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Journal of Clinical Immunology
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Papers 3158
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#1Pavla Hujová (Masaryk University)H-Index: 1
#2Přemysl Souček (Central European Institute of Technology)H-Index: 1
Last.Tomáš Freiberger (Masaryk University)H-Index: 20
view all 9 authors...
Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels of ineffective C1 inhibitor (type II HAE), typically occurring as a consequence of a SERPING1 mutation. In some cases, a causal mutation remains undetected after using a standard molecular genetic analysis. Here we show a long methodological way to the final discovery of c.1029 + 384A > G, a novel deep intronic mutation in intron 6 which is r...
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#1Sukru Cekic (Uludağ University)H-Index: 2
#2Julia M. Hartberger (University of Freiburg)H-Index: 2
Last.Tolga Cavas (Uludağ University)H-Index: 8
view all 12 authors...
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#1Vibhu KrishnanH-Index: 6
#2Prasad TaurH-Index: 3
Last.Mukesh DesaiH-Index: 8
view all 5 authors...
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#1Giorgia Bucciol (Katholieke Universiteit Leuven)H-Index: 2
#2Bethany Pillay (UNSW: University of New South Wales)H-Index: 5
Last.Isabelle Meyts (Katholieke Universiteit Leuven)H-Index: 30
view all 14 authors...
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#1Aminaa Siddiqi (Stanford University)
#2Anne Y. Liu (Stanford University)H-Index: 7
Last.Yael Gernez (Stanford University)H-Index: 12
view all 11 authors...
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#1Yanping Wang (CQMU: Chongqing Medical University)H-Index: 3
#2Xuemei Chen (CQMU: Chongqing Medical University)H-Index: 16
Last.Xiaodong Zhao (CQMU: Chongqing Medical University)H-Index: 2
view all 10 authors...
Activated PI3Kδ syndrome 1 is a primary immunodeficiency disease, usually caused by heterozygous mutations in PIK3CD. We aimed to identify the cause of homozygous mutation at c.G3061A (p.E1021K) in a patient and the effect of allele dose in this mutation. Genomic DNA from the parent-child trio was analyzed by next-generation sequencing. We performed phenotypic analyses in the patient and in Pik3cdE1024K+/+ mice. The patient was a girl harboring a homozygous mutation for p.E1021K in PIK3CD. At th...
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#1Stuart G. Tangye (UNSW: University of New South Wales)H-Index: 70
#2Waleed Al-Herz (Kuniv: Kuwait University)H-Index: 32
Last.Kathleen E. Sullivan (Children's Hospital of Philadelphia)H-Index: 33
view all 17 authors...
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 416 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies...
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#1Laura PerezH-Index: 23
#2Fernando MessinaH-Index: 2
Last.Gabriela SantisoH-Index: 4
view all 10 authors...
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