Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]
Napiorkowska-Baran K +8 more
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Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges. [PDF]
Alkarni M.
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Antigen Microarray Reveals Broad and Subclinical Autoimmunity in Patients with Inborn Errors of Immunity. [PDF]
Zhang W +10 more
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Neuroimaging in inborn errors of immunity: More than infections. [PDF]
Sousa Brandão P +2 more
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Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity. [PDF]
Yılmaz SY +3 more
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Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025). [PDF]
Wu Q, Gao J, Yuan Y, Yang H, Fu Q.
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Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review. [PDF]
Gámez-González LB +5 more
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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
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Inborn errors of STAT1 immunity
Current Opinion in Immunology, 2021Signal transducer and activator of transcription 1 (STAT1) is a latent cytoplasmic transcription factor that is activated by multiple stimuli, including type I, II, and III interferons and interleukin-27. Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency,
Yoko, Mizoguchi, Satoshi, Okada
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