We think (rightly) of myeloid malignancy in IBMFS/CPS, but as Dr. Yael Kusne of @mayocliniccancer.bsky.social shows, DDX41 can be associated with lymphoid malignancies, too. Complicated by subsequent MN later in life. Great work characterizing the spectrum of DDX41 cancers. #ASH24 #HemeSky
December 9, 2024 at 12:49 AM
We think (rightly) of myeloid malignancy in IBMFS/CPS, but as Dr. Yael Kusne of @mayocliniccancer.bsky.social shows, DDX41 can be associated with lymphoid malignancies, too. Complicated by subsequent MN later in life. Great work characterizing the spectrum of DDX41 cancers. #ASH24 #HemeSky
Very nice talk from Yael Kusne from Mayo Clinic on the the increased incidence of lymphoid and solid malignancies in patients with #DDX41 #IBMFS #BMFsm #ASH24 @ash-hematology.bsky.social
December 8, 2024 at 6:14 PM
Very nice talk from Yael Kusne from Mayo Clinic on the the increased incidence of lymphoid and solid malignancies in patients with #DDX41 #IBMFS #BMFsm #ASH24 @ash-hematology.bsky.social
This slide by Felicia Andersen of @bostonchildrens.bsky.social is so important, specifically the little red box.
ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24
ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24
December 8, 2024 at 9:15 PM
This slide by Felicia Andersen of @bostonchildrens.bsky.social is so important, specifically the little red box.
ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24
ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24
🩸🧬 Facts about Inherited Bone Marrow Failure Syndromes: how disruptions in core cellular pathways lead to marrow failure, cancer predisposition, and multi-system disease.
#IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #Hematology #MedEd #RareDiseases #BloodDisorders #HemeHub
#IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #Hematology #MedEd #RareDiseases #BloodDisorders #HemeHub
January 2, 2026 at 10:51 PM
🩸🧬 Facts about Inherited Bone Marrow Failure Syndromes: how disruptions in core cellular pathways lead to marrow failure, cancer predisposition, and multi-system disease.
#IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #Hematology #MedEd #RareDiseases #BloodDisorders #HemeHub
#IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #Hematology #MedEd #RareDiseases #BloodDisorders #HemeHub
When do you pull the trigger on transplant in IBMFS/CPS?
As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky
As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky
December 8, 2024 at 9:49 PM
When do you pull the trigger on transplant in IBMFS/CPS?
As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky
As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky
Love is all around…and so are variants.
Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky
Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky
December 8, 2024 at 8:32 PM
Love is all around…and so are variants.
Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky
Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky
🩸Today's question! See the answer and explanation on the next slide.
#TERC #TelomereDisorders #IBMFS #BoneMarrowFailure #PulmonaryFibrosis #Hematology #RareDiseases #HEMEHUB
#TERC #TelomereDisorders #IBMFS #BoneMarrowFailure #PulmonaryFibrosis #Hematology #RareDiseases #HEMEHUB
January 24, 2026 at 10:22 PM
🩸Today's question! See the answer and explanation on the next slide.
#TERC #TelomereDisorders #IBMFS #BoneMarrowFailure #PulmonaryFibrosis #Hematology #RareDiseases #HEMEHUB
#TERC #TelomereDisorders #IBMFS #BoneMarrowFailure #PulmonaryFibrosis #Hematology #RareDiseases #HEMEHUB
🩸 Additional facts on diagnostic nuances and clinical presentation in Inherited Bone Marrow Failure Syndromes
#Hematology #BoneMarrowFailure #IBMFS #InheritedDisorders #RareHematology #MedEd #ClinicalUpdates #HemeHub
#Hematology #BoneMarrowFailure #IBMFS #InheritedDisorders #RareHematology #MedEd #ClinicalUpdates #HemeHub
January 14, 2026 at 12:29 AM
🩸 Additional facts on diagnostic nuances and clinical presentation in Inherited Bone Marrow Failure Syndromes
#Hematology #BoneMarrowFailure #IBMFS #InheritedDisorders #RareHematology #MedEd #ClinicalUpdates #HemeHub
#Hematology #BoneMarrowFailure #IBMFS #InheritedDisorders #RareHematology #MedEd #ClinicalUpdates #HemeHub
🩸 Additional insights on long-term complications and surveillance in Inherited Bone Marrow Failure Syndromes
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #AvascularNecrosis #GVHD #SquamousCellCarcinoma #Hematology #RareDiseases #HEMEHUB
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #AvascularNecrosis #GVHD #SquamousCellCarcinoma #Hematology #RareDiseases #HEMEHUB
January 24, 2026 at 10:22 PM
🩸 Additional insights on long-term complications and surveillance in Inherited Bone Marrow Failure Syndromes
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #AvascularNecrosis #GVHD #SquamousCellCarcinoma #Hematology #RareDiseases #HEMEHUB
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #AvascularNecrosis #GVHD #SquamousCellCarcinoma #Hematology #RareDiseases #HEMEHUB
🩸 Additional insights on emerging therapies & future directions in Inherited Bone Marrow Failure Syndromes
#Hematology #RareDiseases #IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #NGS #Hematopathology #Microbiome #GVHD #StemCellTransplant #HEMEHUB
#Hematology #RareDiseases #IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #NGS #Hematopathology #Microbiome #GVHD #StemCellTransplant #HEMEHUB
January 30, 2026 at 12:31 AM
🩸 Additional insights on emerging therapies & future directions in Inherited Bone Marrow Failure Syndromes
#Hematology #RareDiseases #IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #NGS #Hematopathology #Microbiome #GVHD #StemCellTransplant #HEMEHUB
#Hematology #RareDiseases #IBMFS #InheritedBoneMarrowFailure #BoneMarrowFailure #NGS #Hematopathology #Microbiome #GVHD #StemCellTransplant #HEMEHUB
#LegacyContent: Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed #NextGenSeq Panel.
#OpenAccess: www.jmdjournal.org/article/S152...
#OpenAccess: www.jmdjournal.org/article/S152...
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
Inherited bone marrow failure syndromes (IBMFS) are a group of heterogeneous disorders
that account for ∼30% of pediatric cases of bone marrow failure and are often associated
with developmental abnor...
www.jmdjournal.org
March 19, 2025 at 5:31 PM
#LegacyContent: Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed #NextGenSeq Panel.
#OpenAccess: www.jmdjournal.org/article/S152...
#OpenAccess: www.jmdjournal.org/article/S152...
🩸🌍 HemeHub launches its 2026 educational programming this January, offering expert-led, case-based sessions and timely clinical updates throughout the year.
🔗Visit hemehub.org today to learn more!
#HemeHub #Hematology #BoneMarrowFailure #IBMFS #MedEd #ClinicalUpdates #RareHematology #HEMEHUB
🔗Visit hemehub.org today to learn more!
#HemeHub #Hematology #BoneMarrowFailure #IBMFS #MedEd #ClinicalUpdates #RareHematology #HEMEHUB
January 14, 2026 at 12:21 AM
🩸🌍 HemeHub launches its 2026 educational programming this January, offering expert-led, case-based sessions and timely clinical updates throughout the year.
🔗Visit hemehub.org today to learn more!
#HemeHub #Hematology #BoneMarrowFailure #IBMFS #MedEd #ClinicalUpdates #RareHematology #HEMEHUB
🔗Visit hemehub.org today to learn more!
#HemeHub #Hematology #BoneMarrowFailure #IBMFS #MedEd #ClinicalUpdates #RareHematology #HEMEHUB
💡Today's question! A young patient with pancytopenia and congenital findings suggestive of a #genetic disorder had a negative blood chromosomal breakage test. What is the most appropriate next step?
See the answer and explanation on the next slide!
#IBMFS #Hematology #BMF #RareDiseases #HemeHub
See the answer and explanation on the next slide!
#IBMFS #Hematology #BMF #RareDiseases #HemeHub
January 2, 2026 at 10:52 PM
💡Today's question! A young patient with pancytopenia and congenital findings suggestive of a #genetic disorder had a negative blood chromosomal breakage test. What is the most appropriate next step?
See the answer and explanation on the next slide!
#IBMFS #Hematology #BMF #RareDiseases #HemeHub
See the answer and explanation on the next slide!
#IBMFS #Hematology #BMF #RareDiseases #HemeHub
SLF2 and SMC5 mutations were confirmed as a cause of inherited bone marrow failure and a predisposition to MDS. Correcting SLF2 variants in patient-derived cells reversed the cellular abnormalities. doi.org/hcdzwd
Gene mutations behind serious bone marrow conditions identified
Inherited bone marrow failure syndrome, or IBMFS, describes a group of disorders in which inherited genetic abnormalities impair the bone marrow's ability to produce sufficient healthy blood cells.
medicalxpress.com
August 7, 2026 at 12:00 AM
SLF2 and SMC5 mutations were confirmed as a cause of inherited bone marrow failure and a predisposition to MDS. Correcting SLF2 variants in patient-derived cells reversed the cellular abnormalities. doi.org/hcdzwd
哪個 IBMFS 以純紅血球再生不良表現
Diamond-Blackfan anemia —— 白血球與血小板生成正常，只有紅血球前驅細胞在 proerythroblast 階段被阻斷。
Fanconi anemia、dyskeratosis congenita、Shwachman-Diamond、GATA2 症候群則多隨病程進展為三系全血球低下。
記法：Diamond-Blackfan 只有紅血球倒下。
#血液專科
https://hema-2026.hsiehting.com/q/111-054
Diamond-Blackfan anemia —— 白血球與血小板生成正常，只有紅血球前驅細胞在 proerythroblast 階段被阻斷。
Fanconi anemia、dyskeratosis congenita、Shwachman-Diamond、GATA2 症候群則多隨病程進展為三系全血球低下。
記法：Diamond-Blackfan 只有紅血球倒下。
#血液專科
https://hema-2026.hsiehting.com/q/111-054
August 4, 2026 at 4:05 AM
哪個 IBMFS 以純紅血球再生不良表現
Diamond-Blackfan anemia —— 白血球與血小板生成正常，只有紅血球前驅細胞在 proerythroblast 階段被阻斷。
Fanconi anemia、dyskeratosis congenita、Shwachman-Diamond、GATA2 症候群則多隨病程進展為三系全血球低下。
記法：Diamond-Blackfan 只有紅血球倒下。
#血液專科
https://hema-2026.hsiehting.com/q/111-054
Diamond-Blackfan anemia —— 白血球與血小板生成正常，只有紅血球前驅細胞在 proerythroblast 階段被阻斷。
Fanconi anemia、dyskeratosis congenita、Shwachman-Diamond、GATA2 症候群則多隨病程進展為三系全血球低下。
記法：Diamond-Blackfan 只有紅血球倒下。
#血液專科
https://hema-2026.hsiehting.com/q/111-054
Our expert-led session on Inherited Marrow Failure featuring Dr. Marcin Wlodarski and Dr. Taha Bat is available to watch anytime!
➡️Full session: youtu.be/cq4S1G8BZDY?...
🌐You can also access previous sessions directly at hemehub.org and on YouTube!
#IBMFS #BMF #Hematology #RareDiseases #HEMEHUB
➡️Full session: youtu.be/cq4S1G8BZDY?...
🌐You can also access previous sessions directly at hemehub.org and on YouTube!
#IBMFS #BMF #Hematology #RareDiseases #HEMEHUB
February 15, 2026 at 1:23 AM
Our expert-led session on Inherited Marrow Failure featuring Dr. Marcin Wlodarski and Dr. Taha Bat is available to watch anytime!
➡️Full session: youtu.be/cq4S1G8BZDY?...
🌐You can also access previous sessions directly at hemehub.org and on YouTube!
#IBMFS #BMF #Hematology #RareDiseases #HEMEHUB
➡️Full session: youtu.be/cq4S1G8BZDY?...
🌐You can also access previous sessions directly at hemehub.org and on YouTube!
#IBMFS #BMF #Hematology #RareDiseases #HEMEHUB
🩸 Questions of the day!
🧬 The first question explores #germline marrow failure syndromes, including #GATA2 mutations and inherited #MDS risk.
🔎 The second question looks at VEXAS syndrome in the context of marrow failure.
Swipe for answers and explanations!
#Hematology #BoneMarrowFailure #IBMFS
🧬 The first question explores #germline marrow failure syndromes, including #GATA2 mutations and inherited #MDS risk.
🔎 The second question looks at VEXAS syndrome in the context of marrow failure.
Swipe for answers and explanations!
#Hematology #BoneMarrowFailure #IBMFS
February 2, 2026 at 12:46 AM
🩸 Questions of the day!
🧬 The first question explores #germline marrow failure syndromes, including #GATA2 mutations and inherited #MDS risk.
🔎 The second question looks at VEXAS syndrome in the context of marrow failure.
Swipe for answers and explanations!
#Hematology #BoneMarrowFailure #IBMFS
🧬 The first question explores #germline marrow failure syndromes, including #GATA2 mutations and inherited #MDS risk.
🔎 The second question looks at VEXAS syndrome in the context of marrow failure.
Swipe for answers and explanations!
#Hematology #BoneMarrowFailure #IBMFS
🩸More insights on emerging therapies & future directions in Inherited Bone Marrow Failure Syndromes
#AndrogenTherapy #Danazol #Telomeres #BoneMarrowFailure #IBMFS #Eltrombopag #ClonalEvolution #CD117 #Hematopoiesis #StemCellTherapy #Hematology #ClinicalUpdates #MedEd #HEMEHUB
#AndrogenTherapy #Danazol #Telomeres #BoneMarrowFailure #IBMFS #Eltrombopag #ClonalEvolution #CD117 #Hematopoiesis #StemCellTherapy #Hematology #ClinicalUpdates #MedEd #HEMEHUB
January 27, 2026 at 10:11 PM
🩸More insights on emerging therapies & future directions in Inherited Bone Marrow Failure Syndromes
#AndrogenTherapy #Danazol #Telomeres #BoneMarrowFailure #IBMFS #Eltrombopag #ClonalEvolution #CD117 #Hematopoiesis #StemCellTherapy #Hematology #ClinicalUpdates #MedEd #HEMEHUB
#AndrogenTherapy #Danazol #Telomeres #BoneMarrowFailure #IBMFS #Eltrombopag #ClonalEvolution #CD117 #Hematopoiesis #StemCellTherapy #Hematology #ClinicalUpdates #MedEd #HEMEHUB
🧬🩸Today's question! See the answer and explanation on the next slide.
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #MalignantTransformation #TransplantToxicity #Hematology #ClinicalHematology #HEMEHUB
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #MalignantTransformation #TransplantToxicity #Hematology #ClinicalHematology #HEMEHUB
January 23, 2026 at 10:28 PM
🧬🩸Today's question! See the answer and explanation on the next slide.
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #MalignantTransformation #TransplantToxicity #Hematology #ClinicalHematology #HEMEHUB
#IBMFS #BoneMarrowFailure #HCT #StemCellTransplant #MalignantTransformation #TransplantToxicity #Hematology #ClinicalHematology #HEMEHUB