Ausgabe 3/2019
Inhalt (20 Artikel)
Successful Treatment of Sinusitis with Topical Human Milk in a Lymphoma Patient Using Rituximab
Nise Yamaguchi, Patricia Palmeira, Magda Carneiro-Sampaio
EBV-Related Hodgkin Lymphoma in an ICF2 Patient: Is EBV Susceptibility a Hallmark of This ICF Subtype?
Francesco Licciardi, Marlinde van den Boogaard, Marta Delle Piane, Pier Angelo Tovo, Davide Montin
Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses
Tania Siahanidou, Eirini Nikaina, Christina Kontogiorgou, Marianna Tzanoudaki, Kalliopi Stefanaki, Anna-Venetia Skiathitou, Theoni Petropoulou, Maria Kanariou
Revisiting Fatal Granulomatous Disease of Childhood Through an Autopsy: Still Lethal in the Developing World!
Rakesh Kumar Pilania, Ashwini Prithvi, Kaniyappan Nambiyar, Kirti Gupta, Amit Rawat
Different Clonal T-Large Granular Lymphocyte Proliferations in SCID
Süreyya Savaşan, Erin Wakeling, Tristan Knight, Steven Buck, Manisha Gadgeel
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
Laura Rice, Claire Stockdale, Ian Berry, Sean O’Riordan, Karen Pysden, Rashida Anwar, Roger Rushambuza, Moira Blyth, Sonal Srikanth, Yousang Gwack, Yasser M. El-Sherbiny, Clive Carter, Sinisa Savic
Interferon-γ Receptor 1 Deficiency Corrected by Umbilical Cord Blood Transplantation
Thomas F. Michniacki, Kelly J. Walkovich, David G. Frame, Mark T. Vander Lugt
Interleukin-36 Receptor Antagonist Deficiency (DITRA) with a Novel IL36RN Homozygous Mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman
Andres F. Zea-Vera, Felipe E. Estupiñan-Lopez, Jaqueline Cifuentes-Burbano, Myriam J. Vargas, Anilza Bonelo
Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency
Yuko Ichimiya, Motoshi Sonoda, Masataka Ishimura, Shunsuke Kanno, Shouichi Ohga
Granule Cell Neuronopathy in a Patient with Common Variable Immunodeficiency
Andrew McLean-Tooke, Constantine Chris Phatouros, Glenys Chidlow, David W Smith, Peter Silbert
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Christopher M. Watson, Claire Stockdale, Ian Berry, Laura A. Crinnion, Ian M. Carr, Andrew Cant, David T. Bonthron, Sinisa Savic
A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency
Faranaz Atschekzei, Roland Jacobs, Martin Wetzke, Georgios Sogkas, Claudia Schröder, Gerrit Ahrenstorf, Akshay Dhingra, Hagen Ott, Ulrich Baumann, Reinhold Ernst Schmidt
Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
Shokouh Azam Sarrafzadeh, Maryam Nourizadeh, Maryam Mahloojirad, Mohammad Reza Fazlollahi, Raheleh Shokouhi Shoormasti, Mohsen Badalzadeh, Caroline Deswarte, Jean-Laurent Casanova, Zahra Pourpak, Jacinta Bustamante, Mostafa Moin
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Leen Moens, Mieke Gouwy, Barbara Bosch, Oleksandr Pastukhov, Alejandro Nieto-Patlàn, Ulrich Siler, Giorgia Bucciol, Djalila Mekahli, François Vermeulen, Lars Desmet, Sophie Maebe, Helena Flipts, Anniek Corveleyn, Despina Moshous, Pierre Philippet, Stuart G. Tangye, Bertrand Boisson, Jean-Laurent Casanova, Benoit Florkin, Sofie Struyf, Janine Reichenbach, Jacinta Bustamante, Luigi D. Notarangelo, Isabelle Meyts
Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations
Bijun Sun, Qiuyu Chen, Xiaolong Dong, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Haili Yao, Jinqiao Sun, Xiaochuan Wang
Clinical Features and HSCT Outcome for SCID in Turkey
Aydan Ikinciogullari, Deniz Cagdas, Figen Dogu, Tuba Tugrul, Gulsum Karasu, Sule Haskologlu, Serap Aksoylar, Vedat Uygun, Alphan Kupesiz, Alisan Yildiran, Orhan Gursel, Can Ates, Atilla Elhan, Savas Kansoy, Akif Yesilipek, Ilhan Tezcan
Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2
Charlotte A. Slade, Catriona McLean, Thomas Scerri, Tran Binh Giang, Steven Megaloudis, Alexander Strathmore, Jessica C. Tempany, Katherine Nicholls, Colleen D’Arcy, Melanie Bahlo, Philip D. Hodgkin, Jo A. Douglass, Vanessa L. Bryant
Altered Peripheral Blood Leucocyte Phenotype and Responses in Healthy Individuals with Homozygous Deletion of FHR1 and FHR3 Genes
Angika Bhasym, Bahadur Singh Gurjar, Savit Prabhu, Mamta Puraswani, Priyanka Khandelwal, Himanshi Saini, Savita Saini, Priyadarshini Chatterjee, Vineeta Bal, Anna George, Poonam Coshic, Gopal Patidar, Pankaj Hari, Aditi Sinha, Arvind Bagga, Satyajit Rath, Prasenjit Guchhait