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Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages, characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). Signs and symptoms The onset of HLH occurs before the age of one year in approximately 70 percent of cases. Familial HLH should be suspected if siblings are diagnosed with HLH or if symptoms recur when therapy has been stopped. Familial HLH is an autosomal recessive disease, hence each sibling of a child with familial ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Micrograph
A micrograph or photomicrograph is a photograph or digital image taken through a microscope or similar device to show a magnified image of an object. This is opposed to a macrograph or photomacrograph, an image which is also taken on a microscope but is only slightly magnified, usually less than 10 times. Micrography is the practice or art of using microscopes to make photographs. A micrograph contains extensive details of microstructure. A wealth of information can be obtained from a simple micrograph like behavior of the material under different conditions, the phases found in the system, failure analysis, grain size estimation, elemental analysis and so on. Micrographs are widely used in all fields of microscopy. Types Photomicrograph A light micrograph or photomicrograph is a micrograph prepared using an optical microscope, a process referred to as ''photomicroscopy''. At a basic level, photomicroscopy may be performed simply by connecting a camera to a microscope, th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jaundice
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. The prevalence of jaundice in adults is rare, while jaundice in babies is common, with an estimated 80% affected during their first week of life. The most commonly associated symptoms of jaundice are itchiness, pale feces, and dark urine. Normal levels of bilirubin in blood are below 1.0 mg/ dl (17 μmol/ L), while levels over 2–3 mg/dl (34–51 μmol/L) typically result in jaundice. High blood bilirubin is divided into two types – unconjugated and conjugated bilirubin. Causes of jaundice vary from relatively benign to potentially fatal. High unconjugated bilirubin may be due to excess red blood cell breakdown, large bruises, genetic conditions s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Perforin
Perforin-1 is a protein that in humans is encoded by the ''PRF1'' gene and the ''Prf1'' gene in mice. Function Perforin is a pore forming cytolytic protein found in the granules of cytotoxic T lymphocytes (CTLs) and natural killer cells (NK cells). Upon degranulation, perforin molecules translocate to the target cell with the help of calreticulin, which works as a chaperone protein to prevent perforin from degrading. Perforin then binds to the target cell's plasma membrane via membrane phospholipids while phosphatidylcholine binds calcium ions to increase perforin's affinity to the membrane. Perforin oligomerises in a Ca2+ dependent manner to form pores on the target cell. The pore formed allows for the passive diffusion of a family of pro-apoptotic proteases, known as the granzymes, into the target cell. The lytic membrane-inserting part of perforin is the MACPF domain. This region shares homology with cholesterol-dependent cytolysins from Gram-positive bacteria. Perforin has ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LYST
Lysosomal trafficking regulator is a vesicular transport protein associated with Chédiak–Higashi syndrome. In melanocytic cells LYST gene expression may be regulated by MITF Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor .... References External links GeneReviews/NCBI/NIH/UW entry on Chediak-Higashi Syndrome * {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STXBP2
Syntaxin-binding protein 2 is a protein that in humans is encoded by the ''STXBP2'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... References Further reading * * * * * * * * * * * * * * * * External links PDBe-KB provides an overview of all the structure information available in the PDB for Human Syntaxin-binding protein 2 {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene. Function The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. The RAB27A gene is regulated by the Microphthalmia-associated transcription factor. Interactions RAB27A has been shown to interact with: * EXPH5, * MYO5A, * RPH3AL Rab effector Noc2 is a protein that in humans is encoded by the ''RPH3AL'' gene. Interactions RPH3AL has been shown to interact with RAB27A Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene. Function ... * SYTL1, and * SYTL2. See also * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STX11
Syntaxin 11, also known as STX11, is a human gene that is a member of the t-SNARE family. Interactions STX11 has been shown to interact with SNAP25 and SNAP23. See also * Hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a ... References Further reading * * * * * * * * * * * * {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UNC13D
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the ''UNC13D'' gene. Function Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Munc13-4 is an essential protein in the intracellular trafficking and exocytosis of lytic granules. It is targeted to CD63 positive secretory lysosomes. The C-terminal C2 domain of the protein is involved in this process. Clinical significance Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis (British spelling), and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dengue Virus
''Dengue virus'' (DENV) is the cause of dengue fever. It is a mosquito-borne, single positive-stranded RNA virus of the family ''Flaviviridae''; genus ''Flavivirus''. Four serotypes of the virus have been found, a reported fifth has yet to be confirmed,Dwivedi, V. D., Tripathi, I. P., Tripathi, R. C., Bharadwaj, S., & Mishra, S. K. (2017). Genomics, proteomics and evolution of ''Dengue virus''. Briefings in functional genomics.16(4): 217–227, https://doi.org/10.1093/bfgp/elw040 all of which can cause the full spectrum of disease. Nevertheless, scientists' understanding of dengue virus may be simplistic as, rather than distinct antigenic groups, a ''continuum'' appears to exist. This same study identified 47 strains of ''dengue virus''. Additionally, coinfection with and lack of rapid tests for ''zika virus'' and ''chikungunya'' complicate matters in real-world infections. ''Dengue virus'' has increased dramatically within the last 20 years, becoming one of the worst mosquito- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pathogen
In biology, a pathogen ( el, πάθος, "suffering", "passion" and , "producer of") in the oldest and broadest sense, is any organism or agent that can produce disease. A pathogen may also be referred to as an infectious agent, or simply a germ. The term ''pathogen'' came into use in the 1880s. Typically, the term ''pathogen'' is used to describe an ''infectious'' microorganism or agent, such as a virus, bacterium, protozoan, prion, viroid, or fungus. Small animals, such as helminths and insects, can also cause or transmit disease. However, these animals are usually referred to as parasites rather than pathogens. The scientific study of microscopic organisms, including microscopic pathogenic organisms, is called microbiology, while parasitology refers to the scientific study of parasites and the organisms that host them. There are several pathways through which pathogens can invade a host. The principal pathways have different episodic time frames, but soil has the longest ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Natural Killer Cell
Natural killer cells, also known as NK cells or large granular lymphocytes (LGL), are a type of cytotoxic lymphocyte critical to the innate immune system that belong to the rapidly expanding family of known innate lymphoid cells (ILC) and represent 5–20% of all circulating lymphocytes in humans. The role of NK cells is analogous to that of cytotoxic T cells in the vertebrate adaptive immune response. NK cells provide rapid responses to virus-infected cell and other intracellular pathogens acting at around 3 days after infection, and respond to tumor formation. Typically, immune cells detect the major histocompatibility complex (MHC) presented on infected cell surfaces, triggering cytokine release, causing the death of the infected cell by lysis or apoptosis. NK cells are unique, however, as they have the ability to recognize and kill stressed cells in the absence of antibodies and MHC, allowing for a much faster immune reaction. They were named "natural killers" because ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
