Top Tweets for #pathogenicvariant

3 months ago

A rare RIPK1‑related immunodeficiency case 🧬 A new #casereport describes a novel #RIPK1 #PathogenicVariant causing a unique combination of #immunodeficiency, #autoimmunity, and #inflammation. ✔️ Recurrent respiratory infections since infancy ✔️ Hypogammaglobulinemia + lymphopenia ✔️ Adult-onset autoimmune #cytopenia and lymphoid #hyperplasia ✔️ Functional studies revealed altered #cytokine responses and a distinctive inflammatory pattern 🔍 This case underscores the critical importance of #EarlyGeneticDiagnosis in children with atypical immune presentations — enabling timely, targeted treatment and preventing decades of #morbidity. Know more, here: 🔗 https://t.co/v3jY8jnHAv . #pai_journal #originalarticle #respiratoryinfections #Hypogammaglobulinemia #lymphopenia #autoimmunecytopenia #lymphoidhyperplasia #cytokineresponses #distinctiveinflammatorypattern #atypicalimmunepresentations #RIPK1relatedimmunodeficiency #therapeuticpattern

pai_eaaci's tweet photo. A rare RIPK1‑related immunodeficiency case 🧬

A new #casereport describes a novel #RIPK1 #PathogenicVariant causing a unique combination of #immunodeficiency, #autoimmunity, and #inflammation.
✔️ Recurrent respiratory infections since infancy
✔️ Hypogammaglobulinemia + lymphopenia
✔️ Adult-onset autoimmune #cytopenia and lymphoid #hyperplasia
✔️ Functional studies revealed altered #cytokine responses and a distinctive inflammatory pattern

🔍 This case underscores the critical importance of #EarlyGeneticDiagnosis in children with atypical immune presentations — enabling timely, targeted treatment and preventing decades of #morbidity.

Know more, here: 🔗 https://t.co/v3jY8jnHAv
.
#pai_journal #originalarticle #respiratoryinfections #Hypogammaglobulinemia #lymphopenia #autoimmunecytopenia #lymphoidhyperplasia #cytokineresponses #distinctiveinflammatorypattern #atypicalimmunepresentations #RIPK1relatedimmunodeficiency #therapeuticpattern

135

Annals of Surgical Oncology @AnnSurgOncol

about 2 years ago

May Issue: Upgrade Rates and #BreastCancer Development Among Germline #PathogenicVariant Carriers with High-Risk #BreastLesions @MPilewskie @TariKingMD @sofiamerajver https://t.co/ZLf7AXG8Nj @shadyx2520 @drsergioaguilar @SyedAAhmad5

Ellie Proussaloglou, MD (she/her) @ellieprouss

over 2 years ago

Congrats @JenniferPlichta Ashley Stuckey @ASBrS and all of the presenters at the #asbrs24 #highrisk pre-conference! Some highlights:💡 #HRT is safe & effective after #RRBSO for #pathogenicvariant carriers #AI #chatbots may be an effective way to ⬆️access to #geneticcounseling

ellieprouss's tweet photo. Congrats @JenniferPlichta Ashley Stuckey @ASBrS and all of the presenters at the #asbrs24 #highrisk pre-conference!
Some highlights:💡
#HRT is safe & effective after #RRBSO for #pathogenicvariant carriers
#AI #chatbots may be an effective way to ⬆️access to #geneticcounseling https://t.co/PmoC9Llzvq

662

Arcensus @arcensus

over 4 years ago

Cancer has claimed the lives of #AngelinaJolie's mother and aunt. She was also diagnosed with a #pathogenicvariant in the #BRCA1 gene. Genetic Testing has enabled her to identify the predispositions in her #DNA that empowered her to make informed decisions about her health.

arcensus's tweet photo. Cancer has claimed the lives of #AngelinaJolie's mother and aunt. She was also diagnosed with a #pathogenicvariant in the #BRCA1 gene.
Genetic Testing has enabled her to identify the predispositions in her #DNA that empowered her to make informed decisions about her health. https://t.co/EMYyzgMVoL

Inherited Cancer Registry (ICARE) @inheritedcancer

about 5 years ago

For more information, read the @NEJM article at 👇 https://t.co/7ktoJCccmg #ICARE #InheritedCancerRegistry #inheritedcancer #breastcancer #genetictesting #pathogenicvariant #cancerrisks #cancerresearch #BRCA #BRCA1 #BRCA2 #PALB2 #ATM #CHEK2 #CDH1 #BARD1 #RAD51C #RAD51D

Top Tweets for #pathogenicvariant

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