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Article
Open AccessThe severity of dry eye symptoms and risk factors among university students in Saudi Arabia: a cross-sectional study
Dry eye syndrome (DES) is a tear film disorder caused by increased tear evaporation or decreased production. The heavy workload on the eye and the increased usage of digital screens may decrease blink frequenc...
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Article
Open AccessProof-of-concept study evaluating humoral primary immunodeficiencies via CJ:KREC ratio and serum BAFF level
Humoral primary immunodeficiencies are the most prevalent form of primary immunodeficiency (PID). Currently, there is no convenient method to quantify newly formed B cells. The aim of this proof-of-concept stu...
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Article
Open AccessCOVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI.
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Article
Open AccessJuvenile dermatomyositis: association between nail fold capillary end row loop– area under the curve– and disease damage indicators
Juvenile Dermatomyositis (JDM) is a rare autoimmune disease characterized by skin and muscle inflammation. The loss of nail fold capillary end row loops (ERL) is evidence of small vessel involvement in JDM. Th...
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Article
Open AccessNailfold capillary density in 140 untreated children with juvenile dermatomyositis: an indicator of disease activity
We lack a reliable indicator of disease activity in Juvenile Dermatomyositis (JDM), a rare disease. The goal of this study is to identify the association of nailfold capillary End Row Loop (ERL) loss with dise...
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Article
Novel NF-kappa B Inhibitor Alpha Gain-of-Function Variant in an Infant with Lymphocytosis and Recurrent Serratia Bacteremia
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Article
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency
Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of immunity characterized by combined immunodeficiency, allergies, autoin...
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Article
Open AccessCoding joint: kappa-deleting recombination excision circle ratio and B cell activating factor level: predicting juvenile dermatomyositis rituximab response, a proof-of-concept study
This pilot study’s primary aim was to determine if oligoclonal B cell expansion in children with Juvenile Dermatomyositis (JDM) predicts response to Rituximab therapy. We evaluated: (1) tissue B cell depletion...
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Article
A Case Report of SAVI Mimicking Early-Onset ANCA Vasculitis
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Article
Open AccessChanges in total body fat and body mass index among children with juvenile dermatomyositis treated with high-dose glucocorticoids
High-dose glucocorticoids (GC) remain the primary therapy to induce remission in Juvenile Dermatomyositis (JDM). Studies of the natural history of GC associated weight gain in children are very limited, especi...
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Article
Correction to: TREC Screening for WHIM Syndrome
A Correction to this paper has been published: https://doi.org/10.1007/s10875-021-00976-x
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Article
TREC Screening for WHIM Syndrome
T cell receptor excision circle (TREC) quantification is a recent addition to newborn screening (NBS) programs and is intended to identify infants with severe combined immunodeficiencies (SCID). However, other...
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Article
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
Isolated neuroinflammatory disease has been described in case reports of familial hemophagocytic lymphohistiocytosis (FHL), but the clinical spectrum of disease manifestations, response to therapy and prognosi...
