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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome.
- Published in:
- Frontiers in Immunology, 2024, p. 01, doi. 10.3389/fimmu.2024.1451212
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- Publication type:
- Article
The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease.
- Published in:
- Clinical Infectious Diseases, 2018, v. 66, n. 9, p. 1427, doi. 10.1093/cid/cix1012
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- Publication type:
- Article
IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2.
- Published in:
- Nature Communications, 2017, v. 8, n. 3, p. 14647, doi. 10.1038/ncomms14647
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- Publication type:
- Article
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.179
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- Publication type:
- Article
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
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- Clinical Infectious Diseases, 2016, v. 62, n. 8, p. 986, doi. 10.1093/cid/civ1220
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- Publication type:
- Article
Corticosteroid Therapy for Liver Abscess in Chronic Granulomatous Disease.
- Published in:
- Clinical Infectious Diseases, 2012, v. 54, n. 5, p. 694, doi. 10.1093/cid/cir896
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- Publication type:
- Article
Interleukin-12 Receptor β1 Deficiency Predisposing to Disseminated Coccidioidomycosis.
- Published in:
- Clinical Infectious Diseases, 2011, v. 52, n. 4, p. e99, doi. 10.1093/cid/ciq215
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- Publication type:
- Article
Complications of Tumor Necrosis Factor—α Blockade in Chronic Granulomatous Disease—Related Colitis.
- Published in:
- Clinical Infectious Diseases, 2010, v. 51, n. 12, p. 1429, doi. 10.1086/657308
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- Publication type:
- Article
Subgingival Microbial Communities in Leukocyte Adhesion Deficiency and Their Relationship with Local Immunopathology.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.ppat.1004698
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- Article
Approach to Primary Immunodeficiency.
- Published in:
- Allergy & Asthma Proceedings, 2004, v. 25, p. S59
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- Publication type:
- Article
Second messenger role for Mg<sup>2+</sup> revealed by human T-cell immunodeficiency.
- Published in:
- Nature, 2011, v. 475, n. 7357, p. 471, doi. 10.1038/nature10246
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- Publication type:
- Article
Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations.
- Published in:
- Open Forum Infectious Diseases, 2022, v. 9, n. 9, p. 1, doi. 10.1093/ofid/ofac472
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- Publication type:
- Article
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.
- Published in:
- Open Forum Infectious Diseases, 2017, v. 4, n. 4, p. N.PAG, doi. 10.1093/ofid/ofx202
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- Publication type:
- Article
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00077
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- Publication type:
- Article
Genetic Defects in Phosphoinositide 3-Kinase δ Influence CD8<sup>+</sup> T Cell Survival, Differentiation, and Function.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01758
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- Publication type:
- Article
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 1, p. 119, doi. 10.1007/s10875-021-01152-x
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- Publication type:
- Article
Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency.
- Published in:
- 2020
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- Publication type:
- Letter
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 299, doi. 10.1007/s10875-019-00732-2
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- Publication type:
- Article
Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks' Effect.
- Published in:
- Journal of Clinical Immunology, 2019, v. 39, n. 2, p. 148, doi. 10.1007/s10875-019-00612-9
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- Publication type:
- Article
Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.
- Published in:
- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 1, doi. 10.1007/s10875-018-0573-0
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- Publication type:
- Article
IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 449, doi. 10.1007/s10875-015-0174-0
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- Publication type:
- Article
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
- Published in:
- 2015
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- Publication type:
- Case Study
A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 4, p. 681, doi. 10.1007/s10875-012-9659-2
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- Publication type:
- Article
Streptococcal Infections in Patients with Chronic Granulomatous Disease: Case Report and Review of the Literature.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 4, p. 649, doi. 10.1007/s10875-012-9661-8
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- Publication type:
- Article
Gastrointestinal Fistulae in Chronic Granulomatous Disease.
- Published in:
- 2009
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- Publication type:
- Letter
Fatal CTLA-4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 12, p. 2066, doi. 10.1002/ccr3.1257
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- Publication type:
- Article
Leptin Replacement Therapy Modulates Circulating Lymphocyte Subsets and Cytokine Responsiveness in Severe Lipodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 2, p. 624, doi. 10.1210/jc.2005-1220
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- Publication type:
- Article
A conserved mechanism of TOR-dependent RCK-mediated mRNA degradation regulates autophagy.
- Published in:
- Nature Cell Biology, 2015, v. 17, n. 7, p. 930, doi. 10.1038/ncb3189
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- Publication type:
- Article
Defective Neutrophil Recruitment in Leukocyte Adhesion Deficiency Type I Disease Causes Local IL-17-Driven Inflammatory Bone Loss.
- Published in:
- Science Translational Medicine, 2014, v. 6, n. 229, p. 1, doi. 10.1126/scitranslmed.3007696
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- Publication type:
- Article
Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.
- Published in:
- 2020
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- Publication type:
- journal article
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1080, doi. 10.1002/humu.21322
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- Publication type:
- Article
Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
- Published in:
- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00239
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- Publication type:
- Article
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01433
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- Publication type:
- Article
White blood cell defects: Molecular discoveries and clinical management.
- Published in:
- Current Allergy & Asthma Reports, 2002, v. 2, n. 5, p. 385, doi. 10.1007/s11882-002-0071-5
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- Publication type:
- Article
Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.
- Published in:
- 2020
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- Publication type:
- journal article