Results 201 to 210 of about 46,284 (262)
TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk. [PDF]
J Clin ImmunolAljohani AH.
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Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt. [PDF]
Eur J PediatrAbdelrazic MI +4 more
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Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]
Front GenetKim Lien NT +8 more
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Medical Clinics of North America, 2023
Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
openaire +3 more sources
Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
openaire +3 more sources
Inborn Errors of Immunity and Cancer [PDF]
Biology, 2021 Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all
Andrea Pession +2 more
exaly +5 more sources
2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
openaire +2 more sources
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
openaire +2 more sources