scholarly journals Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19

2019 ◽  
Vol 09 (01) ◽  
pp. 066-068
Author(s):  
Femitha Pournami ◽  
Swati Upadhyay ◽  
Anand Nandakumar ◽  
Jyothi Prabhakar ◽  
Naveen Jain
Keyword(s):  
Immune System ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Laboratory Findings ◽  
Rare Mutation ◽  
Familial Hemophagocytic Lymphohistiocytosis ◽  
Immune System Activation ◽  
Missense Variation ◽  
System Activation ◽  
Progressive Disorder ◽  
Exon 19

AbstractFamilial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features and supportive laboratory findings, who had a homozygous missense variation in exon 19 of STXBP2 that results in an amino acid substitution of aspartic acid for glycine. Adding to the currently scant literature on this variation may contribute to the database pool and help to confirm assertion of pathogenicity in FHLH.

scholarly journals Hemophagocytic Lymphohistiocytosis in a Patient With Advanced HIV and Cytomegalovirus Infection

2020 ◽  
Vol 8 ◽  
pp. 232470962090696
Author(s):  
Amir Anabtawi ◽  
Reem Alkilany ◽  
Mary E. Lacy
Keyword(s):  
Immune System ◽  
Early Detection ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Cytomegalovirus Infection ◽  
Autoimmune Disorders ◽  
Special Populations ◽  
Immune System Activation ◽  
System Activation

Hemophagocytic lymphohistiocytosis (HLH) is a rare, aggressive, and, if not treated, fatal disorder that is characterized by excessive immune system activation. This disorder can be precipitated by different triggers including malignancies, infections, and autoimmune disorders. Diagnosis is made by fulfilling criteria that was last updated in 2004, and treatment frequently includes management of the underlying trigger but can also include chemotherapy. In this article, we report a case of HLH in a 27-year-old male, who had been diagnosed with advanced untreated HIV, who presented to the hospital with fever and generalized fatigue with no obvious etiology. Infectious workup revealed cytomegalovirus viremia, and the patient met HLH criteria with impressive hyperferritinemia of 15 432 ng/mL. The patient was started on treatment for cytomegalovirus infection that led to resolution of HLH. Our report highlights the importance of early detection of HLH in special populations, and that treating the presumptive trigger can lead to resolution of HLH.

scholarly journals Balloon cells promote immune system activation in focal cortical dysplasia type 2B

2021 ◽  
Author(s):  
Till S. Zimmer ◽  
Diede W.M. Broekaart ◽  
Mark Luinenburg ◽  
Caroline Mijnsbergen ◽  
Jasper J. Anink ◽  
...  
Keyword(s):  
Immune System ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Balloon Cells ◽  
Immune System Activation ◽  
System Activation

scholarly journals Expression of Phosphocitrate-Targeted Genes in Osteoarthritis Menisci

2014 ◽  
Vol 2014 ◽  
pp. 1-17 ◽  
Author(s):  
Yubo Sun ◽  
David R. Mauerhan ◽  
Nury M. Steuerwald ◽  
Jane Ingram ◽  
Jeffrey S. Kneisl ◽  
...  
Keyword(s):  
Immune System ◽  
Molecular Mechanisms ◽  
Fibroblast Growth Factor Receptor ◽  
Collagen Type ◽  
Skeletal Development ◽  
Growth Factor Receptor ◽  
Type Ii ◽  
Immune System Activation ◽  
System Activation ◽  
Disease Modifying

Phosphocitrate (PC) inhibited calcium crystal-associated osteoarthritis (OA) in Hartley guinea pigs. However, the molecular mechanisms remain elusive. This study sought to determine PC targeted genes and the expression of select PC targeted genes in OA menisci to test hypothesis that PC exerts its disease modifying activity in part by reversing abnormal expressions of genes involved in OA. We found that PC downregulated the expression of numerous genes classified in immune response, inflammatory response, and angiogenesis, including chemokine (C-C motif) ligand 5, Fc fragment of IgG, low affinity IIIb receptor (FCGR3B), and leukocyte immunoglobulin-like receptor, subfamily B member 3 (LILRB3). In contrast, PC upregulated the expression of many genes classified in skeletal development, including collagen type II alpha1, fibroblast growth factor receptor 3 (FGFR3), and SRY- (sex determining region Y-) box 9 (SOX-9). Immunohistochemical examinations revealed higher levels of FCGR3B and LILRB3 and lower level of SOX-9 in OA menisci. These findings indicate that OA is a disease associated with immune system activation and decreased expression of SOX-9 gene in OA menisci. PC exerts its disease modifying activity on OA, at least in part, by targeting immune system activation and the production of extracellular matrix and selecting chondroprotective proteins.

A mechanistic study of immune system activation by fusion of antigens with the ligand-binding domain of CTLA4

2006 ◽  
Vol 55 (12) ◽  
pp. 1504-1514 ◽  
Author(s):  
Dhanalakshmi Chinnasamy ◽  
Matt Tector ◽  
Nachimuthu Chinnasamy ◽  
Kate Dennert ◽  
Karen M. Kozinski ◽  
...  
Keyword(s):  
Immune System ◽  
Ligand Binding ◽  
Binding Domain ◽  
Ligand Binding Domain ◽  
Mechanistic Study ◽  
Immune System Activation ◽  
System Activation

scholarly journals Deoxycorticosterone acetate-salt hypertension activates placental growth factor in the spleen to couple sympathetic drive and immune system activation

2018 ◽  
Vol 114 (3) ◽  
pp. 456-467 ◽  
Author(s):  
Marialuisa Perrotta ◽  
Andrea Lori ◽  
Lorenzo Carnevale ◽  
Stefania Fardella ◽  
Giuseppe Cifelli ◽  
...  
Keyword(s):  
Immune System ◽  
Growth Factor ◽  
Placental Growth Factor ◽  
Deoxycorticosterone Acetate ◽  
Immune System Activation ◽  
Acetate Salt ◽  
Salt Hypertension ◽  
System Activation

Abstract P145: Renal Inflammation and Injury is Associated with Increased Lymphangiogenesis in Hypertension

Hypertension ◽  
2016 ◽  
Vol 68 (suppl_1) ◽  
Author(s):  
Sterling C Kneedler ◽  
Lauren Phillips ◽  
Kayla R Hudson ◽  
Katharine M Beckman ◽  
Alan R Parrish ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Immune System ◽  
Immune Cells ◽  
Lymphatic Vessels ◽  
Macrophage Infiltration ◽  
Shr Rats ◽  
Renal Inflammation ◽  
Immune System Activation ◽  
System Activation ◽  
Fischer Rats

Hypertension is associated with immune system activation and inflammation. Renal infiltration of both innate and adaptive immune cells contributes to injury, dysfunction, and increased blood pressure. Activated immune cells that exit blood vessels into the interstitium then travel through lymphatic vessels to draining lymph nodes where they signal to other immune cells to increase the immune response. It is unknown how renal lymphatic vessels change in the context of hypertension, immune system activation, inflammation, and injury. We hypothesized that renal macrophage infiltration, inflammation, and injury would significantly increase lymphangiogenesis in various strains of rats. SHR rats that exhibit hypertension and renal injury (SHR-A3 strain) had significantly increased numbers of renal lymphatic vessels at 40 weeks of age compared to WKY controls (total of 3 fields of view: 52 ± 1 vs. 28 ± 1; p<0.05). This was associated with increased renal macrophage infiltration. SHR rats that exhibit hypertension but minimal renal injury (SHR-B2 strain) had significantly less renal lymphatic vessel numbers compared to WKY controls (25 ± 2 vs. 28 ± 1; p<0.05) and normal levels of macrophages. The signals for lymphangiogenesis, VEGF-C and its receptor VEGF-R3, were both increased significantly at the protein level in the kidneys of SHR-A3 rats at 18 weeks but not different in the kidneys of SHR-B2 rats compared to WKY controls. To test whether the increased lymphangiogensis is due to hypertension and/or renal inflammation and injury, we obtained kidneys from Fischer 344 rats that exhibit normal blood pressure but develop renal inflammation and injury as they age. Compared to kidneys from control 4-month old Fischer rats, kidneys from 20-month and 24-month old Fischer rats had significantly increased numbers of lymphatic vessels (32 ± 3 vs. 74 ± 1 vs. 110 ± 6, respectively; p<0.05) and this was also associated with increased macrophage infiltration. Protein levels of VEGF-C and VEGF-R3 were increased significantly in 20-month old Fischer rats compared to 4-month old controls. These data together demonstrate that renal immune cell infiltration, inflammation, and injury increases lymphangiogenesis.

Immune System Activation in Perioperative Thrombectomy Patients: Preliminary Retrospective Study

2019 ◽  
Vol 128 ◽  
pp. e966-e969
Author(s):  
Skylar Trott ◽  
Olga Vsevolozhskaya ◽  
Keith Pennypacker ◽  
Abdulnasser Alhajeri ◽  
Justin F. Fraser
Keyword(s):  
Immune System ◽  
Retrospective Study ◽  
Immune System Activation ◽  
System Activation
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