Common variable immunodeficiency patients with increased CD21-/lo B-cells suffer from altered receptor editing and defective central B-cell tolerance.
Blood. 2011 November; 118(22):118(22): 5977-5978.
Response: common variable immunodeficiency patients with increased CD21−/lo B cells suffer from altered receptor editing and defective central B-cell tolerance.
Blood. 2011 November; 118(22):5977-5978. doi: 10.1182/blood-2011-09-373969.
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
N Engl J Med.
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Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.
J Allergy Clin Immunol.
2013 Jun;131(6):1691-3. doi: 10.1016/j.jaci.2013.01.004. Epub 2013 Feb 10. PubMed PMID:
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CVID-associated TACI mutations affect autoreactive B cell selection and activation.
J Clin Invest.
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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA.
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Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
Nat Genet.
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Peri-operative considerations in the patient with primary immune deficiency: a review.
Surg Infect (Larchmt).
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TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development.
J Allergy Clin Immunol.
2015 Nov;136(5):1315-25. doi: 10.1016/j.jaci.2015.05.012. Epub 2015 Jun 19. PubMed PMID:
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Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
J Clin Invest.
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Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
J Allergy Clin Immunol Pract.
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Reply.
J Allergy Clin Immunol.
2017 Jul;140(1):316-317. doi: 10.1016/j.jaci.2017.03.016. Epub 2017 Apr 29. PubMed PMID:
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Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.
Journal of Allergy and Clinical Immunology. 2017 May; 139(5):1698-1701. doi: 10.1016/j.jaci.2016.10.022.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet.
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NLRC4 inflammasomopathies.
Curr Opin Allergy Clin Immunol.
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CD40LG duplication-associated autoimmune disease is silenced by nonrandom X-chromosome inactivation.
J Allergy Clin Immunol.
2018 Jun;141(6):2308-2311.e7. doi: 10.1016/j.jaci.2018.02.010. Epub 2018 Mar 2. PubMed PMID:
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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.
J Allergy Clin Immunol.
2018 Jun;141(6):2303-2306. doi: 10.1016/j.jaci.2018.02.007. Epub 2018 Mar 2. PubMed PMID:
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Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.
J Allergy Clin Immunol.
2019 Jan;143(1):258-265. doi: 10.1016/j.jaci.2018.06.012. Epub 2018 Jun 20. PubMed PMID:
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Reprogramming human T cell function and specificity with non-viral genome targeting.
Nature.
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Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
Front Immunol.
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
J Allergy Clin Immunol.
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BCL6 Inhibitor-Mediated Downregulation of Phosphorylated SAMHD1 and T Cell Activation Are Associated with Decreased HIV Infection and Reactivation.
J Virol.
2019 Jan 15;93(2). doi: 10.1128/JVI.01073-18. Print 2019 Jan 15. PubMed PMID:
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Reply.
J Allergy Clin Immunol.
2019 Apr;143(4):1660. doi: 10.1016/j.jaci.2018.12.1016. Epub 2019 Feb 15. PubMed PMID:
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AIRE expression controls the peripheral selection of autoreactive B cells.
Science Immunology. 2019 April; 4(34):-. doi: 10.1126/sciimmunol.aav6778.
Common variable immunodeficiency-associated endotoxemia promotes early commitment to the T follicular lineage.
J Allergy Clin Immunol.
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
J Allergy Clin Immunol.
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Birds of a feather.
Annals of Allergy, Asthma & Immunology. 2019 November; 123(5):461-467. doi: 10.1016/j.anai.2019.07.027.
Immunodeficiency Masqueraders.
J Allergy Clin Immunol Pract.
2020 Apr;8(4):1468-1469. doi: 10.1016/j.jaip.2020.02.001. PubMed PMID:
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Mapping effector genes at lupus GWAS loci using promoter Capture-C in follicular helper T cells.
Nat Commun.
2020 Jul 3;11(1):3294. doi: 10.1038/s41467-020-17089-5. PubMed PMID:
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Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS-CoV-2.
J Clin Invest.
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Infectious Complications Predict Premature CD8(+) T-cell Senescence in CD40 Ligand-Deficient Patients.
J Clin Immunol.
2021 May;41(4):795-806. doi: 10.1007/s10875-021-00968-x. Epub 2021 Jan 26. PubMed PMID:
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Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis.
J Clin Immunol.
2021 Aug;41(6):1213-1218. doi: 10.1007/s10875-021-01025-3. Epub 2021 Mar 24. PubMed PMID:
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
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Hematopoietic Stem Cell Transplantation Successfully Treats CD40LG Duplication.
Journal of Clinical Immunology. 2021 June; 41(7):1668-1670. doi: 10.1007/s10875-021-01085-5.
Distinct stage-specific transcriptional states of B cells in human tonsillar tissue. [Preprint]. 2021 August. doi: 10.1101/2021.08.17.456535.
Human Adenovirus 7-Associated Hemophagocytic Lymphohistiocytosis-like Illness: Clinical and Virological Characteristics in a Cluster of Five Pediatric Cases.
Clin Infect Dis.
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Kikuchi-Fujimoto disease is mediated by an aberrant type I interferon response.
Mod Pathol.
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Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia.
JAMA Pediatr.
2022 Feb 1;176(2):176-184. doi: 10.1001/jamapediatrics.2021.4583. PubMed PMID:
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Germinal center responses to SARS-CoV-2 mRNA vaccines in healthy and immunocompromised individuals.
Cell.
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Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression.
J Clin Immunol.
2022 May;42(4):753-759. doi: 10.1007/s10875-022-01224-6. Epub 2022 Feb 12. PubMed PMID:
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BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.
Acta Neuropathol.
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Genetic obstacles to developing and tolerizing human B cells.
WIREs Mechanisms of Disease. 2022 April; 14(4):-. doi: 10.1002/wsbm.1554.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv.
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Implicating effector genes at COVID-19 GWAS loci using promoter-focused Capture-C in disease-relevant immune cell types.
Genome Biol.
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol.
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High cost of immunoglobulin replacement therapy: Causes and implications.
Ann Allergy Asthma Immunol.
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Human T follicular helper clones seed the germinal center-resident regulatory pool.
Sci Immunol.
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Distinct stage-specific transcriptional states of B cells derived from human tonsillar tissue.
JCI Insight.
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Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease.
J Clin Immunol.
2023 Nov;43(8):1782-1783. doi: 10.1007/s10875-023-01586-5. Epub 2023 Sep 28. PubMed PMID:
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Common variable immunodeficiency, cross currents, and prevailing winds.
Immunological Reviews. 2023 November; 322(1):233-243. doi: 10.1111/imr.13291.
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