Results 31 to 40 of about 544,097 (312)

Efficacy of combined immunotherapy with Propes and Inflamafertin in selective deficiency of NK and NKT cells in children with autism spectrum disorders associated with genetic deficiency of the folate cycle [PDF]

Romanian Journal of Neurology, 2021
Objectives. The results of previous small clinical trials indicate the potential benefit of combination immunotherapy with Propes and Inflamafertin to compensate for NK and NKT cell deficiency due to genetic deficiency of the folate cycle in children ...
Dmitry Maltsev, Volodymyr Stefanyshyn
doaj   +1 more source

Integrating Functional, Structural, and Predictive Data in the Analysis of the Recombination Activating Gene (RAG) Genomic Variants

Journal of Human Immunity
The RAG1 and RAG2 genes encode proteins essential for initiating V(D)J recombination in T cell receptor and immunoglobulin gene loci. Biallelic pathogenic variants in these genes are implicated in a spectrum of immunodeficiency disorders, characterized ...
Gloria Magro, Heather Kenney, Neshatul Haque, Raul Urrutia, Michael Zimmermann, Luigi Notarangelo   +5 more
doaj   +1 more source

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Egyptian Journal of Medical Human Genetics, 2022
Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopausal women, and pregnant women. In most cases,
Farah Nur Elina Mohd Atan, Wan Asmuni Wan Mohd Saman, Yuhaniza Shafinie Kamsani, Zalizah Khalid, Amirah Abdul Rahman   +4 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Toll-like receptor 9 suppresses lupus disease in Fas-sufficient MRL Mice. [PDF]

PLoS ONE, 2017
Genetic deficiency in TLR9 accelerates pathogenesis in the spontaneous polygenic MRL.Faslpr murine model of systemic lupus erythematosus, despite the absence of anti-nucleosome autoantibodies. However, it could be argued that this result was dependent on
Kevin M Nickerson, Yujuan Wang, Sheldon Bastacky, Mark J Shlomchik   +3 more
doaj   +1 more source

Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus

JCRPE, 2023
Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary to maintain oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans and is among the important causes of hemolytic anemia.
Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve   +6 more
doaj   +1 more source

OTULIN deficiency: focus on innate immune system impairment

Frontiers in Immunology
OTULIN deficiency is a complex disease characterized by a wide range of clinical manifestations, including skin rash, joint welling, lipodystrophy to pulmonary abscess, and sepsis shock.
Bo Dou, Gang Jiang, Wang Peng, Chentao Liu   +3 more
doaj   +1 more source

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

BMC Medical Genetics, 2020
Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolism.
Margarita E. Polyak, Elena V. Zaklyazminskaya   +1 more
doaj   +1 more source

"Test me and treat me" - attitudes to vitamin D deficiency and supplementation: a qualitative study [PDF]

, 2015
© 2015 BMJ Open, "Test me and treat me"-attitudes to vitamin D deficiency and supplementation: a qualitative study.
Jakeways, Niki; id_orcid, Hull, Sally, Sohanpal, Ratna, Famakin, O, Sohanpal, R, Gadhvi, Dev, Kotta, S, Jakeways, N, Famakin, Olufunke, Martineau, Adrian, Martineau, A, Kotta, Siddharth, Saeed, M, Hull, S, Saeed, Maryum, Griffiths, Chris, Gadhvi, D, Griffiths, C   +17 more
core   +1 more source

Genetic testing for color vision deficiency

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner.
Abeshi Andi, Bruson Alice, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo   +5 more
doaj   +1 more source