Carsten Speckmann
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View article: The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency
The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency Open
Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficienc…
View article: Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency
Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency Open
Ukraine’s healthcare system shows remarkable resilience in continuing newborn screening (NBS) program, beyond war challenges. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (…
View article: Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome
Non-cryopreserved Kx negative packed red cell concentrates to support hematopoietic stem cell transplantation in McLeod contiguous gene deletion syndrome Open
Transfusion management of Kx− individuals with McLeod phenotype (MLP) is highly challenging, particularly as cryopreservation affects red blood cell (RBC) concentrate quality. We developed a concept to provide non-cryopreserved Kx− RBCs ov…
View article: Newborn screening for SCID and severe T lymphocytopenia in Europe
Newborn screening for SCID and severe T lymphocytopenia in Europe Open
Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of the most recent expansions of NBS programs was the addition of severe combined immunodeficiency (SCID) based on detection of T-cell receptor excision …
View article: Electron-irradiation effects on monolayer MoS2 at elevated temperatures
Electron-irradiation effects on monolayer MoS2 at elevated temperatures Open
The effect of electron irradiation on 2D materials is an important topic, both for the correct interpretation of electron microscopy experiments and for possible applications in electron lithography. After the importance of including inela…
View article: Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter
Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter Open
View article: Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency Open
View article: Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study
Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study Open
HSCT is an effective therapy to prevent ongoing disease progression and morbidity, with improving survival rates over time and in patients with lower pre-HSCT disease activity.
View article: Engineering two-dimensional materials from single-layer NbS$_2$
Engineering two-dimensional materials from single-layer NbS$_2$ Open
Starting from a single layer of NbS$_2$ grown on graphene by molecular beam epitaxy, the single unit cell thick 2D materials Nb$_{5/3}$S$_3$-2D and Nb$_2$S$_3$-2D are created using two different pathways. Either annealing under sulfur-defi…
View article: The different faces of GATA2 deficiency: implications for therapy and surveillance
The different faces of GATA2 deficiency: implications for therapy and surveillance Open
GATA2 deficiency is one of the most common genetic predispositions to pediatric myelodysplastic syndrome (MDS) in children and adolescents. The wide spectrum of disease comprises, among others, hematological, immunological and pulmonary ma…
View article: Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations Open
View article: Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency Open
View article: Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation
Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation Open
Primary hemophagocytic lymphohistiocytosis (pHLH) is a life-threatening hyperinflammatory syndrome that develops mainly in patients with genetic disorders of lymphocyte cytotoxicity and X-linked lymphoproliferative syndromes. Previous stud…
View article: Neugeborenenscreening auf schwere kombinierte Immundefekte (SCID) in Deutschland
Neugeborenenscreening auf schwere kombinierte Immundefekte (SCID) in Deutschland Open
Zusammenfassung Patienten mit einem schweren kombinierten Immundefekt (SCID) erkranken aufgrund einer fehlenden bzw. gestörten T‑Zell-Immunität meist innerhalb der ersten Lebensmonate an schweren, oft letal verlaufenden Infektionen oder Ze…
View article: Impact of newborn screening for SCID on the management of congenital athymia
Impact of newborn screening for SCID on the management of congenital athymia Open
NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing…
View article: Corrigendum: Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
Corrigendum: Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? Open
[This corrects the article DOI: 10.3389/fimmu.2022.1011646.].
View article: JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH
JAKi Salvage Therapy Followed by Curative Cord Blood Transplantation in a XIAP-Deficient Infant with Relapsing HLH Open
View article: Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) Open
View article: Combined electronic excitation and knock-on damage in monolayer MoS2
Combined electronic excitation and knock-on damage in monolayer MoS2 Open
Electron irradiation-induced damage is often the limiting factor in imaging materials prone to ionization or electronic excitations due to inelastic electron scattering. Quantifying the related processes at the atomic scale has only become…
View article: Diagnostic Evaluation of Pediatricautoimmune-Lymphoproliferative Immunodeficiencies (ALPID): A Prospective Cohort Study
Diagnostic Evaluation of Pediatricautoimmune-Lymphoproliferative Immunodeficiencies (ALPID): A Prospective Cohort Study Open
View article: Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)
Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API) Open
Background T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods Children with abnormal TREC-NBS were referred to a newly establ…
View article: Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency Open
Patients with inherited CARMIL2 or CD28 deficiency have defective T cell CD28 signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three CARMIL2 isoforms is produced and functional acr…
View article: Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study
Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study Open
View article: Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? Open
Purpose Heterozygous mutations in CTLA4 lead to an inborn error of immunity characterized by immune dysregulation and immunodeficiency, known as CTLA-4 insufficiency. Cohort studies on CTLA4 mutation carriers showed a reduced penetrance (a…
View article: Chronische Polyarthritis mit Beginn im 4. Lebensmonat
Chronische Polyarthritis mit Beginn im 4. Lebensmonat Open
Die Diagnose einer juvenilen idiopathischen Arthritis basiert auf dem Vorliegen einer persistierenden Arthritis nach sorgfältigem Ausschluss anderer Erkrankungen. Im vorliegenden Fall berichten wir über eine Patientin, bei der es bereits i…
View article: Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50 Open
Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the m…
View article: Longitudinal Immune Response to 3 Doses of Messenger RNA Vaccine Against Coronavirus Disease 2019 (COVID-19) in Pediatric Patients Receiving Chemotherapy for Cancer
Longitudinal Immune Response to 3 Doses of Messenger RNA Vaccine Against Coronavirus Disease 2019 (COVID-19) in Pediatric Patients Receiving Chemotherapy for Cancer Open
Our study in 21 pediatric cancer patients demonstrates that 3 doses of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) messenger RNA vaccine (BioNTech/Pfizer) elicited both humoral and cellular immunity in most patients during…
View article: Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study Open
Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lac…
View article: Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency Open