A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

被引：80

作者：

Kilic, Sara S. ^{[1
]}

Hacimustafaoglu, Mustafa ^{[1
]}

Boisson-Dupuis, Stephanie ^{[2
,3
,4
]}

Kreins, Alexandra Y. ^{[3
,5
]}

Grant, Audrey V. ^{[2
,3
,4
]}

Abel, Laurent ^{[2
,3
,4
]}

Casanova, Jean-Laurent ^{[2
,3
,4
]}

机构：

[1] Uludag Univ, Dept Pediat, Sch Med, TR-16069 Gorukle, Bursa, Turkey

[2] INSERM, Lab Human Genet Infect Dis, Necker Branch, U980, Paris, France

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

[4] Univ Paris 05, Necker Med Sch, Paris, France

[5] Weill Cornell Grad Sch Med Sci, Grad Program Immunol & Microbial Pathogenesis, New York, NY USA

来源：

JOURNAL OF PEDIATRICS | 2012年 / 160卷 / 06期

基金：

美国国家卫生研究院;

关键词：

MUTATIONS; IMMUNITY; DOCK8;

D O I：

10.1016/j.jpeds.2012.01.056

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and cutaneous herpes zoster infection. Tyrosine kinase 2 deficiency should be considered in patients susceptible to herpes viruses and intramacrophage pathogens even in the absence of atopy, high serum IgE, and staphylococcal disease. (J Pediatr 2012; 160:1055-7)

引用

页码：1055 / 1057

页数：3

共 10 条

[1] Neurobrucellosis: an evaluation of a rare presentation of brucellosis from a tertiary care centre in Central Anatolia, Turkey
Demiraslan, Hayati
Metan, Gokhan
Mese, Emine Alp
Yildiz, Orhan
Aygen, Bilgehan
Sumerkan, Bulent
Doganay, Mehmet
[J]. TROPICAL DOCTOR, 2009, 39 (04) : 233 - 235
[2] Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
Engelhardt, Karin R.
McGhee, Sean
Winkler, Sabine
Sassi, Atfa
Woellner, Cristina
Lopez-Herrera, Gabriela
Chen, Andrew
Kim, Hong Sook
Lloret, Maria Garcia
Schulze, Ilka
Ehl, Stephan
Thiel, Jens
Pfeifer, Dietmar
Veelken, Hendrik
Niehues, Tim
Siepermann, Kathrin
Weinspach, Sebastian
Reisli, Ismail
Keles, Sevgi
Genel, Ferah
Kutuculer, Necil
Camcioglu, Yildiz
Somer, Ayper
Karakoc-Aydiner, Elif
Barlan, Isil
Gennery, Andrew
Metin, Ayse
Degerliyurt, Aydan
Pietrogrande, Maria C.
Yeganeh, Mehdi
Baz, Zeina
Al-Tamemi, Salem
Klein, Christoph
Puck, Jennifer M.
Holland, Steven M.
McCabe, Edward R. B.
Grimbacher, Bodo
Chatila, Talal A.
[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) : 1289 - 1302
[3] Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency:: Medical and immunological implications
Fieschi, C
Dupuis, S
Catherinot, E
Feinberg, J
Bustamante, J
Breiman, A
Altare, F
Baretto, R
Le Deist, F
Kayal, S
Koch, H
Richter, D
Brezina, M
Aksu, G
Wood, P
Al-Jumaah, S
Raspall, M
Duarte, AJD
Tuerlinckx, D
Virelizier, JL
Fischer, A
Enright, A
Bernhöft, J
Cleary, AM
Vermylen, C
Rodriguez-Gallego, C
Davies, G
Blütters-Sawatzki, R
Siegrist, CA
Ehlayel, MS
Novelli, V
Haas, WH
Levy, J
Freihorst, J
Al-Hajar, S
Nadal, D
Vasconcelos, DD
Jeppsson, O
Kutukculer, N
Frecerova, K
Caragol, I
Lammas, D
Kumararatne, DS
Abel, L
Casanova, JL
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 197 (04) : 527 - 535
[4] Inborn errors of IL-12/23- and IFN-γ-mediated immunity:: molecular, cellular, and clinical features
Filipe-Santos, Orchidee
Bustamante, Jacinta
Chapgier, Ariane
Vogt, Guillaume
de Beaucoudrey, Ludovic
Feinberg, Jacqueline
Jouanguy, Emmanuelle
Boisson-Dupuis, Stephanie
Fieschi, Claire
Picard, Capucine
Casanova, Jean-Laurent
[J]. SEMINARS IN IMMUNOLOGY, 2006, 18 (06) : 347 - 361
[5] STAT3 mutations in the hyper-IgE syndrome
Holland, Steven M.
Deleo, Frank R.
Elloumi, Houda Z.
Hsu, Amy P.
Uzel, Gulbu
Brodsky, Nina
Freeman, Alexandra F.
Demidowich, Andrew
Davis, Joie
Turner, Maria L.
Anderson, Victoria L.
Darnell, Dirk N.
Welch, Pamela A.
Kuhns, Douglas B.
Frucht, David M.
Malech, Harry L.
Gallin, John I.
Kobayashi, Scott D.
Whitney, Adeline R.
Voyich, Jovanka M.
Musser, James M.
Woellner, Cristina
Schaeffer, Alejandro A.
Puck, Jennifer M.
Grimbacher, Bodo
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (16) : 1608 - 1619
[6] Human primary immunodeficiencies of type I interferons
Jouanguy, Emmanuelle
Zhang, Shen-Ying
Chapgier, Ariane
Sancho-Shimizu, Vanessa
Puel, Anne
Picard, Capucine
Boisson-Dupuis, Stephanie
Abel, Laurent
Casanova, Jean-Laurent
[J]. BIOCHIMIE, 2007, 89 (6-7) : 878 - 883
[7] Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
Minegishi, Yoshiyuki
Saito, Masako
Tsuchiya, Shigeru
Tsuge, Ikuya
Takada, Hidetoshi
Hara, Toshiro
Kawamura, Nobuaki
Ariga, Tadashi
Pasic, Srdjan
Stojkovic, Oliver
Metin, Ayse
Karasuyama, Hajime
[J]. NATURE, 2007, 448 (7157) : 1058 - U10
[8] Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
Minegishi, Yoshiyuki
Saito, Masako
Morio, Tomohiro
Watanabe, Ken
Agematsu, Kazunaga
Tsuchiya, Shigeru
Takada, Hidetoshi
Hara, Toshiro
Kawamura, Nobuaki
Ariga, Tadashi
Kaneko, Hideo
Kondo, Naomi
Tsuge, Ikuya
Yachie, Akihiro
Sakiyama, Yukio
Iwata, Tsutomu
Bessho, Fumio
Ohishi, Tsutomu
Joh, Kosuke
Imai, Kohsuke
Kogawa, Kazuhiro
Shinohara, Miwa
Fujieda, Mikiya
Wakiguchi, Hiroshi
Pasic, Srdjan
Abinun, Mario
Ochs, Hans D.
Renner, Eleonore D.
Jansson, Annette
Belohradsky, Bernd H.
Ayse, Metin
Shimizu, Norio
Mizutani, Shuki
Miyawaki, Toshio
Nonoyama, Shigeaki
Karasuyama, Hajime
[J]. IMMUNITY, 2006, 25 (05) : 745 - 755
[9] DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice
Randall, Katrina L.
Chan, Stephanie S. -Y.
Ma, Cindy S.
Fung, Ivan
Mei, Yan
Yabas, Mehmet
Tan, Andy
Arkwright, Peter D.
Al Suwairi, Wafaa
Lugo Reyes, Saul Oswaldo
Yamazaki-Nakashimada, Marco A.
de la Luz Garcia-Cruz, Maria
Smart, Joanne M.
Picard, Capucine
Okada, Satoshi
Jouanguy, Emmanuelle
Casanova, Jean-Laurent
Lambe, Teresa
Cornall, Richard J.
Russell, Sarah
Oliaro, Jane
Tangye, Stuart G.
Bertram, Edward M.
Goodnow, Christopher C.
[J]. JOURNAL OF EXPERIMENTAL MEDICINE, 2011, 208 (11) : 2305 - 2320
[10] Human Tyk2 kinase deficiency: Another primary immunodeficiency syndrome
Watford, Wendy T.
O'Shea, John J.
[J]. IMMUNITY, 2006, 25 (05) : 695 - 697

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