Found: 33
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Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Exome sequencing reveals gain-offunction mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients.
- Published in:
- Revista Alergia de Mexico, 2018, v. 65, p. 114
- By:
- Publication type:
- Article
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 775, doi. 10.1111/ped.12111
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- Publication type:
- Article
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27085-y
- By:
- Publication type:
- Article
Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00568
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- Publication type:
- Article
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 619, doi. 10.1007/s00439-010-0822-7
- By:
- Publication type:
- Article
Downregulation of endothelial nitric oxide synthase (eNOS) and endothelin-1 (ET-1) in a co-culture system with human stimulated X-linked CGD neutrophils.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230665
- By:
- Publication type:
- Article
A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.517544
- By:
- Publication type:
- Article
Novel STAT‐3 gain‐of‐function variant with hypogammaglobulinemia and recurrent infection phenotype.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 205, n. 3, p. 354, doi. 10.1111/cei.13625
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- Publication type:
- Article
Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.
- Published in:
- Rheumatology, 2009, v. 48, n. 6, p. 706, doi. 10.1093/rheumatology/kep061
- By:
- Publication type:
- Article
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01720-x
- By:
- Publication type:
- Article
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01634-0
- By:
- Publication type:
- Article
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01601-9
- By:
- Publication type:
- Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 466, doi. 10.1007/s10875-022-01396-1
- By:
- Publication type:
- Article
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1360, doi. 10.1007/s10875-022-01308-3
- By:
- Publication type:
- Article
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 975, doi. 10.1007/s10875-021-00988-7
- By:
- Publication type:
- Article
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 4, p. 780, doi. 10.1007/s10875-021-00975-y
- By:
- Publication type:
- Article
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 125, doi. 10.1007/s10875-020-00885-5
- By:
- Publication type:
- Article
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 1, p. 28, doi. 10.1007/s10875-015-0221-x
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- Publication type:
- Article
Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 512, doi. 10.1007/s10875-015-0165-1
- By:
- Publication type:
- Article
Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 5, p. 762, doi. 10.1007/s10875-011-9560-4
- By:
- Publication type:
- Article
Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus.
- Published in:
- International Journal of Hematology, 2021, v. 113, n. 2, p. 302, doi. 10.1007/s12185-020-03004-7
- By:
- Publication type:
- Article
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 15, doi. 10.3390/ijns10010015
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- Publication type:
- Article
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 62, doi. 10.3390/ijns9040062
- By:
- Publication type:
- Article
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
- Published in:
- International Immunology, 2020, v. 32, n. 10, p. 663, doi. 10.1093/intimm/dxaa043
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- Publication type:
- Article
Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice.
- Published in:
- International Immunology, 2020, v. 32, n. 4, p. 259, doi. 10.1093/intimm/dxz079
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- Publication type:
- Article
Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.
- Published in:
- British Journal of Haematology, 2013, v. 160, n. 4, p. 521, doi. 10.1111/bjh.12160
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- Publication type:
- Article
Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease.
- Published in:
- Human Mutation, 2012, v. 33, n. 9, p. 1377, doi. 10.1002/humu.22113
- By:
- Publication type:
- Article
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 8, p. 1, doi. 10.1007/s10875-024-01776-9
- By:
- Publication type:
- Article
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
- By:
- Publication type:
- Article
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
- By:
- Publication type:
- Article