A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency.
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Cytomegalovirus retinitis and immune recovery uveitis in a pediatric patient with leukemia.
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CNS TB-IRIS Following Cessation of Adalimumab in an Adolescent With Crohn's Disease.
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Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling.
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Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.
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