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Article ; Online: A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family.

Cros, Guilhem / Chapdelaine, Hugo / Teira, Pierre / Fernandez, Isabel / Pastore, Yves / Haddad, Elie / Touzot, Fabien

The journal of allergy and clinical immunology. In practice

2023 Volume 11, Issue 10, Page(s) 3265–3268

MeSH term(s)	Humans ; CARD Signaling Adaptor Proteins ; Caspase Activation and Recruitment Domain ; Family
Chemical Substances	CARD Signaling Adaptor Proteins ; CARD11 protein, human (EC 4.6.1.2)
Language	English
Publishing date	2023-06-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2023.06.041
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Article ; Online: Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.

Desjardins, Marie-Pier / Naccache, Lamia / Hébert, Audrey / Auger, Isabelle / Teira, Pierre / Pelland-Marcotte, Marie-Claude

Clinical pediatrics

2022 Volume 62, Issue 5, Page(s) 399–403

Abstract: Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of ... ...

Abstract	Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood cells, skin, bones, teeth, and spleen. Consequently, the exposure to sunlight causes severe photosensitivity, long-term intravascular hemolysis, and eventually, irreversible mutilating deformities. Several supportive therapies such as strict sun avoidance, physical sunblocks, red blood cells transfusions, hydroxyurea, and splenectomy are commonly used in the management of CEP. Currently, the only available curative treatment of CEP is hematopoietic stem cell transplantation (HSCT). In this article, we present a young girl in which precocious genetic testing enabled early diagnosis and allowed curative treatment with HSCT for CEP at the age of 3 months of age, that is, the youngest reported case thus far.
MeSH term(s)	Female ; Humans ; Infant ; Porphyria, Erythropoietic/diagnosis ; Porphyria, Erythropoietic/genetics ; Porphyria, Erythropoietic/therapy ; Uroporphyrinogen III Synthetase/genetics ; Hematopoietic Stem Cell Transplantation ; Bone Marrow ; Genetic Testing
Chemical Substances	Uroporphyrinogen III Synthetase (EC 4.2.1.75)
Language	English
Publishing date	2022-10-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	207678-0
ISSN	1938-2707 ; 0009-9228
ISSN (online)	1938-2707
ISSN	0009-9228
DOI	10.1177/00099228221128661
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Article ; Online: Homozygous variant in

Tremblay-Laganière, Camille / Michaud, Coralie / Abourjaili-Bilodeau, Raphaël / Cabezas, Alicia / Canales, José / Costas, María Jesús / Ribeiro, João M / Leclerc-Blain, Jessica / Touzot, Fabien / Haddad, Elie / Teira, Pierre / Duval, Michel / Onoufriadis, Alexandros / Meunier, Brigitte / Cameselle, José Carlos / Campeau, Philippe M

Journal of medical genetics

2024

Abstract: Background: Triokinase and FMN cyclase (TKFC) is a bifunctional enzyme involved in fructose metabolism. Triokinase catalyses the phosphorylation of fructose-derived glyceraldehyde (GA) and exogenous dihydroxyacetone (DHA), while FMN cyclase generates ... ...

Abstract	Background: Triokinase and FMN cyclase (TKFC) is a bifunctional enzyme involved in fructose metabolism. Triokinase catalyses the phosphorylation of fructose-derived glyceraldehyde (GA) and exogenous dihydroxyacetone (DHA), while FMN cyclase generates cyclic FMN. TKFC regulates the antiviral immune response by interacting with IFIH1 (MDA5). Previously reported pathogenic variants in Methods: Whole-exome sequencing identified a homozygous novel variant in Results: The individual presented with chronic active Epstein-Barr virus disease and multiple bacterial and viral infections. Clinical investigations revealed hypogammaglobulinaemia, near absent natural killer cells and decreased memory B cells. Enzymatic assays showed that this variant displayed defective DHA and GA kinase activity while maintaining FMN cyclase activity. An allogenic bone marrow transplantation corrected the patient's immunodeficiency. Conclusion: Our report suggests that TKFC may have a role in the immunological system. The pathological features associated with this variant are possibly linked with DHA/GA kinase inactivation through a yet an unknown mechanism. This report thus adds a possible new pathway of immunometabolism to explore further.
Language	English
Publishing date	2024-05-02
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2024-109853
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Article: A phase 1, first-in-child, multicenter study to evaluate the safety and efficacy of the oncolytic herpes virus talimogene laherparepvec in pediatric patients with advanced solid tumors.

Moreno, Lucas / Teira, Pierre / Croop, James M / Gerber, Nicolas U / André, Nicolas / Aerts, Isabelle / Gros Subias, Luis / De Wilde, Bram / Bautista, Francisco / Turpin, Brian / Kunduri, Srinivasa / Hamidi, Ali / Lawrence, Tatiana / Streby, Keri A

Frontiers in pediatrics

2023 Volume 11, Page(s) 1183295

Abstract: Background: The survival rates for pediatric patients with relapsed and refractory tumors are poor. Successful treatment strategies are currently lacking and there remains an unmet need for novel therapies for these patients. We report here the results ... ...

Abstract	Background: The survival rates for pediatric patients with relapsed and refractory tumors are poor. Successful treatment strategies are currently lacking and there remains an unmet need for novel therapies for these patients. We report here the results of a phase 1 study of talimogene laherparepvec (T-VEC) and explore the safety of this oncolytic immunotherapy for the treatment of pediatric patients with advanced non-central nervous system tumors. Methods: T-VEC was delivered by intralesional injection at 10 Results: Fifteen patients were enrolled into two cohorts based on age: cohort A1 ( Conclusions: T-VEC was tolerable as assessed by the observation of no DLTs. The safety data were consistent with the patients' underlying cancer and the known safety profile of T-VEC from studies in the adult population. No objective responses were observed. Trial registration: ClinicalTrials.gov: NCT02756845. https://clinicaltrials.gov/ct2/show/NCT02756845.
Language	English
Publishing date	2023-05-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2023.1183295
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Article ; Online: Clinical response to dabrafenib and chemotherapy in clonally-related histiocytosis and acute lymphoblastic leukemia.

Hubert, Gervaise / Bittencourt, Henrique / Laverdière, Caroline / Teira, Pierre / Cellot, Sonia / Langlois, Sylvie / Rouette, Alexandre / Sontag, Thomas / Sinnett, Daniel / Dal-Soglio, Dorothée / Turpin, Sophie / Tran, Thai Hoa

Haematologica

2023 Volume 108, Issue 6, Page(s) 1707–1712

MeSH term(s)	Humans ; Histiocytosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Imidazoles/therapeutic use ; Oximes/therapeutic use
Chemical Substances	dabrafenib (QGP4HA4G1B) ; Imidazoles ; Oximes
Language	English
Publishing date	2023-06-01
Publishing country	Italy
Document type	Case Reports
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2022.281926
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Article ; Online: CTL019 (tisagenlecleucel): CAR-T therapy for relapsed and refractory B-cell acute lymphoblastic leukemia.

Vairy, Stephanie / Garcia, Julia Lopes / Teira, Pierre / Bittencourt, Henrique

Drug design, development and therapy

2018 Volume 12, Page(s) 3885–3898

Abstract: Over the past decades, survival of patients with acute lymphoblastic leukemia (ALL) has dramatically improved, but the subgroup of patients with relapsed/refractory ALL still continues to have dismal prognosis. As an emerging therapeutic approach, ... ...

Abstract	Over the past decades, survival of patients with acute lymphoblastic leukemia (ALL) has dramatically improved, but the subgroup of patients with relapsed/refractory ALL still continues to have dismal prognosis. As an emerging therapeutic approach, chimeric antigen receptor-modified T-cells (CAR-T) represent one of the few practice-changing therapies for this subgroup of patients. Originally conceived and built in Philadelphia (University of Pennsylvania), CTL019 or tisagenlecleucel, the first CAR-T approved by the US Food and Drug Administration, showed impressive results in refractory/relapsed ALL since the publication on two pediatric patients in 2013. It is in this context that we provide a review of this product in terms of manufacturing, pharmacology, toxicity, and efficacy studies. Evaluation and management of toxicities, particularly cytokine release syndrome and neurotoxicity, is recognized as an essential part of the patient treatment with broader use of IL-6 receptor inhibitor. An under-assessed aspect, the quality of life of patients entering CAR-T cells treatment, will also be reviewed. By their unique nature, CAR-T cells such as tisagenlecleucel operate in a different way than typical drugs, but also provide unique hope for B-cell malignancies.
MeSH term(s)	Humans ; Immunotherapy, Adoptive ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/immunology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy ; Receptors, Antigen, T-Cell/chemistry ; Receptors, Antigen, T-Cell/immunology ; Receptors, Antigen, T-Cell/therapeutic use
Chemical Substances	Receptors, Antigen, T-Cell ; tisagenlecleucel (Q6C9WHR03O)
Language	English
Publishing date	2018-11-12
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	2451346-5
ISSN	1177-8881 ; 1177-8881
ISSN (online)	1177-8881
ISSN	1177-8881
DOI	10.2147/DDDT.S138765
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Article: Case report: Success of allogeneic hematopoietic stem cell transplantation for refractory systemic-onset juvenile idiopathic arthritis.

Beaufils, Camille / Proulx, Catherine / Blincoe, Annaliesse / Teira, Pierre / Bittencourt, Henrique / Cellot, Sonia / Duval, Michel / Morin, Marie-Paule / De Bruycker, Jean Jacques / Couture, Julie / Samaan, Kathryn / Decaluwe, Hélène / Kleiber, Niina / El-Jalbout, Ramy / Touzot, Fabien / Haddad, Elie / Barsalou, Julie

Frontiers in medicine

2023 Volume 10, Page(s) 1275927

Abstract: Objectives: This study reports cases of systemic-onset juvenile idiopathic arthritis (sJIA) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) at our center and reviews published outcomes of allo-HSCT in sJIA.: Methods: We ... ...

Abstract	Objectives: This study reports cases of systemic-onset juvenile idiopathic arthritis (sJIA) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) at our center and reviews published outcomes of allo-HSCT in sJIA. Methods: We present a case report of two patients with sJIA who underwent allo-HSCT at a tertiary pediatric hospital. Each patient's disease course and allo-HSCT protocol/outcome are described. Outcomes of published cases of allo-HSCT in sJIA were compared to our experience. Results: Two patients with sJIA had allo-HSCT. Both failed multiple lines of disease-modifying anti-rheumatic drugs and experienced severe disease/treatment-related complications. Despite post-HSCT complications, both recovered without sequelae. Five years post-HSCT, patient 1 is in complete remission (CR) and is off medications. Patient 2 was in CR until 11 months post-HSCT after which he developed three disease flares. At 4 years post-HSCT he is currently in CR on Adalimumab monotherapy. Engraftment was excellent with a donor chimerism of 100% for patient 1 and 93% for patient 2. In the literature, the outcome of allo-HSCT is reported in 13 sJIA patients. When merging those with our 2 patients, 1/15 patients died and 13/14 achieved CR, of which 12 are off medications (median [range] follow-up: 2.2 [0.2-7.0] years). Extended follow-up data on 11 of the 13 reported sJIA patients showed that an additional 3 patients flared at 3, 4, and 10 years post-HSCT. Conclusion: We report two patients with severe/refractory sJIA who underwent successful allo-HSCT and achieved CR. Allo-HSCT is a potential curative option for severe/refractory sJIA. It should be considered only after failure of conventional sJIA treatments and when an HLA-matched donor is available in order to lower transplant-related mortality. The outcomes of reported sJIA patients who received allo-HSCT are encouraging but long-term follow-up data are needed to better characterized the risk-benefit ratio of this procedure.
Language	English
Publishing date	2023-10-16
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2775999-4
ISSN	2296-858X
ISSN	2296-858X
DOI	10.3389/fmed.2023.1275927
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Article ; Online: Study 275: Updated Expanded Access Program for Remestemcel-L in Steroid-Refractory Acute Graft-versus-Host Disease in Children.

Kurtzberg, Joanne / Prockop, Susan / Chaudhury, Sonali / Horn, Biljana / Nemecek, Eneida / Prasad, Vinod / Satwani, Prakash / Teira, Pierre / Hayes, Jack / Burke, Elizabeth

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

2020 Volume 26, Issue 5, Page(s) 855–864

Abstract: Clinical outcomes in children with steroid-refractory acute graft-versus-host disease (SR-aGVHD) are generally poor, with a high mortality rate and limited therapeutic options. Here we report our updated investigational experience with mesenchymal ... ...

Abstract	Clinical outcomes in children with steroid-refractory acute graft-versus-host disease (SR-aGVHD) are generally poor, with a high mortality rate and limited therapeutic options. Here we report our updated investigational experience with mesenchymal stromal cell (MSC) therapy with remestemcel-L in a multicenter expanded access protocol (ClinicalTrials.gov identifier NCT00759018) in 241 children with aGVHD who failed to respond to steroids with or without other secondary and tertiary immunosuppressive therapies. A total of 241 children with grade B-D SR-aGVHD were enrolled at 50 sites in 8 countries and received 8 biweekly i.v. infusions of human MSCs, 2 × 10
MeSH term(s)	Acute Disease ; Child ; Female ; Graft vs Host Disease/drug therapy ; Humans ; Male ; Mesenchymal Stem Cell Transplantation ; Mesenchymal Stem Cells ; Steroids/therapeutic use
Chemical Substances	Steroids
Language	English
Publishing date	2020-02-07
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1474865-4
ISSN	1523-6536 ; 1083-8791
ISSN (online)	1523-6536
ISSN	1083-8791
DOI	10.1016/j.bbmt.2020.01.026
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Zs.A 5082: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Patients' NK cell stimulation with activated plasmacytoid dendritic cells increases dinutuximab-induced neuroblastoma killing.

Belounis, Assila / Ayoub, Marina / Cordeiro, Paulo / Lemieux, William / Teira, Pierre / Haddad, Elie / Herblot, Sabine / Duval, Michel

Cancer immunology, immunotherapy : CII

2020 Volume 69, Issue 9, Page(s) 1767–1779

Abstract: Targeted immunotherapy has improved the outcome of patients with high-risk neuroblastoma (NB). However, immune escape of tumor cells still occurs and about 40% of NB patients relapse and die from their disease. We previously showed that natural killer ( ... ...

Abstract	Targeted immunotherapy has improved the outcome of patients with high-risk neuroblastoma (NB). However, immune escape of tumor cells still occurs and about 40% of NB patients relapse and die from their disease. We previously showed that natural killer (NK) cell stimulation by Toll-like receptor (TLR)-activated plasmacytoid dendritic cells (pDC) increases the efficacy of dinutuximab-based immunotherapy against NB cell lines via the TRAIL death-receptor pathway. With the aim to translate our findings into a novel adoptive therapy of TLR-activated pDC, we investigated the pDC/NK cell axis in NB patients undergoing dinutuximab-based immunotherapy. We show that pDC counts were low at the beginning of immunotherapy but reached normal levels over time. Blood NK cell counts were normal in all patients, although a high proportion of CD56
MeSH term(s)	Adolescent ; Antibodies, Monoclonal/immunology ; Antibodies, Monoclonal/pharmacology ; Antigen Presentation/immunology ; Child ; Child, Preschool ; Cytotoxicity, Immunologic/immunology ; Dendritic Cells/immunology ; Female ; Humans ; Immunotherapy/methods ; Immunotherapy, Adoptive/methods ; Killer Cells, Natural/immunology ; Lymphocyte Activation/immunology ; Male ; Neoplasm Recurrence, Local/immunology ; Neuroblastoma/drug therapy ; Neuroblastoma/immunology ; Toll-Like Receptors/immunology
Chemical Substances	Antibodies, Monoclonal ; Toll-Like Receptors ; dinutuximab (7SQY4ZUD30)
Language	English
Publishing date	2020-04-27
Publishing country	Germany
Document type	Journal Article
ZDB-ID	195342-4
ISSN	1432-0851 ; 0340-7004
ISSN (online)	1432-0851
ISSN	0340-7004
DOI	10.1007/s00262-020-02581-0
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Article ; Online: Intrabone infusion for allogeneic umbilical cord blood transplantation in children.

Vairy, Stephanie / Louis, Isabelle / Vachon, Marie-France / Richer, Johanne / Teira, Pierre / Cellot, Sonia / Villeneuve, Edith / Haddad, Elie / Duval, Michel / Bittencourt, Henrique

Bone marrow transplantation

2021 Volume 56, Issue 8, Page(s) 1937–1943

Abstract: Umbilical cord blood transplantation (UCBT) has been used to treat malignant and non-malignant diseases. UCBT offers the advantages of easy procurement and acceptable partial HLA mismatches, but also shows delayed hematopoietic and immunological ... ...

Abstract	Umbilical cord blood transplantation (UCBT) has been used to treat malignant and non-malignant diseases. UCBT offers the advantages of easy procurement and acceptable partial HLA mismatches, but also shows delayed hematopoietic and immunological recoveries. We postulated that an intrabone (IB) infusion of cord blood could provide a faster short- and long-term engraftment in a pediatric population with malignant and non-malignant hematologic diseases. We conducted this phase I-II single arm, exploratory clinical trial (NCT01711788) from 2012 to 2016 in a single center. Fifteen patients aged from 1.9 to 16.4 years received an IB UCBT. Median time to neutrophils and platelet recoveries were 18 days (range: 13-36 days) and 42 days (range: 26-107 days), respectively. Rate of severe acute GVH grade was low, with only one patient with grade III aGVH. Relapse occurred in 5 patients (38.5%) and TRM occurred in 1 patient. This leads to 6 years EFS and OS of 66.7% and 80% respectively. In conclusion, IB UCBT is safe and well-tolerated in children and hematological recovery compared similarly to the results obtained with IV UCBT.
MeSH term(s)	Child ; Cord Blood Stem Cell Transplantation ; Fetal Blood ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Humans ; Neoplasm Recurrence, Local
Language	English
Publishing date	2021-04-06
Publishing country	England
Document type	Journal Article
ZDB-ID	632854-4
ISSN	1476-5365 ; 0268-3369 ; 0951-3078
ISSN (online)	1476-5365
ISSN	0268-3369 ; 0951-3078
DOI	10.1038/s41409-021-01275-0
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