Alice Valagussa

PhD in Hematology, Université Paris Cité

[Alice Valagussa @ValagussaAlice]

Proud to see our work published in the @jhumimmunity!
I’m very grateful to Nidia Moreno and Sven Kracker for including me in this study on new WDR75 variants identified in a patient with B cell #immunodeficiency and #autism, where I am the second author
🔗https://t.co/foGvvc19i7

[Journal of Human Immunity @jhumimmunity]

Moreno-Corona, Kracker et al. describe WDR75 variants in a patient with B cell immunodeficiency and #autism. Their findings suggest that altered #ribosome biogenesis may contribute to this rare presentation. https://t.co/c7dcgcXA7j

#RareDisease @institutimagine @ValagussaAlice

[Journal of Human Immunity @jhumimmunity]

New study from @ValagussaAlice, Kracker et al. @Inserm identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. https://t.co/5K0yoDYFZr

[Casanova Lab @casanova_lab]

A heterozygous USB1 variant linked to immunodeficiency https://t.co/HWm4mvrZUJ

[Alice Valagussa @ValagussaAlice]

Check out our latest publication 🧬

https://t.co/wUvC8kJ3y9

[Journal of Human Immunity @jhumimmunity]

New study from @ValagussaAlice, Kracker et al. @Inserm identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. https://t.co/5K0yoDYFZr

[Alice Valagussa @ValagussaAlice]

4/ A huge thank you to my thesis supervisor Dr. Sven Kracker, all my colleagues at #InstitutImagine , and Dr. Monica Beltrame (@LaStatale) for their incredible support throughout this research journey!

[Alice Valagussa @ValagussaAlice]

🚨 𝐍𝐨𝐯𝐞𝐥 𝐡𝐞𝐭𝐞𝐫𝐨𝐳𝐲𝐠𝐨𝐮𝐬 𝐔𝐒����𝟏 𝐯𝐚𝐫𝐢𝐚𝐧𝐭 𝐥𝐢𝐧𝐤𝐞𝐝 𝐭𝐨 𝐢𝐦𝐦𝐮𝐧𝐨𝐝𝐞𝐟𝐢𝐜𝐢𝐞𝐧𝐜𝐲!

Finally out, my PhD work now in press @jhumimmunity @RockUPress
https://t.co/yOPH4OctaZ
1/🧵

[Alice Valagussa @ValagussaAlice]

3/ Until now, only mutations affecting the catalytic activity of USB1 had been described.
Our study reveals that disturbed USB1 function can arise independently of its catalytic activity due to a #heterozygous variant (p.P44L) affecting the N-terminal proline-rich domain of USB1.

[Journal of Human Immunity @jhumimmunity]

New study from Valagussa, Kracker et al. @Inserm identifies and characterizes a novel heterozygous USB1 variant (p.P44L) in a patient with #hypogammaglobulinemia and low #neutrophil counts, showing altered protein localization and function. https://t.co/TZ8YbOs4wF