brodszki, Nicholas and Candotti, Fabio and ForsterandWaldl, Elisabeth and Freiberger, Tomáš and Gizewska, Maria and Klocperk, Adam and Koelsch, Uwe and Nichols, Kim E and Krueger, Renate and Oak, Ninad and Pac, Malorzata and Prader, Seraina and Schmiegelow, Kjeld and Sediva, Anna and Sogkas, Georgios and Stittrich, Anna and Stoltze, Ulrik Kristoffer and Theodoropoulou, Katerina and Wadt, Karin and Wong, Melanie and Zeyda, Maximillian and Schmid, Jana Pachlopnik and Truck, Johannes}, article_location = {New York}, article_number = {5}, doi = {https://doi.org/10.1016/j.jaci.2024.08.002}, keywords = {Agammaglobulinemia; IGLL1; lamba5; B-cell deficiency; newborn screening; NBS; KREC; kappa-deleting recombination excision circles; predominantly antibody deficiencies; vaccine response}, language = {eng}, issn = {0091-6749}, journal = {Journal of allergy and clinical immunology}, title = {Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia}, url = {https://linkinghub.elsevier.com/retrieve/pii/S0091674924008194}, volume = {154}, year = {2024} }
TY - JOUR ID - 2467606 AU - 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 PY - 2024 TI - Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia JF - Journal of allergy and clinical immunology VL - 154 IS - 5 SP - 1313-1331 EP - 1313-1331 PB - Mosby-Elsevier SN - 00916749 KW - Agammaglobulinemia KW - IGLL1 KW - lamba5 KW - B-cell deficiency KW - newborn screening KW - NBS KW - KREC KW - kappa-deleting recombination excision circles KW - predominantly antibody deficiencies KW - vaccine response UR - https://linkinghub.elsevier.com/retrieve/pii/S0091674924008194 N2 - 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. ER -
SOOMANN, Maarja; Viktor BÍLY; Magdeldin ELGIZOULI; Dennis KRAEMER; Gulfirde AKGUL; von Bernuth HORST; Marketa BLOOMFIELD; Nicholas BRODSZKI; Fabio CANDOTTI; Elisabeth FORSTER-WALDL; Tomáš FREIBERGER; Maria GIZEWSKA; Adam KLOCPERK; Uwe KOELSCH; Kim E NICHOLS; Renate KRUEGER; Ninad OAK; Malorzata PAC; Seraina PRADER; Kjeld SCHMIEGELOW; Anna SEDIVA; Georgios SOGKAS; Anna STITTRICH; Ulrik Kristoffer STOLTZE; Katerina THEODOROPOULOU; Karin WADT; Melanie WONG; Maximillian ZEYDA; Jana Pachlopnik SCHMID a Johannes TRUCK. Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. \textit{Journal of allergy and clinical immunology}. New York: Mosby-Elsevier, 2024, roč.~154, č.~5, s.~1313-1331. ISSN~0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2024.08.002.