Search Results - "Johnston, Alicia M."
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A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency
Published in Journal of clinical immunology (01-06-2024)Get full text
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Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-05-2021)“…Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from…”
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A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID)
Published in Journal of clinical immunology (01-08-2016)Get full text
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Immune reconstitution in human immunodeficiency virus-infected children receiving highly active antiretroviral therapy: a cohort study
Published in The Pediatric infectious disease journal (01-10-2001)“…BACKGROUND.Highly active antiretroviral therapy (HAART) has brought about rapid declines in HIV-1 RNA concentrations and an increase in CD4 counts in…”
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9: Diagnosis of Campylobacter upsaliensis and Helicobacter canis by plasma-based Next-Generation Sequencing for Microbial Cell-free DNA in twin brothers with XLA
Published in Journal of the Pediatric Infectious Diseases Society (28-06-2021)“…Abstract Background X-linked agammaglobulinemia is a primary immunodeficiency associated with mutations in the B cell tyrosine kinase (BTK) gene leading to…”
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2589. Two Cases of Congenital Babesiosis
Published in Open forum infectious diseases (23-10-2019)“…Abstract Background Babesiosis is caused by Babesia microti and often transmitted via Ixodes scapularis. To the best of our knowledge, only 9 cases of vertical…”
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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
Published in Journal of allergy and clinical immunology (01-12-2010)“…An autosomal-dominant form of hyper-IgE syndrome caused by mutations in signal transducer and activator of transcription 3 is characterized by elevated IgE,…”
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