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Misdiagnosis of Common Variable Immune Deficiency
Immunodeficiency disorders commonly present over several years and overlap in clinical features both among themselves and with autoimmune conditions....
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USP47 deficiency in mice modulates tumor infiltrating immune cells and enhances antitumor immune responses in prostate cancer
This study investigates the role of USP47, a deubiquitinating enzyme, in the tumor microenvironment and its impact on antitumor immune responses....
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Iron Deficiency, Anemia, and the Immune System
Iron homeostasis is critical for human health, because both too little and too much iron may have severe clinical consequences. No other element can...
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A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR)...
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LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons
Mutations in LRBA, a BEACH domain protein, cause severe immune deficiency in humans. LRBA is expressed in many tissues and organs according to...
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G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of red cells. It is mostly asymptomatic but manifests with...
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Lentiviral Gene Transfer Corrects Immune Abnormalities in XIAP Deficiency
BackgroundX-linked inhibitor of apoptosis protein (XIAP) deficiency is a severe immunodeficiency with clinical features including hemophagocytic...
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Selenium deficiency-induced multiple tissue damage with dysregulation of immune and redox homeostasis in broiler chicks under heat stress
Broiler chicks are fast-growing and susceptible to dietary selenium (Se) deficiency. This study sought to reveal the underlying mechanisms of how Se...
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Isolated adrenocorticotropic hormone deficiency following immune checkpoint inhibitors treatment often occurs in polyglandular endocrinopathies
BackgroundWith the increasing application of immune checkpoint inhibitors (ICI) in cancer therapy, the occurrence of isolated adrenocorticotropic...
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TREM2 deficiency in microglia accelerates photoreceptor cell death and immune cell infiltration following retinal detachment
Retinal detachment (RD) occurs in several major retinal conditions and often causes irreversible vision loss due to photoreceptor cell death. Retinal...
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A secondary abdominal aorta-duodenal fistula accompanied with acquired Immune Deficiency Syndrome presented with recurrent sepsis: a case report
BackgroundAbdominal aorta-duodenal fistulas are rare abnormal communications between the abdominal aorta and duodenum. Secondary abdominal...
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Cystine/glutamate antiporter xCT deficiency reduces metastasis without impairing immune system function in breast cancer mouse models
BackgroundThe upregulation of antioxidant mechanisms is a common occurrence in cancer cells, as they strive to maintain balanced redox state and...
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T Cell Deficiency
T cell deficiency, also called as cell-mediated immune deficiency, accounts for 5–10% of all primary immune deficiency diseases. This form of immune...
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GATA2 deficiency: a mystery myelodysplasia
GATA2 deficiency, arising from mutations in the GATA2 gene, is a rare genetic disorder with profound implications for hematopoiesis, immune function,...
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Lyve-1 deficiency enhances the hepatic immune microenvironment entailing altered susceptibility to melanoma liver metastasis
BackgroundHyaluronan receptor LYVE-1 is expressed by liver sinusoidal endothelial cells (LSEC), lymphatic endothelial cells and specialized...
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Immune Checkpoint Inhibition
The development of immune checkpoint inhibitors (ICI) and their rapid introduction into clinical practice have revolutionized the treatment and...
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Immune Checkpoint Inhibition
The development of immune checkpoint inhibitors (ICI) and their rapid introduction into clinical practice have revolutionized the treatment and...
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CX3CR1 deficiency leads to impairment of immune surveillance in the epididymis
Mononuclear phagocytes (MPs) play an active role in the immunological homeostasis of the urogenital tract. In the epididymis, a finely tuned balance...
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HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency
PurposeIsolated adrenocorticotropic hormone deficiency is a rare disease; however, since immune check point inhibitors (ICIs) have become widely...
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Fatal acquired coagulation factor V deficiency after hepatectomy for advanced hepatocellular carcinoma as a possible immune checkpoint inhibitor-related adverse event: a case report
BackgroundAtezolizumab plus bevacizumab therapy was recently introduced as the first line for unresectable advanced hepatocellular carcinoma (HCC),...
