DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection

被引：0

作者：

Yesil, Ayse Mete ^{[1
]}

Kayaoglu, Basak ^{[3
]}

Gul, Ersin ^{[3
]}

Gonc, Nazli ^{[4
]}

Ozon, Alev ^{[4
]}

Tezcan, Ilhan ^{[2
]}

Gursel, Mayda ^{[3
]}

cagdas, Deniz ^{[2
]}

机构：

[1] Hacettepe Univ, Dept Pediat, Fac Med, Ankara, Turkiye

[2] Hacettepe Univ, Dept Pediat Immunol, Fac Med, Ankara, Turkiye

[3] Middle East Tech Univ, Dept Biol Sci, Ankara, Turkiye

[4] Hacettepe Univ, Dept Pediat Endocrinol, Fac Med, Ankara, Turkiye

来源：

TURKISH JOURNAL OF PEDIATRICS | 2023年 / 65卷 / 03期

关键词：

dedicator of cytokinesis (DOCK8) deficiency; syndrome of inappropriate antidiuretic hormone secretion (SIADH); interferon response; HYPER; PHENOTYPE; DEDICATOR;

D O I：

10.24953/turkjped.2020.1934

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Background. Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity. Case. In this report, we describe a patient who first presented with severe hypereosinophilia and went on to develop the syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed the presence of underlying DOCK8 deficiency presenting with atypical clinical features. Conclusions. Distinct inflammatory features associated with infections may be seen in the course of primary immunodeficiency diseases, and early functional and molecular genetic tests will aid the proper management.

引用

页码：536 / 541

页数：6

共 14 条

[1] Successful interferon-alpha 2b therapy for unremitting warts in a patient with DOCK8 deficiency [J].

Al-Zahrani, Daifulah ;

Raddadi, Ali ;

Massaad, Michel ;

Keles, Sevgi ;

Jabara, Haifa H. ;

Chatila, Talal A. ;

Geha, Raif .

CLINICAL IMMUNOLOGY, 2014, 153 (01) :104-108

[2] Hypomorphic DOCK8 deletion causes hypereosinophilic syndrome [J].

Aryan, Zahra ;

Nabavi, Mohammad ;

Shabani, Mahsima ;

Keles, Sevgi ;

Zoghi, Samaneh ;

Chatila, Talal ;

Rezaei, Nima .

PEDIATRIC BLOOD & CANCER, 2020, 67 (02)

[3] DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients [J].

Aydin, Susanne E. ;

Kilic, Sara Sebnem ;

Aytekin, Caner ;

Kumar, Ashish ;

Porras, Oscar ;

Kainulainen, Leena ;

Kostyuchenko, Larysa ;

Genel, Ferah ;

Kutukculer, Necil ;

Karaca, Neslihan ;

Gonzalez-Granado, Luis ;

Abbott, Jordan ;

Al-Zahrani, Daifulah ;

Rezaei, Nima ;

Baz, Zeina ;

Thiel, Jens ;

Ehl, Stephan ;

Marodi, Laszlo ;

Orange, Jordan S. ;

Sawalle-Belohradsky, Julie ;

Keles, Sevgi ;

Holland, Steven M. ;

Sanal, Ozden ;

Ayvaz, Deniz C. ;

Tezcan, Ilhan ;

Al-Mousa, Hamoud ;

Alsum, Zobaida ;

Hawwari, Abbas ;

Metin, Ayse ;

Matthes-Martin, Susanne ;

Hoenig, Manfred ;

Schulz, Ansgar ;

Picard, Capucine ;

Barlogis, Vincent ;

Gennery, Andrew ;

Ifversen, Marianne ;

van Montfrans, Joris ;

Kuijpers, Taco ;

Bredius, Robbert ;

Duckers, Gregor ;

Al-Herz, Waleed ;

Pai, Sung-Yun ;

Geha, Raif ;

Notheis, Gundula ;

Schwarze, Carl-Philipp ;

Tavil, Betul ;

Azik, Fatih ;

Bienemann, Kirsten ;

Grimbacher, Bodo ;

Heinz, Valerie .

JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (02) :189-198

[4] A Case of DOCK8 Deficient Hyper-IgE Syndrome Presenting Primarily With Eczema, Food Allergy, and Asthma [J].

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

[5]

Cousland Z, 2011, SOC ENDOCRINOLOGY BE

[6] The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency [J].

Engelhardt, Karin R. ;

Gertz, Michael E. ;

Keles, Sevgi ;

Schaeffer, Alejandro A. ;

Sigmund, Elena C. ;

Glocker, Cristina ;

Saghafi, Shiva ;

Pourpak, Zahra ;

Ceja, Ruben ;

Sassi, Atfa ;

Graham, Laura E. ;

Massaad, Michel J. ;

Mellouli, Fethi ;

Ben-Mustapha, Imen ;

Khemiri, Monia ;

Kilic, Sara Sebnem ;

Etzioni, Amos ;

Freeman, Alexandra F. ;

Thiel, Jens ;

Schulze, Ilka ;

Al-Herz, Waleed ;

Metin, Ayse ;

Sanal, Oezden ;

Tezcan, Ilhan ;

Yeganeh, Mehdi ;

Niehues, Tim ;

Dueckers, Gregor ;

Weinspach, Sebastian ;

Patiroglu, Turkan ;

Unal, Ekrem ;

Dasouki, Majed ;

Yilmaz, Mustafa ;

Genel, Ferah ;

Aytekin, Caner ;

Kutukculer, Necil ;

Somer, Ayper ;

Kilic, Mehmet ;

Reisli, Ismail ;

Camcioglu, Yildiz ;

Gennery, Andrew R. ;

Cant, Andrew J. ;

Jones, Alison ;

Gaspar, Bobby H. ;

Arkwright, Peter D. ;

Pietrogrande, Maria C. ;

Baz, Zeina ;

Al-Tamemi, Salem ;

Lougaris, Vassilios ;

Lefranc, Gerard ;

Megarbane, Andre .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 136 (02) :402-412

[7] Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome [J].

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. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) :1289-1302

[8] The hyper-IgE syndromes [J].

Freeman, Alexandra F. ;

Holland, Steven M. .

IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2008, 28 (02) :277-+

[9] Brain abnormalities in patients with hyperimmunoglobulin E syndrome [J].

Freeman, Alexandra F. ;

Collura-Burke, Christina J. ;

Patronas, Nicholas J. ;

Ilcus, Lidia Stana ;

Darnell, Dirk ;

Davis, Joie ;

Puck, Jennifer M. ;

Holland, Steven M. .

PEDIATRICS, 2007, 119 (05) :E1121-E1125

[10]

Kuriki Ayako, 2008, Rinsho Shinkeigaku, V48, P184

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