HSCT for DOCK8 Deficiency - an International Study on 74 Patients

被引：1

作者：

Aydin, Susanne ^{[1
]}

Freeman, Alexandra F. ^{[2
]}

Su, Helen ^{[2
]}

Hickstein, Dennis ^{[3
]}

Pai, Sung-Yun ^{[4
]}

Geha, Raif ^{[5
]}

Chatila, Talal ^{[5
]}

Arnaout, Rand K. ^{[6
]}

Al-Mousa, Hamoud ^{[7
]}

Al-Dhekri, Hasan ^{[8
]}

Renner, Ellen D. ^{[1
]}

Belohradsky, Bernd H. ^{[1
]}

Notheis, Gundula ^{[1
]}

Aydin, Roland ^{[9
]}

Gaspar, Bobby H. ^{[10
]}

Al-Herz, Waleed ^{[11
]}

Gennery, Andrew ^{[12
]}

Slatter, Mary ^{[13
]}

Metin, Ayse ^{[14
]}

Isik, Pamir ^{[15
]}

Azik, Fatih ^{[15
]}

Ikinciogullari, Aydan ^{[16
,17
]}

Haskologlu, Sule

Dogu, Figen

Kumar, Ashish ^{[18
]}

Ifversen, Marianne ^{[19
]}

Schuster, Friedhelm ^{[20
]}

Woessmann, Wilhelm ^{[21
]}

Bredius, Robbert ^{[22
]}

Barlogis, Vincent ^{[23
]}

Kainulainen, Leena ^{[24
]}

Picard, Capucine ^{[25
,26
]}

Neven, Benedicte ^{[27
]}

Shereck, Evan ^{[28
]}

Schulz, Ansgar ^{[29
]}

Dueckers, Gregor ^{[30
]}

Van Montfrans, Joris ^{[31
]}

Matthes-Martin, Susanne ^{[32
]}

Keles, Sevgi ^{[33
]}

Ochs, Hans ^{[34
,35
]}

Albert, Michael H. ^{[36
]}

机构：

[1] Dr von Hauner Univ Childrens Hosp, Munich, Germany

[2] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA

[3] NCI, Expt Transplantat & Immunol Branch, Bethesda, MD 20892 USA

[4] Boston Childrens Hosp, Hematol Oncol, Boston, MA USA

[5] Boston Childrens Hosp, Div Immunol, Boston, MA USA

[6] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Pediat Allergy & Immunol, Riyadh 11211, Saudi Arabia

[7] King Faisal Specialist Hosp & Res Ctr, Pediat, Riyadh 11211, Saudi Arabia

[8] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Pediat Allergy & Immunol, Riyadh 11211, Saudi Arabia

[9] Tech Univ Munich, D-80290 Munich, Germany

[10] UCL, Inst Child Hlth, London, England

[11] Kuwait Univ, Dept Pediat, Fac Med, Kuwait, Kuwait

[12] Newcastle Univ, Paediat Immunol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[13] Great North Childrens Hosp, Newcastle Upon Tyne, Tyne & Wear, England

[14] SB Ankara Diskapi Childrens Hosp, Pediat Immunol Unit, Ankara, Turkey

[15] Ankara Childrens Hematol & Oncol Educ & Res Hosp, Clin Pediat Hematol, Ankara, Turkey

[16] Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, TR-06100 Ankara, Turkey

[17] Ankara Univ, Sch Med, BMT Unit, TR-06100 Ankara, Turkey

[18] Cincinnati Childrens Hosp Med Ctr, Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA

[19] Copenhagen Univ Hosp, Rigshosp, Paediat Clin 2, Copenhagen, Denmark

[20] Univ Munich, Kinderklin, Abt Hamatol Onkol, D-80539 Munich, Germany

[21] Univ Giessen, Dept Pediat Hematol & Oncol, D-35390 Giessen, Germany

[22] Leiden Univ, Med Ctr, Leiden, Netherlands

[23] Aix Marseille Univ, La Timone Hosp, APHM, Dept Paediat Haematol Oncol, Marseille, France

[24] Turku Univ Hosp, Dept Pediat, FIN-20520 Turku, Finland

[25] Necker Enfant Malad Hosp, AP HP, Pediat Hematol Immunol Unit, Paris, France

[26] Paris Descartes Univ, Sorbonne Paris Cite, Lab Human Genet Infect Dis, Necker Branch,INSERM,UMR1163,Imagine Inst, Paris, France

[27] Hop Univ Necker Enfants Malad, Paris, France

[28] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[29] Univ Ulm Klinikum, Klin Kinder, Ulm, Germany

[30] HELIOS Childrens Hosp Krefeld, Krefeld, Germany

[31] UMCU, Pediat Immunol, Utrecht, Netherlands

[32] St Anna Childrens Hosp, BMT Unit, A-1090 Vienna, Austria

[33] Konya Necmettin Erbakan Univ, Konya, Turkey

[34] Univ Washington, Pediat, Seattle, WA 98195 USA

[35] Seattle Childrens, Seattle, WA USA

[36] Dr von Hauner Univ Childrens Hosp, Pediat Hematol Oncol, Munich, Germany

来源：

BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION | 2016年 / 22卷 / 03期

关键词：

D O I：

10.1016/j.bbmt.2015.11.406

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

108

引用

页码：S103 / S104

页数：2

共 50 条

[21] Early Diagnosis in Dedicator of Cytokinesis 8 (DOCK8) Deficiency
Chang, Deidre R.
Toh, Jennifer
de Vos, Gabriele
Gavrilova, Tatyana
JOURNAL OF PEDIATRICS, 2016, 179 : 33 - 35
[22] The Diagnostic Value of Flow Cytometry in DOCK8 Deficiency
Ogulur, Ismail
Kiykim, Ayca
Nain, Ercan
Kasap, Nurhan
Akgun, Gamze
Karakoc-Aydiner, Elif
Ozen, Ahmet
Baris, Safa
TURKISH JOURNAL OF IMMUNOLOGY, 2019, 7 (02): : 102 - 106
[23] DOCK8 deficiency with mediastinal lymph node tuberculosis
Zhang, Lin-Qian
Li, Xiao-Bing
Bao, Yun-Guang
WORLD JOURNAL OF PEDIATRICS, 2020, 16 (02) : 213 - 214
[24] Dock8 Deficiency and Guilain-Barre Syndrome
Segundo, G. Rodrigues Silva
Strozzi, D.
JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 : S107 - S107
[25] Grave aortic aneurysmal dilatation in DOCK8 deficiency
Al Mutairi, Muna
Al-Mousa, Hamoud
AlSaud, Bander
Hawwari, Abbas
AlJoufan, Mansour
AlWesaibi, Abdulkarim
AlHalees, Zohair
Al-Mayouf, Sulaiman M.
MODERN RHEUMATOLOGY, 2014, 24 (04) : 690 - 693
[26] DOCK8 Deficiency Exacerbates Skin Contact Hypersensitivity
Wilkie, Hazel
Leyva-Castillo, Juan-Manuel
Janssen, Erin Margaret
Geha, Raif S.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 143 (02) : AB65 - AB65
[27] Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
Pillay, Bethany A.
Fusaro, Mathieu
Gray, Paul E.
Statham, Aaron L.
Burnett, Leslie
Bezrodnik, Liliana
Kane, Alisa
Tong, Winnie
Abdo, Chrystelle
Winter, Sarah
Chevalier, Samuel
Levy, Romain
Masson, Cecile
Schmitt, Yohann
Bole, Christine
Malphettes, Marion
Macintyre, Elizabeth
Villartay, Jean-Pierre De
Ziegler, John B.
Smart, Joanne M.
Peake, Jane
Aghamohammadi, Asghar
Hammarstrom, Lennart
Abolhassani, Hassan
Picard, Capucine
Fischer, Alain
Latour, Sylvain
Neven, Benedicte
Tangye, Stuart G.
Ma, Cindy S.
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (03)
[28] Partial vs. Complete DOCK8 Deficiency
Ruiz-Garcia, R.
Rodriguez-Pena, R.
Martinez-Lostao, L.
Mora-Diaz, S.
Paz-Artal, E.
Ruiz-Contreras, J.
Anel, A.
Lopez-Granados, E.
Gonzalez-Granado, L. I.
Allende, L. M.
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S465 - S465
[29] Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency
Mandola, Amarilla B.
Levy, Jacov
Nahum, Amit
Hadad, Nurit
Levy, Rachel
Rylova, Anna
Simon, Amos J.
Lev, Atar
Somech, Raz
Broides, Arnon
IMMUNOLOGICAL INVESTIGATIONS, 2019, 48 (04) : 431 - 439
[30] Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency
Liquidano-Perez, Eduardo
Maza-Ramos, Gibert
Arias, Bethy Alexandra Perez
Reyes, Saul Oswaldo Lugo
Arevalo, Tania Barragan
Solorzano-Morales, Sara Alejandra
Montoya, Edna Venegas
Staines-Boone, Aide Tamara
Cotaya, Rogelio Guzman
Okada, Satoshi
Picard, Capucine
Patin, Etienne
Ramirez-Uribe, Nideshda
Bustamante-Ogando, Juan Carlos
Scheffler-Mendoza, Selma Cecilia
Yamazaki-Nakashimada, Marco Antonio
Saez-de-Ocariz, Marimar
Padilla, Sara Elva Espinosa
Gonzalez-Serrano, Maria Edith
PEDIATRIC ALLERGY AND IMMUNOLOGY, 2024, 35 (02)

← 1 2 3 4 5 →