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Journal articles on the topic 'Hereditary immunity'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Heidari, Alireza, Katrina Schmitt, Maria Henderson, and Elizabeth Besana. "Hereditary immunity in cancer." International Journal of Advanced Chemistry 8, no. 1 (2020): 94. http://dx.doi.org/10.14419/ijac.v8i1.30607.

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Cancer is one of the malignant diseases and millions of people worldwide die from cancer annually. Breast cancer diagnosis requires the analysis of images and attributes as well as collecting many clinical and mammography variables. In diagnosis of breast cancer, it is im-portant to determine whether a tumor is benign or malignant. The information about breast cancer risk prediction along with the type of tu-mor are crucial for patients and effective medical decision making. An ideal diagnostic system could effectively distinguish between benign and malignant cells; however, such a system has

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Rumyantsev, Sergey N., Vil K. Gerasimov, Jergy Grzezczuk, et al. "Hereditary Immunity and the Origin of Atherosclerosis." Open Journal of Immunology 04, no. 01 (2014): 14–21. http://dx.doi.org/10.4236/oji.2014.41003.

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Bodar, Evelien J., Joost P. H. Drenth, Jos W. M. van der Meer, and Anna Simon. "Dysregulation of innate immunity: hereditary periodic fever syndromes." British Journal of Haematology 144, no. 3 (2009): 279–302. http://dx.doi.org/10.1111/j.1365-2141.2008.07036.x.

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Kastner, Daniel L. "Hereditary Periodic Fever Syndromes." Hematology 2005, no. 1 (2005): 74–81. http://dx.doi.org/10.1182/asheducation-2005.1.74.

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Abstract The hereditary periodic fevers are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Recent data indicate that these illnesses represent inborn errors in the regulation of innate immunity. Pyrin, the protein mutated in familial Mediterranean fever, defines an N-terminal domain found in a large family of proteins involved in inflammation and apoptosis. Through this domain pyrin may play a role in the regulation of interleukin (IL)-1β, nuclear factor (NF)-κB, and leukocyte apoptosis. Cryopyrin/NALP3, another protein in this family, is

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Suspitsyn, E., M. Mahova, and E. Imyanitov. "MALIGNANT TUMORS ASSOCIATED WITH HEREDITARY IMMUNODEFICIENCIES." Problems in oncology 64, no. 1 (2020): 7–14. http://dx.doi.org/10.37469/0507-3758-2018-64-1-7-14.

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Malignant tumors are often found in patients with hereditary defects of immunity and are one of the main causes of death of such patients. The increased risk of developing tumors appears to be due to the weakening of antitumor surveillance and vulnerability to oncogenic viruses. The presence of primary immunodeficiency in a patient with an oncological disease can affect the tactics of treatment. Expanding the possibilities of primary immunodeficiency therapy dictates the need for timely differential diagnosis of hereditary immunodeficiencies.

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Stefanova, Deborah, Antoan Raychev, Joao Arezes, et al. "Endogenous hepcidin and its agonist mediate resistance to selected infections by clearing non–transferrin-bound iron." Blood 130, no. 3 (2017): 245–57. http://dx.doi.org/10.1182/blood-2017-03-772715.

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Key Points In mouse models, hepcidin participates in innate immunity by controlling NTBI. NTBI-dependent infections can be treated with hepcidin agonists in mouse models of hereditary hemochromatosis or parenteral iron overload.

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Isfandiyar Sadigov, Gunay, and Gulustan Alihuseyin Azizova. "İMMUNPROFILAKTIKANIN TƏŞKILININ ƏSASLARI, ONUN EFFEKTIVLIYININ VƏ TƏHLÜKƏSIZLIYININ QIYMƏTLƏNDIRILMƏSI." NATURE AND SCIENCE 04, no. 05 (2020): 37–39. http://dx.doi.org/10.36719/2707-1146/05/37-39.

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The purpose of this article is to investigate the growing number of viral diseases, to gather information on what measures should be taken against them and to educate the population. The immunological structure of the population is formed due to increased insensitivity to pathogenic microorganisms, which occurs through the formation of natural immunity (inherited or acquired as a result of an infectious process) and artificial immunity (created through immunoprophylaxis). The level of the immunological structure of the population affects the direction (trend) of the epidemic process. The highe

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Rumyantsev, Sergey N. "Functions of hereditary immunity and xenogamy in cancer origin and pandemic spread." Open Journal of Immunology 01, no. 02 (2011): 27–40. http://dx.doi.org/10.4236/oji.2011.12004.

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Svyd, I. V., I. I. Obod, O. S. Maltsev, et al. "Method for increasing noise immunity of radar "friend or foe" identification systems under the action of intentional correlated interference." Radiotekhnika, no. 205 (July 2, 2021): 154–60. http://dx.doi.org/10.30837/rt.2021.2.205.16.

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The paper analyzes the principles of construction and structure of "friend or foe" identification systems. It is revealed, that the party, interested in the existing system, has the ability of unauthorized use of this information resource for long-range determination of air objects coordinates, on the one hand, and distortion of information of this information resource, on the other hand, which leads to unpredictable consequences. It is shown, that the most vulnerable place in the "friend or foe" identification systems is the aircraft transponder, which significantly affects noise stability an

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Burmistrz, Michał, and Krzysztof Pyrc. "CRISPR-Cas Systems in Prokaryotes." Polish Journal of Microbiology 64, no. 3 (2015): 193–202. http://dx.doi.org/10.5604/01.3001.0009.2114.

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Prokaryotic organisms possess numerous strategies that enable survival in hostile conditions. Among others, these conditions include the invasion of foreign nucleic acids such as bacteriophages and plasmids. The clustered regularly interspaced palindromic repeats-CRISPR-associated proteins (CRISPR-Cas) system provides the majority of bacteria and archaea with adaptive and hereditary immunity against this threat. This mechanism of immunity is based on short fragments of foreign DNA incorporated within the hosts genome. After transcription, these fragments guide protein complexes that target for

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Tanaka, Hikari, and Hitoshi Okazawa. "PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity." International Journal of Molecular Sciences 23, no. 11 (2022): 6227. http://dx.doi.org/10.3390/ijms23116227.

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The idea that a common pathology underlies various neurodegenerative diseases and dementias has attracted considerable attention in the basic and medical sciences. Polyglutamine binding protein-1 (PQBP1) was identified in 1998 after a molecule was predicted to bind to polyglutamine tract amino acid sequences, which are associated with a family of neurodegenerative disorders called polyglutamine diseases. Hereditary gene mutations of PQBP1 cause intellectual disability, whereas acquired loss of function of PQBP1 contributes to dementia pathology. PQBP1 functions in innate immune cells as an int

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Rigante, Donato, Giuseppe Lopalco, Antonio Vitale, et al. "Untangling the Web of Systemic Autoinflammatory Diseases." Mediators of Inflammation 2014 (2014): 1–15. http://dx.doi.org/10.1155/2014/948154.

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The innate immune system is involved in the pathophysiology of systemic autoinflammatory diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of proinflammatory cytokines, such as interleukin-1βand tumor necrosis factor-α, in which autoreactive T-lymphocytes and autoantibodies are indeed absent. A widely deranged innate immunity leads to overactivity of proinflammatory cytokines and subsequent multisite inflammatory symptoms depicting various conditions, such as hereditary periodic fevers, granulomatous disorders, and pyogenic diseases, collectively described in

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Sato, Yuki, Eisaku Ogawa, and Ryuhei Okuyama. "Role of Innate Immune Cells in Psoriasis." International Journal of Molecular Sciences 21, no. 18 (2020): 6604. http://dx.doi.org/10.3390/ijms21186604.

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Psoriasis is a chronic inflammatory skin condition caused by a combination of hereditary and environmental factors. Its development is closely related to the adaptive immune response. T helper 17 cells are major IL-17-producing cells, a function that plays an important role in the pathogenesis of psoriasis. However, recent findings have demonstrated that innate immune cells also contribute to the development of psoriasis. Innate lymphoid cells, γδ T cells, natural killer T cells, and natural killer cells are activated in psoriasis, contributing to disease pathology through IL-17-dependent and

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Bowen, Charles M., Krishna M. Sinha, and Eduardo Vilar. "Immunoprevention Strategies for Colorectal Cancer in Lynch Syndrome Carriers." Cancer Journal 30, no. 5 (2024): 352–56. http://dx.doi.org/10.1097/ppo.0000000000000738.

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Abstract The immune revolution that swept the field of oncology in the mid-2010s with the advent of checkpoint inhibitors has led to a paradigm shift in approaches toward adapting new cancer prevention modalities. Cancer vaccines have emerged from this era with astounding potential as a durable intervention to prevent cancers especially for patients with hereditary susceptibilities such as Lynch syndrome carriers. This review covers new insights in the immunoprevention landscape for patients living with Lynch syndrome including highlights ranging from clinical trials exploring the use of chemo

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Fofanova, O. V., V. A. Peterkova, I. V. Kryukova, et al. "Somatotropic insufficiency in children and antip1tu1tary antibodies as characteristics of humoral immunity in patients and their parents." Problems of Endocrinology 42, no. 3 (1996): 10–15. http://dx.doi.org/10.14341/probl12035.

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Antibodies to adeno-pituitary cell surface antigen (PCSA) were studied in 40 untreated children with idiopathic growth hormone (GH) deficiency to elucidate the role of autoimmune disorders in the pathogenesis of GH deficiency. Antibodies to rat PCSA were assayed by ELISA. PCSA was detected in 15% of patients with GH deficiency, in contrast to that in healthy children and children with autoimmune thyroid diseases. The authors consider that in some cases GH deficiency may be caused by autoimmune hypophysitis. A family study revealed PCSA in 25% of mothers of patients with GH deficiency. In a pop

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Chabib, Lutfi, Wildan Khairi Muhtadi, Muhammad Ikhwan Rizki, Rifazul Aulia Rahman, Mohamad Rahman Suhendri, and Arif Hidayat. "Potential medicinal plants for improve the immune system from Borneo Island and the prospect to be developed as nanomedicine." MATEC Web of Conferences 154 (2018): 04006. http://dx.doi.org/10.1051/matecconf/201815404006.

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The immune system is a combination of cells, molecules, and tissues that play a role in preventing, detecting and eliminating a pathogen that enters the body. Indonesian society, hereditary and traditionally used medicinal plants (herbs) to increase immunity or immune system that fight the bacterias and pathogens. This paper aims to review the potential plants for immunomodulator from Borneo Island and the prospect to be developed as nanomedicines. The review is made using online and offline literature. Based on the literature, the immune system can be improved by various compounds from plants

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Rigante, Donato. "The Golden Card of Interleukin-1 Blockers in Systemic Inflammasomopathies of Childhood." International Journal of Molecular Sciences 26, no. 5 (2025): 1872. https://doi.org/10.3390/ijms26051872.

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A growing number of systemic hereditary inflammatory diseases characterized by periodic fevers and elevated acute-phase proteins during flares has been linked to deregulated inflammasome function and excessive bioactivity of interleukin (IL)-1. All these conditions respond, at varying degrees, to the specific blockade of IL-1. The remarkable progress with IL-1 antagonists in treating hereditary inflammasome-based disorders has offered new hope for several patients with further non-hereditary autoinflammatory conditions from multifactorial backgrounds. The effectiveness of the IL-1 blockade has

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Correa, Ricardo G., Snezana Milutinovic, and John C. Reed. "Roles of NOD1 (NLRC1) and NOD2 (NLRC2) in innate immunity and inflammatory diseases." Bioscience Reports 32, no. 6 (2012): 597–608. http://dx.doi.org/10.1042/bsr20120055.

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NOD1 {nucleotide-binding oligomerization domain 1; NLRC [NOD-LRR (leucine-rich repeat) family with CARD (caspase recruitment domain) 1]} and NOD2 (NLRC2) are among the most prominent members of the NLR (NOD-LRR) family –proteins that contain nucleotide-binding NACHT domains and receptor-like LRR domains. With over 20 members identified in humans, NLRs represent important components of the mammalian innate immune system, serving as intracellular receptors for pathogens and for endogenous molecules elaborated by tissue injury. NOD1 and NOD2 proteins operate as microbial sensors through the recog

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Zaitseva, E. V. "AWARENESS OF DOCTORS AND PATIENTS ABOUT INBORN ERRORS OF IMMUNITY." KAZAN SOCIALLY-HUMANITARIAN BULLETIN 11, no. 4 (2020): 16–21. http://dx.doi.org/10.24153/2079-5912-2020-11-4-16-21.

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The immune system protects the body. When defenses are compromised, people with hereditary immunological disorders become vulnerable to many life-threatening infections. Inborn errors of immunity (primary immunodeficiencies), manifested in patients in increased susceptibility to infectious diseases, autoimmune diseases, allergies, and malignant neoplasms. Today, this group of diseases is still considered quite rare. However, the development of diagnostic technologies expands the list of nosologies associated with inborn errors of immunity. Neonatal screening for inborn errors of immunity could

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Gevaert, Andreas B., Volker Adams, Martin Bahls, et al. "Towards a personalised approach in exercise-based cardiovascular rehabilitation: How can translational research help? A ‘call to action’ from the Section on Secondary Prevention and Cardiac Rehabilitation of the European Association of Preventive Cardiology." European Journal of Preventive Cardiology 27, no. 13 (2019): 1369–85. http://dx.doi.org/10.1177/2047487319877716.

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The benefit of regular physical activity and exercise training for the prevention of cardiovascular and metabolic diseases is undisputed. Many molecular mechanisms mediating exercise effects have been deciphered. Personalised exercise prescription can help patients in achieving their individual greatest benefit from an exercise-based cardiovascular rehabilitation programme. Yet, we still struggle to provide truly personalised exercise prescriptions to our patients. In this position paper, we address novel basic and translational research concepts that can help us understand the principles unde

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Cherniak, N. S. "THE ABILITY OF HOLSTEIN BREED SIRES TO TRANSMIT A HIGH IMMUNE RESPONSE TO THEIR OFFSPRING IN CASE OF DISEASE." Animal Breeding and Genetics 69 (June 13, 2025): 134–41. https://doi.org/10.31073/abg.69.14.

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Genomic selection allows animals to be selected based on their genetic information, which enables more accurate prediction of hereditary traits. This shortens the selection interval, improves reproductive efficiency, reduces the cost of raising unproductive individuals, and accelerates genetic progress in the population. The research was conducted at the dairy production complex LLC “Ostriykivske,” where 54 Holstein heifers were selected for genomic evaluation. Genomic testing revealed significant differences in immune indicators among the daughters of different sires, confirming the genetic i

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Argalácsová, Soňa, Ľudmila Křížová, Martin Matějů, Dominika Svobodová, and Michal Vočka. "Radiation-Induced Lymphopoenia and Treatment Outcome in Hereditary Breast Cancer Patients." Folia Biologica 69, no. 3 (2023): 91–98. http://dx.doi.org/10.14712/fb2023069030091.

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Many breast cancer (BC) predisposition genes encode proteins involved in DNA damage repair (DDR). Identification of germline pathogenic variants (PV) in DDR genes raises the question whether their presence can influence the treatment outcomes and potential radiation-induced toxicity in their carriers treated by adjuvant radiotherapy, which has not yet been answered conclusively. We retrospectively examined records of 213 BC patients treated by adjuvant radiotherapy, including 39 (18.3 %) BRCA1/2 PV carriers, 25 carriers (11.7 %) of PV in other breast cancer-predisposing genes, and 149 (70 %)

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Shinde, Pradnya K., and Pranita K. Shinde. "KARMASAMARTHYA (BALA): A LIFE POWER OF ALL EXISTENCE AND FAC-TORS FOR ITS PROMOTION BY AYURVED ASPECT." December 2020 8, no. 12 (2020): 5399–404. http://dx.doi.org/10.46607/iamj3508122020.

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Karmasamarthya means the ability or capacity of the person to perform work by mind, body, and speech. It can be considered as Bala or strength. Bala is an important concept of Ayurveda. It is a lifeforce of all living organisms. Ayurveda have many components to increase the Bala. This article focuses to disclose thorough review of literature of Bala and correlation of it with Bala-Vruddhikara-Bhava (factors responsi-ble for promotion of strength) and implication towards maintenance of health. The Bala of person is gov-erned by many factors like age, sex, food, health, disease state, time, seas

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Fiore, Amanda, Yue Liang, Yun Hsiao Lin, et al. "Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review." International Journal of Molecular Sciences 21, no. 8 (2020): 3007. http://dx.doi.org/10.3390/ijms21083007.

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MYSM1 has emerged as an important regulator of hematopoietic stem cell function, blood cell production, immune response, and other aspects of mammalian physiology. It is a metalloprotease family protein with deubiquitinase catalytic activity, as well as SANT and SWIRM domains. MYSM1 normally localizes to the nucleus, where it can interact with chromatin and regulate gene expression, through deubiquitination of histone H2A and non-catalytic contacts with other transcriptional regulators. A cytosolic form of MYSM1 protein was also recently described and demonstrated to regulate signal transducti

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Schiffman, Joshua D. "Applying molecular epidemiology in pediatric leukemia." Journal of Investigative Medicine 64, no. 2 (2016): 355–60. http://dx.doi.org/10.1097/jim.0000000000000204.

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Molecular epidemiology is the study of genetic and environmental risk for disease, with much effort centered on cancer. Childhood leukemia occurs in nearly a third of all patients newly diagnosed with pediatric cancer. only a small percentage of these new cases of childhood leukemia are associated with high penetrant hereditary cancer syndromes. Childhood leukemia, especially acute lymphoblastic leukemia, has been associated with a dysregulated immune system due to delayed infectious exposure at a young age. Identical twins with childhood leukemia suggest that acute lymphoblastic leukemia begi

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STEHLIK, Christian, Maryla KRAJEWSKA, Kate WELSH, Stanislaw KRAJEWSKI, Adam GODZIK, and John C. REED. "The PAAD/PYRIN-only protein POP1/ASC2 is a modulator of ASC-mediated nuclear-factor-kappaB and pro-caspase-1 regulation." Biochemical Journal 373, no. 1 (2003): 101–13. http://dx.doi.org/10.1042/bj20030304.

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Proteins containing PAAD {pyrin, AIM (absent-in-melanoma), ASC [apoptosis-associated speck-like protein containing a CARD (caspase-recruitment domain)] and DD (death domain)-like} (PYRIN, DAPIN) domains are involved in innate immunity, regulating pathways leading to nuclear-factor-κB (NF-κB) and pro-caspase-1 activation. Many PAAD-family proteins have structures reminiscent of Nod-1, a putative intracellular sensor of lipopolysaccharide. Hereditary mutations in some of the PAAD-family genes are associated with auto-inflammatory diseases. Several of these proteins utilize the bipartite PAAD- an

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Sangiorgi, Eugenio, and Donato Rigante. "The Clinical Chameleon of Autoinflammatory Diseases in Children." Cells 11, no. 14 (2022): 2231. http://dx.doi.org/10.3390/cells11142231.

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The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named ‘autoinflammatory’, which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Dysregulat

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Tiosano, Dov, Gizi Wildbaum, Vardit Gepstein, et al. "The Role of Vitamin D Receptor in Innate and Adaptive Immunity: A Study in Hereditary Vitamin D–Resistant Rickets Patients." Journal of Clinical Endocrinology & Metabolism 98, no. 4 (2013): 1685–93. http://dx.doi.org/10.1210/jc.2012-3858.

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Xie, Kai, Lijun Chen, and Jiazhao Yang. "RNA Sequencing Evidences the Prevention of Oxidative Stress is Effective in Injury-Induced Heterotopic Ossification Treatment." Journal of Biomedical Nanotechnology 17, no. 2 (2021): 196–204. http://dx.doi.org/10.1166/jbn.2021.3019.

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Heterotopic ossification is a bona fide bone formation outside the normal skeleton. Traumatic injury and genetic mutations are the important risk factors of HO. Both injury-induced HO and hereditary HO severely affect human life quality. However, there were no effect therapies treating HO. Here, we performed the RNA-sequencing assay to examine dynamic process during HO initiation and development. Moreover, we found that oxidation-reduction process were significantly dysregulated following HO formation. Further, we characterized that Nuclear factor erythroid 2-related factor 2 (NRF2) expression

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Umnyakova, E. S., L. D. Pashinskaya, I. A. Krenev, S. V. Legkovoy, V. N. Kokryakov, and M. N. Berlov. "Diseases associated with complement system dysregulation and the prospects of their treatment." Medical academic journal 18, no. 3 (2018): 7–16. http://dx.doi.org/10.17816/maj1837-16.

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The lack of pharmaceutical agents that could modulate complement activation is one of the most serious problems in modern medical practice. Meanwhile, the complement system plays a significant role in the pathogenesis of numerous diseases such as age-related macular degeneration (degenerative eye disease, which is the main cause of blindness in the elderly), kidney diseases such as atypical hemolytic-uremic syndrome and membranoproliferative glomerulonephritis type II, paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli disease), and hereditary angioedema. The complement and its component

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Khalili, K., and M. K. White. "Human demyelinating disease and the polyomavirus JCV." Multiple Sclerosis Journal 12, no. 2 (2006): 133–42. http://dx.doi.org/10.1191/135248506ms1264oa.

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Many human neurological diseases involve demyelination of the central and/or peripheral nervous systems. These include the hereditary leukodystrophies -which have a genetic basis; multiple sclerosis (MS) -where the underlying cause of demyelination remains unknown; and progressive multifocal leukoencephalopathy (PML) -where the etiology is well-established as being viral. The human neurotropic polyomavirus -JC virus (JCV) -is the etiologic agent of PML, a fatal demyelinating disease of the central nervous system that occurs mainly in immunosuppressed patients, especially those with HIV/AIDS. J

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Sanchez-Garrido, Julia, Vanessa Sancho-Shimizu, and Avinash R. Shenoy. "Regulated proteolysis of p62/SQSTM1 enables differential control of autophagy and nutrient sensing." Science Signaling 11, no. 559 (2018): eaat6903. http://dx.doi.org/10.1126/scisignal.aat6903.

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The multidomain scaffold protein p62 (also called sequestosome-1) is involved in autophagy, antimicrobial immunity, and oncogenesis. Mutations in SQSTM1, which encodes p62, are linked to hereditary inflammatory conditions such as Paget’s disease of the bone, frontotemporal dementia (FTD), amyotrophic lateral sclerosis, and distal myopathy with rimmed vacuoles. Here, we report that p62 was proteolytically trimmed by the protease caspase-8 into a stable protein, which we called p62TRM. We found that p62TRM, but not full-length p62, was involved in nutrient sensing and homeostasis through the mec

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Kutasevych, Ya F., G. K. Kondakova, S. K. Dzhoraeva, O. A. Sokol, and Z. M. Shevchenko. "SOME FEATURES OF CYTOKINE STATUS IN PATIENTS WITH PSORIASIS." Dermatology and Venerology, no. 1 (2023): 11–13. http://dx.doi.org/10.33743/2308-1066-2023-1-11-13.

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The purpose of the study is to evaluate the content of IL‑7, –4 and –17A in the blood of patients with psoriasis, depending on the severity of the disease. Materials and methods. A group of patients was examined, which included 47 patients with vulgar psoriasis; 10 patients with arthropathic psoriasis, as well as a control group of 15 conditionally healthy individuals. The content of interleukin –4, –7, –17A was determined in blood serum by the immunoenzymatic method. Results and conclusions. In patients with a severe course of psoriasis (arthropathic psoriasis), pathological activation of her

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Al-Sarraj, Faisal. "The Diverse Nature of Oral Bacterial Flora in Sickle Cell Anemia Patients." Journal of Applied Hematology 16, no. 1 (2025): 1–9. https://doi.org/10.4103/joah.joah_127_24.

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Abstract Sickle cell ailment or disease (SCD) is a recessive hemoglobinopathy disease common in parts of Asia. SCD patients are considered to be affected by a public health issue, and the condition impacts a substantial portion of the global population. The paper seeks to explore oral cavity microbiome among individuals with a positive SCD diagnosis. It also explores the relationship between dental caries and oral bacteria among such patients. The examination aims to discuss and establish the nature of oral microbiome among this vulnerable group. Some key considerations include age group, gene

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Ryazantsev, Nikita Valer'evich. "LAW OF HOMOLOGICAL SERIES IN HEREDITARY VARIABILITY. TO 100 ANNIVERSARY OF THE N.I. VAVILOV DISCOVERY." Agrarian Scientific Journal, no. 6 (June 19, 2020): 4–7. http://dx.doi.org/10.28983/asj.y2020i6pp4-7.

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The article is dedicated to the centenary of the main scientific discovery of the academician of the USSR Academy of Sciences, the Agricultural Academy and the USSR Academy of Sciences N.I. Vavilov - to the law of homological series in hereditary variability. The discovery of the law was one of the most significant events in biology of the first half of the twentieth century and had a significant impact on the selection process. From a biographical point of view, the discovery of the law was for N.I. Vavilov - a young professor, head of the department of private agriculture and genetics of the

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McMurray, Jeremy C., Brandon J. Schornack, Andrew L. Weskamp, et al. "Immunodeficiency: Complement disorders." Allergy and Asthma Proceedings 45, no. 5 (2024): 305–9. http://dx.doi.org/10.2500/aap.2024.45.240050.

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The complement system is an important component of innate and adaptive immunity that consists of three activation pathways. The classic complement pathway plays a role in humoral immunity, whereas the alternative and lectin pathways augment the innate response. Impairment, deficiency, or overactivation of any of the known 50 complement proteins may lead to increased susceptibility to infection with encapsulated organisms, autoimmunity, hereditary angioedema, or thrombosis, depending on the affected protein. Classic pathway defects result from deficiencies of complement proteins C1q, C1r, C1s,

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Kuzmenko, N. B., M. A. Alexenko, A. A. Mukhina, et al. "Genetic diversity in pediatric patients with inborn errors of immunity in Russia." Pediatric Hematology/Oncology and Immunopathology 23, no. 4 (2024): 131–37. https://doi.org/10.24287/1726-1708-2024-23-4-131-137.

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To date, about 500 genetic defects are known to cause clinical manifestations of immunodeficiency. Genetic diagnosis is necessary to guide the management of patients with inborn errors of immunity (IEI) and plays an important role in genetic counselling of families. To find the genetic cause of IEI, 2395 probands were tested, in 1507 (65.7%) of them we identified 164 forms of IEI with defects in 143 single genes and abnormalities in 8 chromosomes. The majority of IEIs (89.1%) were monogenic, with 98.6% of them being of germline origin. Only 10.6% of IEIs were due to large chromosomal breaks. T

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Khandia, Rekha, Maryam Dadar, Ashok Munjal, et al. "A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy." Cells 8, no. 7 (2019): 674. http://dx.doi.org/10.3390/cells8070674.

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Autophagy (self-eating) is a conserved cellular degradation process that plays important roles in maintaining homeostasis and preventing nutritional, metabolic, and infection-mediated stresses. Autophagy dysfunction can have various pathological consequences, including tumor progression, pathogen hyper-virulence, and neurodegeneration. This review describes the mechanisms of autophagy and its associations with other cell death mechanisms, including apoptosis, necrosis, necroptosis, and autosis. Autophagy has both positive and negative roles in infection, cancer, neural development, metabolism,

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Zhang, Heng, Qiang Ju, Jing Ji, and Yanjie Zhao. "Pan-Cancer Analysis Reveals FH as a Potential Prognostic and Immunological Biomarker in Lung Adenocarcinoma." Disease Markers 2021 (October 26, 2021): 1–13. http://dx.doi.org/10.1155/2021/8554844.

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Fumarate hydratase (FH) is an important enzymatic component in the tricarboxylic acid cycle. Studies have reported that FH plays an important role in hereditary leiomyomatosis and renal cell cancer (HLRCC). However, the role of FH in human different cancers remains unknown. This study is aimed at analyzing the prognostic value of FH and demonstrating the correlation between FH expression and tumor immunity. Results showed that FH was mutated or copy number varied in 27 types of cancer. FH mRNA was abnormally upregulated across various cancers. Survival analysis suggested high expression of FH

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Singh, Poonam. "Integrated Management of Type-2 Diabetes Mellitus Associated Hyperlipidemia with Naturopathy, Yoga and Diet Control: A Case Report." International Research Journal of Ayurveda & Yoga 05, no. 08 (2022): 107–20. http://dx.doi.org/10.47223/irjay.2022.5814.

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Diabetes mellitus is a syndrome-like systemic problem that has multi-organ complications. Early intervention may prevent several manifestations of different organs. Diabetes disrupts the healing process, immunity, and may result in renal complications, and retinopathies. Our increasing sedentary lifestyle, bad food habits and lifestyle choices like smoking and drinking are responsible for the progression of this dreaded disease. Various causes of diabetes may be pathological, hereditary, congenital, faulty lifestyle, pancreatic malfunction and the build-up of toxins in the body. Many treatment

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Martinez, Jose G., Michael Waldon, Qiyu Huang, et al. "Membrane-targeted synergistic activity of docosahexaenoic acid and lysozyme against Pseudomonas aeruginosa." Biochemical Journal 419, no. 1 (2009): 193–200. http://dx.doi.org/10.1042/bj20081505.

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Antimicrobial polypeptides, including lysozymes, have membrane perturbing activity and are well-documented effector molecules of innate immunity. In cystic fibrosis, a hereditary disease with frequent lung infection with Pseudomonas aeruginosa, the non-esterified fatty acid DA (docosahexaenoic acid), but not OA (oleic acid), is decreased, and DA supplementation has been shown to improve the clinical condition in these patients. We hypothesized that DA may, either alone or in conjunction with lysozyme, exert antibacterial action against Ps. aeruginosa. We found that DA and lysozyme synergistica

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Kramer, I. "Widespread Immunity to Breast and Prostate Cancers is Predicted by a Novel Model that also Determines Sporadic and Hereditary Susceptible Population Sizes." Mathematical Modelling of Natural Phenomena 5, no. 3 (2010): 134–64. http://dx.doi.org/10.1051/mmnp/20105309.

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Габибуллаева, S. Gabibullaeva, Абдурахманов, and A. Abdurakhmanov. "The level of dental awareness in the patients with hemophilia." Journal of New Medical Technologies. eJournal 8, no. 1 (2014): 1–5. http://dx.doi.org/10.12737/4801.

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The considerable prevalence of dental diseases in the patients with hemophilia is due to the absence of prevention and the proper care of the oral cavity, as well as regular medical examination. This category of patients reluctantly turns to the dentists for fear of bleeding, and the doctors for the same reason, avoid interventions in the mouth. Dental aspects of hemophilia are relevant problem of modern medicine due to the high intensity of organs and tissues of the oral cavity, a real risk of complications during dental procedures of therapeutic, surgical and orthopedic profiles. Epidemiolog

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Karjalainen, Anzhelika, Stephen Shoebridge, Milica Krunic, et al. "TYK2 in Tumor Immunosurveillance." Cancers 12, no. 1 (2020): 150. http://dx.doi.org/10.3390/cancers12010150.

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We review the history of the tyrosine kinase 2 (TYK2) as the founding member of the Janus kinase (JAK) family and outline its structure-function relation. Gene-targeted mice and hereditary defects of TYK2 in men have established the biological and pathological functions of TYK2 in innate and adaptive immune responses to infection and cancer and in (auto-)inflammation. We describe the architecture of the main cytokine receptor families associated with TYK2, which activate signal transducers and activators of transcription (STATs). We summarize the cytokine receptor activities with well characte

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Rosa, Luigi, Giusi Ianiro, Antonella Niro, et al. "Valpalf®: A New Nutraceutical Formulation Containing Bovine Lactoferrin That Exhibits Potentiated Biological Activity." International Journal of Molecular Sciences 25, no. 16 (2024): 8559. http://dx.doi.org/10.3390/ijms25168559.

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As a nutraceutical, bovine lactoferrin (bLf), an iron-binding glycoprotein involved in innate immunity, is gaining elevated attention for its ability to exert pleiotropic functions and to be exceptionally tolerated even at high dosages. Some of bLf’s activities, including its anti-inflammatory and antioxidant, are tightly linked to its ability to both chelate iron and enter inside the cell nucleus. Here, we present data about Valpalf®, a new formulation containing bLf, sodium citrate, and sodium bicarbonate at a molar ratio of 10−3. In the present study, Valpalf® exhibits superior iron-binding

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Gaggiano, Carla, Donato Rigante, Antonio Vitale, et al. "Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases." Mediators of Inflammation 2019 (December 31, 2019): 1–29. http://dx.doi.org/10.1155/2019/3293145.

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Monogenic autoinflammatory diseases (mAIDs) are inherited errors of innate immunity characterized by systemic inflammation recurring with variable frequency and involving the skin, serosal membranes, synovial membranes, joints, the gastrointestinal tube, and/or the central nervous system, with reactive amyloidosis as a potential severe long-term consequence. Although individually uncommon, all mAIDs set up an emerging chapter of internal medicine: recent findings have modified our knowledge regarding mAID pathophysiology and clarified that protean inflammatory symptoms can be variably associat

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Kim, Kunhwa, Faustine Ong, and Koji Sasaki. "Current Understanding of DDX41 Mutations in Myeloid Neoplasms." Cancers 15, no. 2 (2023): 344. http://dx.doi.org/10.3390/cancers15020344.

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The DEAD-box RNA helicase 41 gene, DDX41, is frequently mutated in hereditary myeloid neoplasms, identified in 2% of entire patients with AML/MDS. The pathogenesis of DDX41 mutation is related to the defect in the gene’s normal functions of RNA and innate immunity. About 80% of patients with germline DDX41 mutations have somatic mutations in another allele, resulting in the biallelic DDX41 mutation. Patients with the disease with DDX41 mutations reportedly often present with the higher-grade disease, but there are conflicting reports about its impact on survival outcomes. Recent studies using

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Dermendzhiev, Svetlan M., Radostina Simeonova, and Marianna A. Murdjeva. "Angioedema in progressive muscular dystrophy: a case report." Folia Medica 54, no. 1 (2012): 65–69. http://dx.doi.org/10.2478/v10153-011-0080-z.

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ABSTRACT INTRODUCTION: Systemic allergic reactions, which include angioedema, are very common in clinical practice. There is great diversity in the etiological factors known to trigger angioedema, and in the pathogenetic mechanisms defi ning this condition. Beside the broad spectrum of immuno-allergic reactions involved in the angioedemic pathogenesis, this condition is known to also develop on the background of other disorders. These disorders may be of different etiology and have different pathogenesis (either non-immune or immune) but have one common feature referred to as “serological over

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Zhao, Jialian, Qiang Gu, Lifeng Wang, et al. "Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients." Mediators of Inflammation 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/2152650.

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DEFA1/DEFA3, genes encoding human neutrophil peptides (HNP) 1–3, display wide-ranging copy number variations (CNVs) and is functionally associated with innate immunity and infections. To identify potential associations between DEFA1/DEFA3 CNV and hospital-acquired infections (HAIs), we enrolled 106 patients with HAIs and 109 controls in the intensive care unit (ICU) and examined their DEFA1/DEFA3 CNVs. DEFA1/DEFA3 copy number ranged from 2 to 16 per diploid genome in all 215 critically ill patients, with a median of 7 copies. In HAIs, DEFA1/DEFA3 CNV varied from 2 to 12 with a median of 6, whi

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Самаль, Т. Н. "Infantile Interstitial Lung Diseases." Педиатрия. Восточная Европа, no. 1 (March 3, 2021): 79–93. http://dx.doi.org/10.34883/pi.2021.9.1.007.

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Интерстициальные болезни легких (ИБЛ) у детей первых лет жизни, как и ИБЛ у взрослых, относятся к редкой патологии. Несмотря на схожесть клинической и рентгенологической картины, младенческие ИБЛ имеют значительные отличия от данной патологии у старших детей и взрослых, поскольку развиваются на фоне активно растущих легких и особенностей иммунитета. У детей важную роль в развитии ИБЛ играют наследственные и неонатальные причины (наследственная патология сурфактанта, нейроэндокринная гиперплазия, пневмопатии недоношенных и т. д.), в то время как аутоиммунные реакции, доминирующие у взрослых, не

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