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Familial HLH

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https://www.readbyqxmd.com/read/28692549/a-case-of-familial-hemophagocytic-lymphohistiocytosis-type-4-with-involvement-of-the-central-nervous-system-complicated-with-infarct
#1
Saliha Ciraci, Alper Ozcan, Mustafa M Ozdemir, Samuel C C Chiang, Bianca Tesi, Akif M Ozdemir, Musa Karakukcu, Turkan Patiroglu, Can Acipayam, Selim Doganay, Hakan Gumus, Ekrem Unal
BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit...
July 7, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28666847/eicosapentaenoic-acid-modulates-the-synergistic-action-of-creb1-and-id-e2a-family-members-in-the-rat-pup-brain-and-mouse-embryonic-stem-cells
#2
Maurizio Rossi, Martin Spichty, Lucilla Attorri, Chiara Distante, Clara Nervi, Serafina Salvati, Luigi Vitelli
The aim of this study was to investigate the molecular mechanism by which eicosapentaenoic acid (EPA) may exert neuroprotective effects through an "EPA- cyclic AMP response element-binding protein (CREB)" signaling pathway. The current study reveals that EPA modulates the exquisite interplay of interaction of CREB1 with the inhibitor of DNA binding (ID) and E2A family members, thereby delivering mechanistic insights into specific neural differentiation program. In this scenario, our work provides evidence for the capability of CREB1 to sequester ID:E2A family members in brain tissues and neural differentiating mouse embryonic stem cells (mESCs) through formation of a [CREB1]2:ID2:E47 tetrameric complex...
June 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28600178/a-novel-ghbee1-like-gene-of-cotton-causes-anther-indehiscence-in-transgenic-arabidopsis-under-uncontrolled-transcription-level
#3
Eryong Chen, Xiaoqian Wang, Qian Gong, Hamama Islam Butt, Yanli Chen, Chaojun Zhang, Zuoren Yang, Zhixia Wu, Xiaoyang Ge, Xianlong Zhang, Fuguang Li, Xueyan Zhang
Male-sterile lines are very important for selective breeding, and anther dehiscence defect is an effective way to generate male-sterile lines. Although several bHLH-family proteins in Arabidopsis have been characterized, little is known about the role of bHLH-family proteins in cotton. Here, we isolated a novel bHLH protein from cotton (Gossypium hirsutum), named GhBEE1-Like. Protein domain analysis showed that GhBEE1-Like contained a basic domain and an HLH domain. Subcellular localization analysis revealed that GhBEE1-Like was a nuclear-localized protein...
June 6, 2017: Gene
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#4
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28452182/local-injection-of-lenti-olig2-at-lesion-site-promotes-functional-recovery-of-spinal-cord-injury-in-rats
#5
Bo-Tao Tan, Long Jiang, Li Liu, Ying Yin, Ze-Ru-Xin Luo, Zai-Yun Long, Sen Li, Le-Hua Yu, Ya-Min Wu, Yuan Liu
AIMS: Olig2 is one of the most critical factors during CNS development, which belongs to b-HLH transcription factor family. Previous reports have shown that Olig2 regulates the remyelination processes in CNS demyelination diseases models. However, the role of Olig2 in contusion spinal cord injury (SCI) and the possible therapeutic effects remain obscure. This study aims to investigate the effects of overexpression Olig2 by lentivirus on adult spinal cord injury rats. METHODS: Lenti-Olig2 expression and control Lenti-eGFP vectors were prepared, and virus in a total of 5 μL (10(8) TU/mL) was locally injected into the injured spinal cord 1...
June 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28369379/localized-twist1-and-twist2-basic-domain-substitutions-cause-four-distinct-human-diseases-that-can-be-modeled-in-caenorhabditis-elegans
#6
Sharon Kim, Stephen R F Twigg, Victoria A Scanlon, Aditi Chandra, Tyler J Hansen, Arwa Alsubait, Aimee L Fenwick, Simon J McGowan, Helen Lord, Tracy Lester, Elizabeth Sweeney, Astrid Weber, Helen Cox, Andrew O M Wilkie, Andy Golden, Ann K Corsi
Twist transcription factors, members of the basic helix-loop-helix family, play crucial roles in mesoderm development in all animals. Humans have two paralogous genes, TWIST1 and TWIST2, and mutations in each gene have been identified in specific craniofacial disorders. Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332776/interferon-gamma-and-interleukin-10-polymorphisms-in-chinese-children-with-hemophagocytic-lymphohistiocytosis
#7
Qi An, Shao-Yan Hu, Cheng-Min Xuan, Ming-Wei Jin, Qiang Ji, Yi Wang
AIM: The aim of the study is to investigate the association of interferon gamma (IFN-γ) and interleukin-10 (IL-10) gene single nucleotide polymorphisms with the susceptibility of hemophagocytic lymphohistiocytosis (HLH) in Chinese children without known family history of HLH. PROCEDURE: Forty children with HLH and 160 age- and gender-matched healthy controls from Xuzhou Children's Hospital were enrolled in the study. Serum IFN-γ and IL-10 levels were measured by enzyme linked-immunosorbent assay...
March 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28328614/a-newborn-with-familial-hemophagocytic-lymphohistiocytosis-complicated-with-transfusion-associated-graft-versus-host-disease
#8
Ahmet Ozdemir, Tamer Gunes, Samuel C C Chiang, Ekrem Unal
Hemophagocytic lymphohistiocytosis (HLH) is characterized by activation of cytotoxic T and natural killer (NK) cells, and macrophages related to a spectrum of hyperinflammatory disorders. The clinical findings mainly include high fever, cytopenia, splenomegaly, phagocytosis, and proliferation of histiocytes in lymphoreticular tissue. To the best of our knowledge, transfusion-associated graft versus host disease (TA-GVHD) in a 13-day old male newborn with HLH is being reported first time in the literature. The aim of this report was to emphasize the importance of blood products irradiation in the prevention of the development of graft versus host disease especially among high-risk subjects such as newborns with HLH...
March 21, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28283651/tfe3-regulates-whole-body-energy-metabolism-in-cooperation-with-tfeb
#9
Nunzia Pastore, Anna Vainshtein, Tiemo J Klisch, Andrea Armani, Tuong Huynh, Niculin J Herz, Elena V Polishchuk, Marco Sandri, Andrea Ballabio
TFE3 and TFEB are members of the MiT family of HLH-leucine zipper transcription factors. Recent studies demonstrated that they bind overlapping sets of promoters and are post-transcriptionally regulated through a similar mechanism. However, while Tcfeb knockout (KO) mice die during early embryonic development, no apparent phenotype was reported in Tfe3 KO mice. Thus raising the need to characterize the physiological role of TFE3 and elucidate its relationship with TFEB TFE3 deficiency resulted in altered mitochondrial morphology and function both in vitro and in vivo due to compromised mitochondrial dynamics...
May 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28188950/hemophagocytic-lymphohistiocytosis-in-a-neonate-case-report
#10
Pari Zarrini, Ziba Mosayebi, Asghar Ramyar, Hosein Dalili
 Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, occurring as either a familial disorder or a sporadic condition, in association with a variety of triggers. This article will introduce a neonate with HLH in Iran. We report a case of HLH presenting with respiratory distress and fever, hepatosplenomegaly, jaundice and pancytopenia on the second day of life. Typical clinical and laboratory findings were detected in the neonate. HLH was diagnosed according to HLH-2004 guidelines...
January 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28161232/-correctly-address-the-cause-of-hemophagocytic-lymphohistiocytosis
#11
M Penel-Page, B Ben Said, A Phan, L Hees, C Hartmann-Merlin, S Girard, Y Gillet, A Belot
Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe syndrome usually associated with a cytotoxicity deficiency, which leads to an excess of immune response driven by activated macrophages and cytotoxic T cells. In children, HLH can be genetic, as part of a familial lymphohistiocytosis, or secondary: the most frequent causes are systemic-onset juvenile idiopathic arthritis, hematological malignancies, and severe infections, especially with Ebstein-Barr virus or leishmaniosis. We report on the case of a 3-year-old girl with no past medical history, who presented inaugural Pseudomonas aeruginosa maxillary osteitis, with secondary HLH...
March 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28122577/the-id-protein-family-in-developmental-and-cancer-associated-pathways
#12
REVIEW
Cornelia Roschger, Chiara Cabrele
Inhibitors of DNA binding and cell differentiation (Id) proteins are members of the large family of the helix-loop-helix (HLH) transcription factors, but they lack any DNA-binding motif. During development, the Id proteins play a key role in the regulation of cell-cycle progression and cell differentiation by modulating different cell-cycle regulators both by direct and indirect mechanisms. Several Id-protein interacting partners have been identified thus far, which belong to structurally and functionally unrelated families, including, among others, the class I and II bHLH transcription factors, the retinoblastoma protein and related pocket proteins, the paired-box transcription factors, and the S5a subunit of the 26 S proteasome...
January 25, 2017: Cell Communication and Signaling: CCS
https://www.readbyqxmd.com/read/28069895/brassinosteroid-induced-transcriptional-repression-and-dephosphorylation-dependent-protein-degradation-negatively-regulate-bin2-interacting-aif2-a-br-signaling-negative-regulator-bhlh-transcription-factor
#13
Yoon Kim, Ji-Hye Song, Seon-U Park, You-Seung Jeong, Soo-Hwan Kim
Brassinosteroids (BRs) are plant polyhydroxy-steroids that play important roles in plant growth and development via extensive signal integration through direct interactions between regulatory components of different signaling pathways. Recent studies have shown that diverse helix-loop-helix/basic helix-loop-helix (HLH/bHLH) family proteins are actively involved in control of BR signaling pathways and interact with other signaling pathways. In this study, we show that ATBS1-INTERACTING FACTOR 2 (AIF2), a nuclear-localized atypical bHLH transcription factor, specifically interacts with BRASSINOSTEROID-INSENSITIVE 2 (BIN2) among other BR signaling molecules...
February 1, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/27925643/primary-and-secondary-hemophagocytic-lymphohistiocytosis-have-different-patterns-of-t-cell-activation-differentiation-and-repertoire
#14
COMPARATIVE STUDY
Sandra Ammann, Kai Lehmberg, Udo Zur Stadt, Gritta Janka, Anne Rensing-Ehl, Christian Klemann, Maximilian Heeg, Sebastian Bode, Ilka Fuchs, Stephan Ehl
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening inflammatory syndrome characterized by hyperactivation of lymphocytes and histiocytes. T cells play a key role in HLH pathogenesis, but their differentiation pattern is not well characterized in patients with active HLH. We compared T-cell activation patterns between patients with familial HLH (1°HLH), 2°HLH without apparent infectious trigger (2°HLH) and 2°HLH induced by a viral infection (2°V-HLH). Polyclonal CD8(+) T cells are highly activated in 1°HLH and 2°V-HLH, but less in 2°HLH as assessed by HLA-DR expression and marker combination with CD45RA, CCR7, CD127, PD-1 and CD57...
February 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/27815752/hematopoietic-stem-cell-transplantation-for-xiap-deficiency-in-japan
#15
Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane
BACKGROUND: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH...
November 4, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27612865/-hemophagocytic-lymphohistiocytosis-a-diagnostic-challenge-on-the-icu
#16
REVIEW
G Lachmann, P La Rosée, T Schenk, F M Brunkhorst, C Spies
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) has well been studied as a genetic disorder in children (primary HLH). Mutations in the regulatory complex of the cellular immune synapse lead to a loss of function of cytotoxic T‑cells and natural killer cells with excessive inflammation based on a cytokine storm. During the last decade, an increasing number of adult HLH patients without a family history of HLH (secondary or acquired HLH) have been reported. Various triggers - infections, malignancies or autoimmune diseases - result in an acquired loss of function of these cells and a sepsis-like disease...
October 2016: Der Anaesthesist
https://www.readbyqxmd.com/read/27602064/successful-allogeneic-hematopoietic-stem-cell-transplantation-in-a-boy-with-x-linked-inhibitor-of-apoptosis-deficiency-presenting-with-hemophagocytic-lymphohistiocytosis-a-case-report
#17
Ming-Yan Jiang, Xia Guo, Shu-Wen Sun, Qiang Li, Yi-Ping Zhu
X-linked inhibitor of apoptosis (XIAP) deficiency, also known as X-linked lymphoproliferative syndrome type 2 (XLP2), is a rare inherited primary immunodeficiency resulting from the XIAP (also known as BIRC4) mutation. XIAP deficiency is mainly associated with familial hemophagocytic lymphohistiocytosis (HLH) phenotypes, and genetic testing is crucial in diagnosing this syndrome. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the only successful strategy for the treatment of this disease; however, a limited number of studies has been published concerning the outcomes of allogeneic HSCT in patients with XIAP deficiency...
September 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27565627/successful-treatment-of-recurrent-cns-disease-post-bone-marrow-transplant-in-children-with-familial-hemophagocytic-lymphohistiocytosis
#18
Allison M Bock, Michelle LeVeque, Bruce Camitta, Julie-An Talano
BACKGROUND: Central nervous system (CNS) involvement is a major cause of morbidity and mortality in patients with hemophagocytic lymphohistiocytosis (HLH). Current standard of care for CNS disease utilizes high-dose systemic dexamethasone plus intrathecal methotrexate and hydrocortisone prior to transplantation. However, the morbidity and mortality remains high and there are no clear guidelines posttransplantation for screening and treatment of CNS disease. PROCEDURE: We report a single-center retrospective case series of five patients with familial HLH (FHLH) who had CNS involvement post-bone marrow transplantation (BMT)...
December 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27535855/-the-significance-of-pedigree-genetic-screening-and-rapid-immunological-parameters-in-the-diagnosis-of-primary-hemophagocytic-lymphohistiocytosis
#19
J Zhang, Y N Wang, J S Wang, L Wu, N Wei, L Fu, Z Gao, J H Chen, R J Pei, Z Wang
OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations...
July 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27516033/hemophagocytic-lymphohistiocytosis-a-rare-complication-of-autologous-stem-cell-transplantation
#20
Andrei ColiŢă, Anca ColiŢă, Camelia Marioara Dobrea, Alina Daniela Tănase, Carmen Şaguna, Cecilia Gabriela Ghimici, Raluca Mihaela Manolache, Silvana Angelescu, Doina Barbu, Florentina Grădinaru, Anca Roxana Lupu
Hemophagocytic lymphohistiocytosis (HLH) is a very severe and rare syndrome of pathologic immune activation characterized by cytopenia and clinical signs and symptoms of extreme inflammation. HLH is usually fatal without treatment so that accurate and timely diagnosis is very important. The syndrome occurs as a familial disorder (familial HLH - FLH) or as an acquired condition (secondary - sHLH) in association with a variety of pathologic states: infections, rheumatologic, malignant or metabolic diseases. Malignancy associated HLH is primarily reported in T÷NK (natural killer)-cell malignancies but also in B-cell neoplasms and other types of cancer...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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