相似文献
1
Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
J Allergy Clin Immunol. 2015 Aug;136(2):476-9.e6. doi: 10.1016/j.jaci.2015.02.040. Epub 2015 May 14.
2
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.
Nature. 2002 Sep 26;419(6905):395-9. doi: 10.1038/nature01063.
3
RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8.
J Allergy Clin Immunol. 2016 Jul;138(1):289-292.e6. doi: 10.1016/j.jaci.2015.11.033. Epub 2016 Feb 13.
4
Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.
J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29.
5
[New primary immune deficiencies associated with combined variable immune deficiencies].
Rev Med Interne. 2005 Oct;26 Spec No 1:3-6.
6
Novel CD3Z and CD3E Deficiency in Two Unrelated Females.
J Clin Immunol. 2021 Jul;41(5):1116-1118. doi: 10.1007/s10875-021-01010-w. Epub 2021 Mar 2.
7
Update on primary immunodeficiency: defects of lymphocytes.
Clin Immunol. 2003 Nov;109(2):109-18. doi: 10.1016/s1521-6616(03)00183-9.
8
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.
J Allergy Clin Immunol. 2015 Aug;136(2):479-482.e1. doi: 10.1016/j.jaci.2015.03.050. Epub 2015 Jun 9.
9
Letter: T and B cell characteristics in combined immunodeficiency.
N Engl J Med. 1974 Sep 26;291(13):678. doi: 10.1056/NEJM197409262911313.
10
Combined (B- and T-lymphocyte) immunodeficiency: a fatal genetic disease in Arabian foals.
J Am Vet Med Assoc. 1974 Jan 1;164(1):70-6.
引用本文的文献
1
A novel splice donor mutation in caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review.
Front Oncol. 2023 Oct 12;13:1282678. doi: 10.3389/fonc.2023.1282678. eCollection 2023.
2
Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling.
Front Immunol. 2022 Jun 30;13:906328. doi: 10.3389/fimmu.2022.906328. eCollection 2022.
3
The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.
Front Immunol. 2022 Jan 31;13:837243. doi: 10.3389/fimmu.2022.837243. eCollection 2022.
4
JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level.
Genomics Proteomics Bioinformatics. 2022 Dec;20(6):1197-1206. doi: 10.1016/j.gpb.2021.06.003. Epub 2022 Jan 25.
5
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
J Clin Immunol. 2019 Aug;39(6):577-591. doi: 10.1007/s10875-019-00656-x. Epub 2019 Jun 28.
6
Application of Flow Cytometry in Primary Immunodeficiencies: Experience From India.
Front Immunol. 2019 Jun 11;10:1248. doi: 10.3389/fimmu.2019.01248. eCollection 2019.
7
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019.
8
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
J Clin Immunol. 2018 Nov;38(8):898-916. doi: 10.1007/s10875-018-0567-y. Epub 2018 Nov 23.
9
Use of Genetic Testing for Primary Immunodeficiency Patients.
J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19.
10
Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).
Curr Allergy Asthma Rep. 2018 Feb 22;18(3):19. doi: 10.1007/s11882-018-0770-1.
本文引用的文献
1
Clinical application of exome sequencing in undiagnosed genetic conditions.
J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11.
2
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158.
3
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.
4
Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.
Scand J Immunol. 2009 Feb;69(2):169-73. doi: 10.1111/j.1365-3083.2008.02198.x.
5
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Hum Mutat. 2006 Dec;27(12):1218-29. doi: 10.1002/humu.20413.
6
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9.
7
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes.
Blood. 2001 Jan 1;97(1):305-11. doi: 10.1182/blood.v97.1.305.
8
RAG mutations in human B cell-negative SCID.
Science. 1996 Oct 4;274(5284):97-9. doi: 10.1126/science.274.5284.97.
9
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
J Clin Invest. 1996 Jan 1;97(1):196-201. doi: 10.1172/JCI118389.
Zotero 插件