DOCK8 Large Genomic Deletions and Abdominal Vasculitis in Children with Autosomal Recessive hyper-IgE Syndrome

被引：0

作者：

Lugo Reyes, Saul Oswaldo ^{[1
]}

Okada, Satoshi ^{[2
]}

Antonio Yamazaki-Nakashimada, Marco ^{[3
]}

Prando, Carolina ^{[2
]}

Boisson-Dupuis, Stephanie ^{[2
]}

Casanova, Jean-Laurent ^{[2
]}

Picard, Capucine ^{[4
]}

机构：

[1] Natl Inst Pediat, Immunodeficiencies Res Unit, Mexico City, DF, Mexico

[2] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA

[3] Natl Inst Pediat, Dept Clin Immunol, Mexico City, DF, Mexico

[4] Univ Paris 05, Hop Necker Enfants Malad, Paris, France

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2012年 / 32卷 / 02期

关键词：

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：379 / 379

页数：1

共 50 条

[21] Successful treatment of severe eczema and plane warts with Dupilumab in a child with Dedicator of Cytokinesis 8 (DOCK8) deficiency (Autosomal recessive form of hyper-IgE syndrome)
Oyedepo, Jadesola
Worth, Austen
Solman, Lea
BRITISH JOURNAL OF DERMATOLOGY, 2024, 190 : I14 - I14
[22] Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion
Venegas-Montoya, Edna
Staines-Boone, Aide Tamara
Sanchez-Sanchez, Luz Maria
Garcia-Campos, Jorge Alberto
Cordova-Gurrola, Ruben Antonio
Salazar-Galvez, Yuridia
Muzquiz-Zermeno, David
Gonzalez-Serrano, Maria Edith
Lugo Reyes, Saul O.
FRONTIERS IN PEDIATRICS, 2021, 9
[23] Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Tangye, Stuart G.
Gray, Paul E.
Pillay, Bethany A.
Yap, Jin Yan
Figgett, William A.
Reeves, John
Kummerfeld, Sarah K.
Stoddard, Jennifer
Uzel, Gulbu
Jing, Huie
Su, Helen C.
Campbell, Dianne E.
Sullivan, Anna
Burnett, Leslie
Peake, Jane
Ma, Cindy S.
JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (01) : 119 - 129
[24] Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Stuart G. Tangye
Paul E. Gray
Bethany A. Pillay
Jin Yan Yap
William A. Figgett
John Reeves
Sarah K. Kummerfeld
Jennifer Stoddard
Gulbu Uzel
Huie Jing
Helen C. Su
Dianne E. Campbell
Anna Sullivan
Leslie Burnett
Jane Peake
Cindy S. Ma
Journal of Clinical Immunology, 2022, 42 : 119 - 129
[25] A Case of DOCK8 Deficient Hyper-IGE Syndrome Presenting as Eczema and Lung Disease
Melendez, S.
Del Rio, B.
Del Rio, J.
Partida, A.
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S256 - S256
[26] Clinical and Immunological Characterizations in Eleven Turkish Patients with Autosomal Recessive Hyper Ige Syndrome Caused by DOCK8 Mutation
Gulez, Nesrin
Keles, Sevgi
Genel, Ferah
Chatila, Talal A.
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (03) : 378 - 379
[27] DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome
Oktelik, Fatma Betul
Wang, Muyun
Keles, Sevgi
Gungor, Hatice Eke
Cansever, Murat
Can, Salim
Karakoc-Aydiner, Elif
Baris, Safa
Schmitz-Abe, Klaus
Benamar, Mehdi
Chatila, Talal A.
CLINICAL IMMUNOLOGY, 2024, 268
[28] Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome
Qin, Tao
An, Yunfei
Liu, Chaohong
Wu, Junfeng
Dai, Rongxin
Liu, Dawei
Li, Xiaohui
Jiang, Liping
Wu, Daoqi
Tang, Xuemei
Song, Wenxia
Wang, Tao
Zhao, Xiaodong
IMMUNOLOGIC RESEARCH, 2016, 64 (01) : 260 - 271
[29] Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome
Tao Qin
Yunfei An
Chaohong Liu
Junfeng Wu
Rongxin Dai
Dawei Liu
Xiaohui Li
Liping Jiang
Daoqi Wu
Xuemei Tang
Wenxia Song
Tao Wang
Xiaodong Zhao
Immunologic Research, 2016, 64 : 260 - 271
[30] A Case of DOCK8 Deficient Hyper-IgE Syndrome Presenting Primarily With Eczema, Food Allergy, and Asthma
Cavkaytar, Ozlem
Ayvaz, Deniz Cagdas
Keskin, Ozlem
Yilmaz, Ebru Arik
Buyuktiryaki, Betul
Sahiner, Umit Murat
Yavuz, Suleyman Tolga
Tuncer, Ayfer
Sackesen, Cansin
Sanal, Ozden
PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, 2013, 26 (01) : 48 - 51

← 1 2 3 4 5 →