LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 26

Search options

  1. Article ; Online: Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia.

    Gocho, Yoshihiro / Yang, Jun J

    Blood

    2019  Volume 134, Issue 10, Page(s) 793–797

    Abstract: Recent genome-wide studies have revealed a plethora of germline variants that significantly influence the susceptibility to acute lymphoblastic leukemia (ALL), thus providing compelling evidence for genetic inheritance of this blood cancer. In particular, ...

    Abstract Recent genome-wide studies have revealed a plethora of germline variants that significantly influence the susceptibility to acute lymphoblastic leukemia (ALL), thus providing compelling evidence for genetic inheritance of this blood cancer. In particular, hematopoietic transcription factors (eg, ETV6, PAX5, IKZF1) are most frequently implicated in familial ALL, and germline variants in these genes confer strong predisposition (albeit with incomplete penetrance). Studies of germline risk factors for ALL provide unique insights into the molecular etiology of this leukemia.
    MeSH term(s) Genetic Predisposition to Disease ; Germ-Line Mutation ; Hematopoiesis/genetics ; Hematopoietic System/metabolism ; Hematopoietic System/physiology ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/blood ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Risk Factors ; Transcription Factors/genetics ; Transcription Factors/metabolism
    Chemical Substances Transcription Factors
    Language English
    Publishing date 2019-07-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2018852400
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: HLA-haploidentical T-cell receptor αβT/B-cell-depleted stem cell transplantation for Fanconi anemia.

    Iguchi, Akihiro / Uchiyama, Toru / Fujimori, Kentaro / Gocho, Yoshihiro / Sakaguchi, Hirotoshi / Deguchi, Takao / Tomizawa, Daisuke / Imadome, Ken-Ichi / Onodera, Masafumi / Matsumoto, Kimikazu

    International journal of hematology

    2024  Volume 119, Issue 3, Page(s) 334–337

    Abstract: HLA-haploidentical stem cell transplantation (haplo-SCT) using post-transplant high-dose cyclophosphamide (PT-CY) is an alternative choice when a suitable donors is unavailable. However, PT-CY is difficult in patients with Fanconi anemia (FA) due to ... ...

    Abstract HLA-haploidentical stem cell transplantation (haplo-SCT) using post-transplant high-dose cyclophosphamide (PT-CY) is an alternative choice when a suitable donors is unavailable. However, PT-CY is difficult in patients with Fanconi anemia (FA) due to their high vulnerability to alkylating agents. For FA, we prefer haplo-SCT by T-cell receptor αβT-cell and B-cell depletion (αβT/B-depleted haplo-SCT), which can reduce the risks of PT-CY-related complications and graft-versus-host disease (GVHD). An 11-year-old boy with diagnosed FA (FANCG mutation) and bone marrow failure was to receive αβT/B-depleted haplo-SCT from his father (HLA 4/8 allele matched) due to absence of an HLA-matched donors. αβT/B-depleted peripheral blood stem cells (CD34 + cell count, 1.17 × 10
    MeSH term(s) Male ; Humans ; Child ; Fanconi Anemia/therapy ; Fanconi Anemia/complications ; Hematopoietic Stem Cell Transplantation/adverse effects ; Cyclophosphamide ; Graft vs Host Disease/etiology ; Graft vs Host Disease/prevention & control ; Graft vs Host Disease/drug therapy ; Receptors, Antigen, T-Cell ; Transplantation Conditioning/adverse effects
    Chemical Substances Cyclophosphamide (8N3DW7272P) ; Receptors, Antigen, T-Cell
    Language English
    Publishing date 2024-01-16
    Publishing country Japan
    Document type Case Reports ; Journal Article
    ZDB-ID 1076875-0
    ISSN 1865-3774 ; 0917-1258 ; 0925-5710
    ISSN (online) 1865-3774
    ISSN 0917-1258 ; 0925-5710
    DOI 10.1007/s12185-023-03703-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: Hematopoietic stem cell transplantation in two sisters with bone marrow failure associated with POLE gene variants.

    Fujimori, Kentaro / Ikenobe, Norihito / Gocho, Yoshihiro / Uchiyama, Toru / Deguchi, Takao / Sakaguchi, Hirotoshi / Tomizawa, Daisuke / Takeuchi, Ichiro / Shimizu, Hirotaka / Arai, Katsuhiro / Ishiguro, Akira / Matsumoto, Kimikazu / Iguchi, Akihiro

    Pediatric blood & cancer

    2024  Volume 71, Issue 5, Page(s) e30919

    MeSH term(s) Humans ; Hematopoietic Stem Cell Transplantation ; Bone Marrow Transplantation ; Bone Marrow Failure Disorders ; Bone Marrow Cells
    Language English
    Publishing date 2024-02-26
    Publishing country United States
    Document type Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30919
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article ; Online: Genome-wide CRISPR/Cas9 screening identifies determinant of panobinostat sensitivity in acute lymphoblastic leukemia.

    Jiang, Chuang / Qian, Maoxiang / Gocho, Yoshihiro / Yang, Wentao / Du, Guoqing / Shen, Shuhong / Yang, Jun J / Zhang, Hui

    Blood advances

    2022  Volume 6, Issue 8, Page(s) 2496–2509

    Abstract: Epigenetic alterations, including histone acetylation, contribute to the malignant transformation of hematopoietic cells and disease progression, as well as the emergence of chemotherapy resistance. Targeting histone acetylation provides new strategies ... ...

    Abstract Epigenetic alterations, including histone acetylation, contribute to the malignant transformation of hematopoietic cells and disease progression, as well as the emergence of chemotherapy resistance. Targeting histone acetylation provides new strategies for the treatment of cancers. As a pan-histone deacetylase inhibitor, panobinostat has been approved by the US Food and Drug Administration for the treatment of multiple myeloma and has shown promising antileukemia effects in acute lymphoblastic leukemia (ALL). However, the underlying drug resistance mechanism in ALL remains largely unknown. Using genome-wide Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR-associated (Cas)9 (CRISPR/Cas9) screening, we identified mitochondrial activity as the driver of panobinostat resistance in ALL. Mechanistically, ectopic SIRT1 expression activated mitochondrial activity and sensitized ALL to panobinostat through activating mitochondria-related apoptosis pathway. Meanwhile, the transcription level of SIRT1 was significantly associated with panobinostat sensitivity across diverse tumor types and thus could be a potential biomarker of panobinostat response in cancers. Our data suggest that patients with higher SIRT1 expression in cancer cells might benefit from panobinostat treatment, supporting the implementation of combinatorial therapy with SIRT1 or mitochondrial activators to overcome panobinostat resistance.
    MeSH term(s) Apoptosis ; CRISPR-Cas Systems ; Histones/metabolism ; Humans ; Panobinostat/pharmacology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Sirtuin 1/genetics ; Sirtuin 1/metabolism ; Sirtuin 1/pharmacology ; United States
    Chemical Substances Histones ; Panobinostat (9647FM7Y3Z) ; Sirtuin 1 (EC 3.5.1.-)
    Language English
    Publishing date 2022-02-22
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2915908-8
    ISSN 2473-9537 ; 2473-9529
    ISSN (online) 2473-9537
    ISSN 2473-9529
    DOI 10.1182/bloodadvances.2021006152
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Pediatric hemophagocytic lymphohistiocytosis after concomitant administration of SARS-CoV-2 vaccine and influenza vaccine.

    Kaizuka, Anna / Tokuda, Yusuke / Morooka, Shintaro / Gocho, Yoshihiro / Funaki, Takanori / Uchiyama, Toru / Hirata, Yuiko / Yasumi, Takahiro / Maekawa, Takanobu / Kubota, Mitsuru / Ishiguro, Akira

    Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy

    2023  Volume 30, Issue 1, Page(s) 67–70

    Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a highly lethal disease characterized by fever, cytopenia, splenomegaly, and hemophagocytosis. Whereas infectious diseases, malignant tumors, and autoimmune diseases are often triggers for HLH, reports of HLH ... ...

    Abstract Hemophagocytic lymphohistiocytosis (HLH) is a highly lethal disease characterized by fever, cytopenia, splenomegaly, and hemophagocytosis. Whereas infectious diseases, malignant tumors, and autoimmune diseases are often triggers for HLH, reports of HLH associated with vaccination are limited. In this report, we describe a case of HLH in a 12-year-old female patient after simultaneous administration of the bivalent messenger RNA severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine and quadrivalent inactivated influenza vaccine. The patient presented to our hospital with fever on the day after vaccination. Considering the splenomegaly, cytopenia, hemophagocytosis in the bone marrow, and high ferritin level, HLH was diagnosed 12 days after vaccination. Various tests ruled out any infectious disease, malignant tumor, or autoimmune disease. The patient was treated only with 2 mg/kg/day of oral prednisolone, fever improved 13 days after vaccination, and blood test findings rapidly improved. Although HLH after SARS-CoV-2 vaccination or concomitant administration with influenza vaccination is still rare, we emphasize the importance of early HLH diagnosis when persistent fever is observed following vaccination.
    MeSH term(s) Female ; Humans ; Child ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/drug therapy ; Lymphohistiocytosis, Hemophagocytic/etiology ; COVID-19 Vaccines/adverse effects ; Influenza Vaccines/adverse effects ; Splenomegaly ; COVID-19/complications ; SARS-CoV-2 ; Communicable Diseases
    Chemical Substances COVID-19 Vaccines ; Influenza Vaccines
    Language English
    Publishing date 2023-08-30
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 1355399-9
    ISSN 1437-7780 ; 1341-321X
    ISSN (online) 1437-7780
    ISSN 1341-321X
    DOI 10.1016/j.jiac.2023.08.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Prognostic and Pharmacotypic Heterogeneity of Hyperdiploidy in Childhood ALL.

    Lee, Shawn H R / Ashcraft, Emily / Yang, Wenjian / Roberts, Kathryn G / Gocho, Yoshihiro / Rowland, Lauren / Inaba, Hiroto / Karol, Seth E / Jeha, Sima / Crews, Kristine R / Mullighan, Charles G / Relling, Mary V / Evans, William E / Cheng, Cheng / Yang, Jun J / Pui, Ching-Hon

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology

    2023  Volume 41, Issue 35, Page(s) 5422–5432

    Abstract: Purpose: High hyperdiploidy, the largest and favorable subtype of childhood ALL, exhibits significant biological and prognostic heterogeneity. However, factors contributing to the varied treatment response and the optimal definition of hyperdiploidy ... ...

    Abstract Purpose: High hyperdiploidy, the largest and favorable subtype of childhood ALL, exhibits significant biological and prognostic heterogeneity. However, factors contributing to the varied treatment response and the optimal definition of hyperdiploidy remain uncertain.
    Methods: We analyzed outcomes of patients treated on two consecutive frontline ALL protocols, using six different definitions of hyperdiploidy: chromosome number 51-67 (Chr51-67); DNA index (DI; DI1.16-1.6); United Kingdom ALL study group low-risk hyperdiploid, either trisomy of chromosomes 17 and 18 or +17 or +18 in the absence of +5 and +20; single trisomy of chromosome 18; double trisomy of chromosomes 4 and 10; and triple trisomy (TT) of chromosomes 4, 10, and 17. Additionally, we characterized ALL ex vivo pharmacotypes across eight main cytotoxic drugs.
    Results: Among 1,096 patients analyzed, 915 had B-ALL and 634 had pharmacotyping performed. In univariate analysis, TT emerged as the most favorable criterion for event-free survival (EFS; 10-year EFS, 97.3%
    Conclusion: Among different definitions of hyperdiploid ALL, DI is optimal based on independent prognostic impact and also the large proportion of low-risk patients identified. Hyperdiploid ALL exhibited particular sensitivities to asparaginase and mercaptopurine, with chromosome-specific associations.
    MeSH term(s) Humans ; Prognosis ; Trisomy/genetics ; Mercaptopurine ; Asparaginase/therapeutic use ; Neoplasm Recurrence, Local ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy
    Chemical Substances Mercaptopurine (E7WED276I5) ; Asparaginase (EC 3.5.1.1)
    Language English
    Publishing date 2023-09-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604914-x
    ISSN 1527-7755 ; 0732-183X
    ISSN (online) 1527-7755
    ISSN 0732-183X
    DOI 10.1200/JCO.23.00880
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Preclinical pharmacokinetic and pharmacodynamic evaluation of dasatinib and ponatinib for the treatment of T-cell acute lymphoblastic leukemia.

    Yoshimura, Satoshi / Panetta, John C / Hu, Jianzhong / Li, Lie / Gocho, Yoshihiro / Du, Guoqing / Umezawa, Akihiro / Karol, Seth E / Pui, Ching-Hon / Mullighan, Charles G / Konopleva, Marina / Stock, Wendy / Teachey, David T / Jain, Nitin / Yang, Jun J

    Leukemia

    2023  Volume 37, Issue 6, Page(s) 1194–1203

    Abstract: LCK is a novel therapeutic target in ~40% of T-cell acute lymphoblastic leukemia (T-ALL), and dasatinib and ponatinib can act as LCK inhibitors with therapeutic effects. We herein report a comprehensive preclinical pharmacokinetic and pharmacodynamic ... ...

    Abstract LCK is a novel therapeutic target in ~40% of T-cell acute lymphoblastic leukemia (T-ALL), and dasatinib and ponatinib can act as LCK inhibitors with therapeutic effects. We herein report a comprehensive preclinical pharmacokinetic and pharmacodynamic evaluation of dasatinib and ponatinib in LCK-activated T-ALL. In 51 human T-ALL cases, these two drugs showed similar patterns of cytotoxic activity, with ponatinib being slightly more potent. Given orally in mice, ponatinib was associated with slower clearance with a longer T
    MeSH term(s) Humans ; Animals ; Mice ; Dasatinib/pharmacology ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Protein Kinase Inhibitors/therapeutic use ; Antineoplastic Agents/pharmacology ; Antineoplastic Agents/therapeutic use ; Pyridazines/pharmacology ; Pyridazines/therapeutic use ; T-Lymphocytes/metabolism ; Fusion Proteins, bcr-abl/genetics ; Fusion Proteins, bcr-abl/metabolism
    Chemical Substances Dasatinib (RBZ1571X5H) ; ponatinib (4340891KFS) ; Protein Kinase Inhibitors ; Antineoplastic Agents ; Pyridazines ; Fusion Proteins, bcr-abl (EC 2.7.10.2)
    Language English
    Publishing date 2023-04-19
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-023-01900-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.

    Hirai, Maiko / Yagasaki, Hiroshi / Kanezawa, Koji / Ueno, Masaru / Shimozawa, Katsuyoshi / Imai, Kohsuke / Morio, Tomohiro / Kato, Motohiro / Gocho, Yoshihiro / Narumi, Satoshi / Ebihara, Yasuhiro / Morioka, Ichiro

    Journal of pediatric hematology/oncology

    2022  Volume 45, Issue 2, Page(s) e290–e293

    Abstract: Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and ... ...

    Abstract Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post-cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow-derived CD34 + cells was inferred.
    MeSH term(s) Child ; Humans ; Infant ; Chromosomes, Human, Pair 7 ; Clonal Hematopoiesis ; Cord Blood Stem Cell Transplantation ; Germ-Line Mutation ; Hematopoiesis ; Intracellular Signaling Peptides and Proteins/genetics ; Transcription Factors/genetics ; Tumor Suppressor Proteins/genetics
    Chemical Substances Intracellular Signaling Peptides and Proteins ; SAMD9 protein, human ; Transcription Factors ; Tumor Suppressor Proteins
    Language English
    Publishing date 2022-10-21
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002578
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.

    Fujikawa, Hiroki / Shimizu, Hirotaka / Nambu, Ryusuke / Takeuchi, Ichiro / Matsui, Toshihiro / Sakamoto, Kenichi / Gocho, Yoshihiro / Miyamoto, Takayuki / Yasumi, Takahiro / Yoshioka, Takako / Arai, Katsuhiro

    Clinical immunology (Orlando, Fla.)

    2022  Volume 246, Page(s) 109203

    Abstract: STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5. Although STXBP2 mutations reportedly cause monogenic inflammatory bowel disease, ... ...

    Abstract STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5. Although STXBP2 mutations reportedly cause monogenic inflammatory bowel disease, the clinical course and underlying pathogenic mechanisms remain unclear. We identified a novel mutation in STXBP2 [c.1197delC, p.Ala400fs] in a boy with congenital intractable diarrhea and hemophagocytic lymphohistiocytosis (HLH). HLH was treated with intravenous prednisolone, cyclosporine, and dexamethasone palmitate. Hematopoietic stem cell transplantation (HSCT) along with prophylaxis for graft-versus-host-disease was performed at 5 months of age. Additionally, colonoscopies done before and after HSCT showed mild colitis with cryptitis. The patient showed elevated fecal calprotectin levels and persistent diarrhea even after HSCT and required partial parenteral nutrition. While anti-inflammatory treatment reduced diarrhea, it was not completely normalized even after HSCT, suggesting that the pathogenesis of inflammatory bowel disease associated with STXBP2 mutations involves both hyperinflammation and functional epithelial barrier defects.
    MeSH term(s) Humans ; Male ; Diarrhea ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Inflammatory Bowel Diseases/genetics ; Inflammatory Bowel Diseases/therapy ; Lymphohistiocytosis, Hemophagocytic/genetics ; Lymphohistiocytosis, Hemophagocytic/therapy ; Munc18 Proteins/genetics ; Mutation
    Chemical Substances Munc18 Proteins ; STXBP2 protein, human
    Language English
    Publishing date 2022-12-09
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1459903-x
    ISSN 1521-7035 ; 1521-6616
    ISSN (online) 1521-7035
    ISSN 1521-6616
    DOI 10.1016/j.clim.2022.109203
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody.

    Ochiai, Satoru / Hayakawa, Itaru / Ohashi, Eri / Hamano, Sho / Miyata, Yohane / Sakuma, Hiroshi / Hogetsu, Keita / Gocho, Yoshihiro / Ogura, Masao / Uchiyama, Toru / Abe, Yuichi

    Brain & development

    2022  Volume 44, Issue 9, Page(s) 630–634

    Abstract: Background: X-linked lymphoproliferative disease type 1 (XLP1) is a rare monogenic immune dysregulation disorder caused by a deficiency of a signaling lymphocyte activation molecule-associated protein (SAP). While many patients with XLP1 present with ... ...

    Abstract Background: X-linked lymphoproliferative disease type 1 (XLP1) is a rare monogenic immune dysregulation disorder caused by a deficiency of a signaling lymphocyte activation molecule-associated protein (SAP). While many patients with XLP1 present with fatal hemophagocytic lymphohistiocytosis upon Epstein Barr virus (EBV) infection, a small fraction present with limbic encephalitis in the absence of EBV infection. It is poorly understood why SAP deficiency may cause limbic encephalitis in XLP1.
    Case: A 12-year-old boy presented with seizures, changes in personality, memory loss, and cognitive deficits during treatment for interstitial pneumonia. A diagnosis of limbic encephalitis was made. Despite treatment against CD8+ T cell-mediated autoimmunity with intravenous methylprednisolone, dexamethasone, intravenous immunoglobulin, plasma exchange, cyclosporine, weekly etoposide, mycophenolate mofetil, and adalimumab, encephalitis progressed until the patient died after one month of treatment intitiation. Post-mortem genetic testing revealed a de novo SH2D1A truncating mutation. Tests for EBV infection were negative. Initial spinal fluid revealed markedly elevated protein levels, mild pleocytosis, and elevation of two chemokines (C-X-C motif chemokine ligand [CXCL] 10 and CXCL 13). Moreover, initial spinal fluid was tested positive for anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) autoantibody.
    Discussion: In XLP1-associated limbic encephalitis, anti-AMPAR autoantibody production by the dysregulated immune system due to SAP deficiency might be a pathogenic mechanism of central nervous system manifestations. In addition to the standard treatment for XLP1, targeted treatment against B-cell-mediated immunity might be indicated for patients with XLP1-associated limbic encephalitis.
    MeSH term(s) Autoantibodies ; Child ; Epstein-Barr Virus Infections/complications ; Herpesvirus 4, Human/genetics ; Herpesvirus 4, Human/metabolism ; Humans ; Limbic Encephalitis ; Lymphoproliferative Disorders ; Male ; alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid/metabolism
    Chemical Substances Anti-AMPAR antibody ; Autoantibodies ; alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (77521-29-0)
    Language English
    Publishing date 2022-06-29
    Publishing country Netherlands
    Document type Case Reports
    ZDB-ID 604822-5
    ISSN 1872-7131 ; 0387-7604
    ISSN (online) 1872-7131
    ISSN 0387-7604
    DOI 10.1016/j.braindev.2022.06.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top