Francesco Saettini

Pediatric immunologist and hematologist, Monza, Italy.

[Stuart Tangye @stutangye]

The field of inborn errors of immunity moves quickly. The IUIS IEI committee has published 26 new genes that cause monogenic immune dysregulation. Check it our here 👇

https://t.co/jDfkccyx3y

[Francesco Saettini @Saettini_F]

The Italian cohort of #APDS patients. What a great team and amazing result! #PID #IEI #immunodeficiency https://t.co/8BxnnlDNgl

[Francesco Saettini @Saettini_F]

Should we stop looking for #autoimmune diseases in childhood #ITP? We found only #PID to be higher than expected #SLE #coeliacdisease #thyroid https://t.co/NCYQbgirHx

[Francesco Saettini @Saettini_F]

It’s been amazing working with some talented colleagues describing this novel syndromic agammaglobulinemia #FNIP1 #agammaglobulinemia #Blood #PID #IEI #immunodeficiency #neutropenia @cecipolih https://t.co/ApxcIRlbFG

[Francesco Saettini @Saettini_F]

Happy to share this work: A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
#perforin
#HLH
#PID
#RareDisease
https://t.co/NJuDhCkXBO

[Francesco Saettini @Saettini_F]

When you face something unusual in patients with #Raredisease and #PID the espansion of the phenotype It's tempting but sometimes it's not the answer.
Here we describe one patient with #ALPS and Becker muscolar dystrophy #BMD https://t.co/qi604TjWAv

[Francesco Saettini @Saettini_F]

@dada2foundation Thank you @dada2foundation . Hope this will help clinicians to consider #dada2 and #PID when evaluating patients with predominant hematological presentation

[Francesco Saettini @Saettini_F]

Very happy to share this paper where we present one novel #ADA2 variant and we describe #tcell perturbations and activated #S6

#dada2
#immunodeficiency
https://t.co/TTucsNlR0U

[Francesco Saettini @Saettini_F]

@cecipolih @jordanorange @NIAIDNews @bcmhouston Great job @cecipolih ! Congratulations

[Francesco Saettini @Saettini_F]

#dada2 is a fascinating #immunodeficiemcy, as the #phenotype is so protean.
#Genotype-phenotype correlation will be of great help in clinical practice https://t.co/KrrvUHNote

[Francesco Saettini @Saettini_F]

Everything You Always Wanted to Know About bone marrow aspirate and biopsy* (*But Were Afraid to Ask) https://t.co/bmabrr3aS0

[Francesco Saettini @Saettini_F]

@AJ_Brenes @mjwsim @uniprot @ProteinAtlas Have you look at it in patients with T cell lymphopenia or neutropenia?

[Francesco Saettini @Saettini_F]

Anyone working on novel heterozygous TET2 variants? Mild PID phenotype and cancer predisposition, maybe the phenotype can be expanded..
https://t.co/o5WdGjdp1A

[Francesco Saettini @Saettini_F]

Can't wait to try it!

[Yuval Itan @ItanLab]

New gene-level MSC cutoffs for CADD v1.6 are available at: https://t.co/zOdaoNLZXC
A safe way to filter out benign/neutral variants. Recommended to use the 95% CI for case-control cohort studies and 99% CI for individual patients.
https://t.co/R1BDe8b3cU

[Francesco Saettini @Saettini_F]

@DokRenal Thank you but it was a team effort!

[Francesco Saettini @Saettini_F]

Collecting a large cohort of patients with #RareDisease it's never easy. Here we describe #immunology defects in 97 patients with #rubinsteintaybi syndrome. Time to consider #RSTS a syndromic #PID?
@DokRenal
@DodiMarzollo https://t.co/IrH9pSZeEZ

[Francesco Saettini @Saettini_F]

Amazing how synonymous variants are responsible for GATA2 deficiency.
https://t.co/MstAX8LiBK

[AIP O.d.V. @aiponlus]

In questi mesi di emergenza sanitaria è nato il progetto Aip Live@Home, un ciclo di incontri online, abbiamo affrontato diversi argomenti con diversi ospiti. 👉🏻 https://t.co/Y8ZiBK5VPd
Torneremo a Settembre, hai un argomento da proporre? Scrivi a [email protected]

[Danielle Belardo, MD @DBelardoMD]

A newly graduated MD just asked me what my #1 piece of advice is for starting intern year tomorrow. And 6 years in a row of my medical training this advice never changed.

Listen to the nurses.

[BSH - Haematology @BritSocHaem]

US researchers have revealed a potential new treatment combination for the rare immune disorder haemophagocytic lymphohistiocytosis (HLH). https://t.co/BSpJ8JVqxN