28 hasil untuk "Rahman, Mahbuba"
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Artikel Jurnal Teks lengkap
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency
BACKGROUND: Cytomegalovirus (CMV) can cause severe disease in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are prone to multiple infections. It can also rarely cause disease in otherwise healthy persons. The pathogenesis of idiopathic CMV disease is…
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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes
PURPOSE: Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impaired is unclear. We assessed the functional consequences of a novel, homozygous…
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Inherited human IFN-γ deficiency underlies mycobacterial disease
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and environmental mycobacteria. The known genetic etiologies of MSMD are inborn errors of IFN-γ immunity due to mutations…
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Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria
Inborn errors of human IFN-γ immunity underlie mycobacterial disease. We report a patient with mycobacterial disease due to inherited deficiency of the transcription factor T-bet. The patient has extremely low counts of circulating Mycobacterium-reactive NK, invariant NKT (iNKT), mucosal-associated…
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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
The pathophysiology of adverse events following PD-1 blockade, including tuberculosis (TB)(1) and autoimmunity(2), remains poorly characterized. We studied a patient with inherited PD-1 deficiency and TB who died of pulmonary autoimmunity. The patient’s leukocytes did not express PD-1 or respond to…
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Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling
T follicular helper (Tfh) cells abundantly express the immunoreceptor PD-1, and the impact of PD-1 deficiency on antibody (Ab)-mediated immunity in mice is associated with compromised Tfh cell functions. Here, we examined the role of the PD-1:PD-L1 axis on Ab-mediated immunity. Individuals with…
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Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy
We study a patient with the human papilloma virus (HPV)-2-driven “tree-man” phenotype and two relatives with unusually severe HPV4-driven warts. The giant horns form an HPV-2-driven multifocal benign epithelial tumor overexpressing viral oncogenes in the epidermis basal layer. The patients are…
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Artikel Jurnal Teks lengkap
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1…