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A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
- Published in:
- Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
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- Publication type:
- Article
Human dendritic cell deficiency: the missing ID?
- Published in:
- 2011
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- Publication type:
- journal article
Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 01, doi. 10.3389/fimmu.2022.1035532
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- Publication type:
- Article
Host genetic factors in susceptibility to mycobacterial disease.
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- Clinical Medicine, 2014, v. 14, p. s17, doi. 10.7861/clinmedicine.14-6-s17
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- Publication type:
- Article
Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
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- Clinical Infectious Diseases, 2022, v. 74, n. 1, p. 136, doi. 10.1093/cid/ciaa1790
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- Publication type:
- Article
A Better Grip: T Cells Strengthen Our Hand against Influenza.
- Published in:
- 2011
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- Publication type:
- Editorial
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency.
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- Journal of Clinical Immunology, 2022, v. 42, n. 4, p. 851, doi. 10.1007/s10875-022-01239-z
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- Publication type:
- Article
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era.
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- Journal of Clinical Immunology, 2022, v. 42, n. 4, p. 819, doi. 10.1007/s10875-022-01238-0
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- Publication type:
- Article
Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases.
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- Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1774, doi. 10.1007/s10875-021-01116-1
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- Publication type:
- Article
Human Disease Phenotypes Associated with Loss and Gain of Function Mutations in STAT2: Viral Susceptibility and Type I Interferonopathy.
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- Journal of Clinical Immunology, 2021, v. 41, n. 7, p. 1446, doi. 10.1007/s10875-021-01118-z
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- Publication type:
- Article
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.
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- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 171, doi. 10.1007/s10875-020-00895-3
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- Publication type:
- Article
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
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- Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 277, doi. 10.1007/s10875-019-00735-z
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- Publication type:
- Article
Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.
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- Journal of Clinical Immunology, 2019, v. 39, n. 8, p. 776, doi. 10.1007/s10875-019-00687-4
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- Publication type:
- Article
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
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- Journal of Clinical Immunology, 2017, v. 37, n. 1, p. 42, doi. 10.1007/s10875-016-0343-9
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- Publication type:
- Article
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
- Published in:
- 2016
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- Publication type:
- Erratum
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
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- Journal of Clinical Immunology, 2016, v. 36, n. 2, p. 117, doi. 10.1007/s10875-016-0232-2
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- Publication type:
- Article
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.
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- Journal of Clinical Immunology, 2015, v. 35, n. 7, p. 598, doi. 10.1007/s10875-015-0193-x
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- Publication type:
- Article
Adjuvant Rituximab--Exploratory Trial in Young People With Graves Disease.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 743, doi. 10.1210/clinem/dgab763
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- Publication type:
- Article
Varicella Vaccine for Susceptible Adults: Do It Today.
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- Clinical Infectious Diseases, 2004, v. 39, n. 11, p. 1640, doi. 10.1086/425618
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- Publication type:
- Article
CD3<sup>+</sup>TCRαβ/CD19<sup>+</sup>‐depleted stem cell boost and CD45RO<sup>+</sup> memory T‐cell add‐back as a successful salvage treatment for poor graft function unresponsive to eltrombopag, following a second allogenic HSCT
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- Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31203
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- Publication type:
- Article
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
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- Journal of Crohn's & Colitis, 2023, v. 17, n. 1, p. 49, doi. 10.1093/ecco-jcc/jjac103
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- Publication type:
- Article
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.
- Published in:
- 2011
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- Publication type:
- journal article
Letter to the Editor: <sup>1</sup>H, <sup>13</sup>C, and <sup>15</sup>N Resonance Assignments of Human Notch-1 Calcium Binding EGF Domains 11-13.
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- Journal of Biomolecular NMR, 2004, v. 29, n. 3, p. 443, doi. 10.1023/B:JNMR.0000032521.42723.1a
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- Publication type:
- Article
14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency.
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- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00964
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- Publication type:
- Article
Serum amyloid A induces interleukin-6 in dermal fibroblasts via Toll-like receptor 2, interleukin-1 receptor-associated kinase 4 and nuclear factor- κB.
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- Immunology, 2014, v. 143, n. 3, p. 331, doi. 10.1111/imm.12260
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- Publication type:
- Article
Prevention of varicella in children with cancer: Is it time to reconsider our strategy?
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- Pediatric Blood & Cancer, 2008, v. 51, n. 4, p. 451, doi. 10.1002/pbc.21680
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- Publication type:
- Article
Biliary Cirrhosis in a Child with Inherited Interleukin-12 Deficiency.
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- Journal of Tropical Pediatrics, 2008, v. 54, n. 4, p. 269, doi. 10.1093/tropej/fmm119
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- Publication type:
- Article
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
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- Bioinformatics, 2012, v. 28, n. 21, p. 2747, doi. 10.1093/bioinformatics/bts526
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- Publication type:
- Article
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
- Published in:
- 2015
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- Publication type:
- journal article
Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.
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- Clinical Pharmacology & Therapeutics, 2020, v. 108, n. 2, p. 264, doi. 10.1002/cpt.1715
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- Publication type:
- Article
T Cells in Preterm Infants and the Influence of Milk Diet.
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- Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01035
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- Publication type:
- Article
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01699-5
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- Publication type:
- Article
Outcome of Second Allogeneic HSCT for Patients with Inborn Errors of Immunity: Retrospective Study of 20 Years' Experience.
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- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1812, doi. 10.1007/s10875-023-01549-w
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- Publication type:
- Article
Risk of Herpes Zoster in Adults Immunized with Varicella Vaccine.
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- Journal of Infectious Diseases, 2008, v. 197, p. S196, doi. 10.1086/522131
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- Publication type:
- Article
Life-Threatening Influenza, Hemophagocytic Lymphohistiocytosis and Probable Vaccine-Strain Varicella in a Novel Case of Homozygous STAT2 Deficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.624415
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- Publication type:
- Article