Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients von Köker, Mustafa Yavuz, MD, PhD, Camcıoğlu, Yıldız, MD, van Leeuwen, Karin, BSc, Kılıç, Sara Şebnem, MD, Barlan, Işıl, MD, Yılmaz, Mustafa, MD, Metin, Ayşe, MD, PhD, de Boer, Martin, BSc, Avcılar, Hüseyin, MD, PhD, Patıroğlu, Türkan, MD, Yıldıran, Alişan, MD, Yeğin, Olcay, MD, Tezcan, İlhan, MD, PhD, Sanal, Özden, MD, Roos, Dirk, PhD

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Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells von Karampini, Ellie, Schillemans, Maaike, Hofman, Menno, van Alphen, Floris, de Boer, Martin, Kuijpers, Taco W, van den Biggelaar, Maartje, Voorberg, Jan, Bierings, Ruben

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Characterization of two novel mutations in IL-12R signaling in MSMD patients von Fayez, Elham Alipour, Koohini, Zahra, Koohini, Zohreh, Zamanzadeh, Hossein, de Boer, Martin, Roos, Dirk, Teimourian, Shahram

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Phenotypic variation in IgG receptors by nonclassical FCGR2C alleles von van der Heijden, Joris, Breunis, Willemijn B, Geissler, Judy, de Boer, Martin, van den Berg, Timo K, Kuijpers, Taco W

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Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience von Akar, Halil Tuna, Esenboga, Saliha, Cagdas, Deniz, Halacli, Sevil Oskay, Ozbek, Begum, van Leeuwen, Karin, de Boer, Martin, Tan, Cagman Sun, Köker, Yavuz, Roos, Dirk, Tezcan, Ilhan

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Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients von Kulkarni, Manasi, Hule, Gouri, de Boer, Martin, van Leeuwen, Karin, Kambli, Priyanka, Aluri, Jahnavi, Gupta, Maya, Dalvi, Aparna, Mhatre, Snehal, Taur, Prasad, Desai, Mukesh, Madkaikar, Manisha

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Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India von Rawat, Amit, Vignesh, Pandiarajan, Sudhakar, Murugan, Sharma, Madhubala, Suri, Deepti, Jindal, Ankur, Gupta, Anju, Shandilya, Jitendra Kumar, Loganathan, Sathish Kumar, Kaur, Gurjit, Chawla, Sanchi, Patra, Pratap Kumar, Khadwal, Alka, Saikia, Biman, Minz, Ranjana Walker, Aggarwal, Vaishali, Taur, Prasad, Pandrowala, Ambreen, Gowri, Vijaya, Desai, Mukesh, Kulkarni, Manasi, Hule, Gauri, Bargir, Umair, Kambli, Priyanka, Madkaikar, Manisha, Bhattad, Sagar, Ginigeri, Chetan, Kumar, Harish, Jayaram, Ananthvikas, Munirathnam, Deenadayalan, Sivasankaran, Meena, Raj, Revathi, Uppuluri, Ramya, Na, Fouzia, George, Biju, Lashkari, Harsha Prasada, Kalra, Manas, Sachdeva, Anupam, Seth, Shishir, Sabui, Tapas, Gupta, Aman, van Leeuwen, Karin, de Boer, Martin, Chan, Koon Wing, Imai, Kohsuke, Ohara, Osamu, Nonoyama, Shigeaki, Lau, Yu Lung, Singh, Surjit

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Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura von Breunis, Willemijn B., van Mirre, Edwin, Bruin, Marrie, Geissler, Judy, de Boer, Martin, Peters, Marjolein, Roos, Dirk, de Haas, Masja, Koene, Harry R., Kuijpers, Taco W.

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Hematologically important mutations: Leukocyte adhesion deficiency (second update) von Roos, Dirk, van Leeuwen, Karin, Madkaikar, Manisha, Kambli, Priyanka M., Gupta, Maya, Mathews, Vikram, Rawat, Amit, Kuhns, Douglas B., Holland, Steven M., de Boer, Martin, Kanegane, Hirokazu, Parvaneh, Nima, Lorenz, Myriam, Schwarz, Klaus, Klein, Christoph, Sherkat, Roya, Jafari, Mahbube, Wolach, Baruch, den Dunnen, Johan T., Kuijpers, Taco W., Köker, M. Yavuz

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Mannose-Binding Lectin Deficiency Facilitates Abdominal Candida Infections in Patients with Secondary Peritonitis von van Till, J W Olivier, Modderman, Piet W, de Boer, Martin, Hart, Margreet H L, Beld, Marcel G H M, Boermeester, Marja A

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Hematologically important mutations: Leukocyte adhesion deficiency (first update) von van de Vijver, Edith, Maddalena, Anne, Sanal, Özden, Holland, Steven M., Uzel, Gulbu, Madkaikar, Manisha, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Parvaneh, Nima, Fischer, Alain, Law, S.K. Alex, Klein, Nigel, Tezcan, F. Ilhan, Unal, Ekrem, Patiroglu, Turkan, Belohradsky, Bernd H., Schwartz, Klaus, Somech, Raz, Kuijpers, Taco W., Roos, Dirk

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LAD-1/variant syndrome is caused by mutations in FERMT3 von Kuijpers, Taco W., van de Vijver, Edith, Weterman, Marian A.J., de Boer, Martin, Tool, Anton T.J., van den Berg, Timo K., Moser, Markus, Jakobs, Marja E., Seeger, Karl, Sanal, Özden, Ünal, Sule, Çetin, Mualla, Roos, Dirk, Verhoeven, Arthur J., Baas, Frank

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Hematologically important mutations: X-linked chronic granulomatous disease (third update) von Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Roesler, Joachim, Lopez, Juan Alvaro, Ariga, Tadashi, Avcin, Tadej, de Boer, Martin, Bustamante, Jacinta, Condino-Neto, Antonio, Di Matteo, Gigliola, He, Jianxin, Hill, Harry R., Holland, Steven M., Kannengiesser, Caroline, Köker, M. Yavuz, Kondratenko, Irina, van Leeuwen, Karin, Malech, Harry L., Marodi, László, Nunoi, Hiroyuki, Stasia, Marie-José, Ventura, Anna Maria, Witwer, Carl T., Wolach, Baruch, Gallin, John I.

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Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma von van Beek, Anna E, Pouw, Richard B, Brouwer, Mieke C, van Mierlo, Gerard, Geissler, Judy, Ooijevaar-de Heer, Pleuni, de Boer, Martin, van Leeuwen, Karin, Rispens, Theo, Wouters, Diana, Kuijpers, Taco W

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Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: including one novel mutation von Teimourian, Shahram, Boer, Martin De, Roos, Dirk, Isaian, Anna, Moghanloo, Ehsan, Lashkary, Sharhzad, Hassani, Bita, Mollanoori, Hasan, Babaei, Vahid, Azarnezhad, Asaad

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Mutation in an exonic splicing enhancer site causing chronic granulomatous disease von de Boer, Martin, van Leeuwen, Karin, Geissler, Judy, Belohradsky, Bernd H., Kuijpers, Taco W., Roos, Dirk

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Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update) von Roos, Dirk, Kuhns, Douglas B., Maddalena, Anne, Bustamante, Jacinta, Kannengiesser, Caroline, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Wolach, Baruch, Roesler, Joachim, Malech, Harry L., Holland, Steven M., Gallin, John I., Stasia, Marie-José

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Mutations in cis that affect mRNA synthesis, processing and translation von Roos, Dirk, de Boer, Martin

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A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation von van de Vosse, Esther, van Wengen, Annelies, van Geelen, Jos A, de Boer, Martin, Roos, Dirk, van Dissel, Jaap T

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Epac1-Rap1 signaling regulates monocyte adhesion and chemotaxis von Lorenowicz, Magdalena J., Gils, Janine, Boer, Martin, Hordijk, Peter L., Fernandez‐Borja, Mar

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