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Primary immunodeficiency [PDF]

Allergy, Asthma & Clinical Immunology, 2018
Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders that result from defects in immune system development and/or function.
Christine McCusker, Julia Upton, Richard Warrington   +2 more
doaj   +4 more sources

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia

Frontiers in Immunology, 2023
BackgroundBruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells.
Chai Teng Chear, Intan Hakimah Ismail, Kwai Cheng Chan, Lokman Mohd Noh, Asiah Kassim, Amir Hamzah Abdul Latiff, Sandeep Singh Gill, Nazatul Haslina Ramly, Kah Kee Tan, Charlotte Sundaraj, Chong Ming Choo, Sharifah Adlena Syed Mohamed, Mohd Farid Baharin, Amelia Suhana Zamri, Sharifah Nurul Husna Syed Yahya, Saharuddin Bin Mohamad, Saharuddin Bin Mohamad, Adiratna Mat Ripen   +17 more
doaj   +1 more source

Diminished toll-like receptor response in febrile infection-related epilepsy syndrome (FIRES)

Biomedical Journal, 2020
Background: Defective human TLR3 signaling causes recurrent and refractory herpes simplex encephalitis/encephalopathy. Children with febrile infection-related epilepsy syndrome with refractory seizures may have defective TLR responses.
Meng-Ying Hsieh, Jainn-Jim Lin, Shao-Hsuan Hsia, Jing-Long Huang, Kuo-Wei Yeh, Kuei-Wen Chang, Wen-I. Lee   +6 more
doaj   +1 more source

Comprehensive Characterization of the Transmitted/Founder env Genes From a Single MSM Cohort in China [PDF]

, 2015
Background: The men having sex with men (MSM) population has become one of the major risk groups for HIV-1 infection in China. However, the epidemiological patterns, function of the env genes, and autologous and heterologous neutralization activity in ...
Cai, F, Chen, Y, Gao, F, Huang, X, Jiang, C, Li, N, Meng, Z, Montefiori, DC, Vandergrift, N, Wu, H, Xin, R, Xu, X, Zhang, T, Zhang, X   +13 more
core   +1 more source

Stem-cell-based gene therapy for HIV infection. [PDF]

, 2013
Despite the enormous success of combined anti-retroviral therapy, HIV infection is still a lifelong disease and continues to spread rapidly worldwide. There is a pressing need to develop a treatment that will cure HIV infection.
Kitchen, Scott, Zhen, Anjie
core   +2 more sources

Severe gastrointestinal cytomegalovirus infection in a patient diagnosed with late onset combined immunodeficiency

European Journal of Case Reports in Internal Medicine
Late onset combined immunodeficiency (LOCID) is a rare variant of common variable immunodeficiency (CVID), typically affecting adult patients who present with opportunistic infections (OI) and/or low CD4+ T lymphocytes.
Georgina Sauqué Pintos, Arnau Antolí Gil, Gemma Rocamora Blanch, Renzo Avila Espinoza, Rosario Taco Sánchez, Núria Sabé Fernández, Xavier Solanich Moreno   +6 more
doaj   +1 more source

Dual-acting stapled peptides target both HIV-1 entry and assembly [PDF]

, 2013
Background: Previously, we reported the conversion of the 12-mer linear and cell-impermeable peptide CAI to a cell-penetrating peptide NYAD-1 by using an i,i + 4 hydrocarbon stapling technique and confirmed its binding to the C-terminal domain (CTD ...
Bhargava, P., Cooper, A., Curreli, F., Debnath, A.K., Freed, E.O., Lee, S., Mehta, M., Mercredi, P.Y., Scacalossi, D., Summers, M.F., Tong, X., Waheed, A.A., Zhang, H.   +12 more
core   +2 more sources

Pre-incubation of cell-free HIV-1 group M isolates with non-nucleoside reverse transcriptase inhibitors blocks subsequent viral replication in co-cultures of dendritic cells and T cells. [PDF]

, 2005
In order to study the inhibitory effect of various reverse transcriptase inhibitors (RTIs) on cell-free HIV, we adapted a recently described in vitro system, based on co-cultures of dendritic cells and resting CD4 T cells, modelling early target cells ...
Andries, Koen, Fransen, K., Garcia, S., Janssen, C.G.M., Janssen, P.A.J., Kestens, Luc, Lewi, Paul, Njai, H.F., Vanham, Guido   +8 more
core  

Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions [PDF]

, 2014
© 2014, The Author(s).Research in the past two decades has generated unequivocal evidence that host genetic variations substantially account for the heterogeneous outcomes following human immunodeficiency virus type 1 (HIV-1) infection.
Allen, S, Amornkul, PN, Anzala, O, Gilmour, J, He, D, Hunter, E, Kamali, A, Karita, E, Kaslow, RA, Lakhi, S, Li, X, Partnership, IAHIVP, Price, MA, Sanders, EJ, Tang, J   +14 more
core   +1 more source

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Nature Communications, 2018
IKZF1 is a transcription factor known to regulate mammalian B-cell development. Here the authors show that IKZF1 is required for human pDC development and regulation of DC cytokine production in patients with IKZF1 haploinsufficiency, findings which are ...
Urszula Cytlak, Anastasia Resteu, Delfien Bogaert, Hye Sun Kuehn, Thomas Altmann, Andrew Gennery, Graham Jackson, Attila Kumanovics, Karl V. Voelkerding, Seraina Prader, Melissa Dullaers, Janine Reichenbach, Harry Hill, Filomeen Haerynck, Sergio D. Rosenzweig, Matthew Collin, Venetia Bigley   +16 more
doaj   +1 more source