Ausgabe 5/2015
Inhalt (12 Artikel)
Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome
Suellen Moli Yin, Ronald M. Ferdman, Larry Wang, M. Louise Markert, Jonathan S. Tam
Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency
Magdalena Dziadzio, Sandra Ammann, Claire Canning, Fiona Boyle, Amel Hassan, Cathy Cale, Mamoun Elawad, Berthe Katrine Fiil, Mads Gyrd-Hansen, Ulrich Salzer, Carsten Speckmann, Bodo Grimbacher
Late-Onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)
Jeffrey I. Cohen, Julie E. Niemela, Jennifer L. Stoddard, Stefania Pittaluga, Helen Heslop, Elaine S. Jaffe, Kennichi Dowdell
IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype
Amy P. Hsu, Stefania Pittaluga, Bianca Martinez, Amy P. Rump, Mark Raffeld, Gulbu Uzel, Jennifer M. Puck, Alexandra F. Freeman, Steven M. Holland
Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases
Mitsutaka Shiota, Xi Yang, Mei Kubokawa, Tatsuya Morishima, Kuniaki Tanaka, Masamitsu Mikami, Kenichi Yoshida, Masako Kikuchi, Kazushi Izawa, Ryuta Nishikomori, Yusuke Okuno, Xian Wang, Hirotoshi Sakaguchi, Hideki Muramatsu, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Masatoshi Takagi, Daisuke Hata, Hirokazu Kanegane
Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India
Varun K. Sharma, Gautham Pai, Caroline Deswarte, Rakesh Lodha, Sarman Singh, Liew Woei Kang, Chong Chia Yin, Jean-Laurent Casanova, Jacinta Bustamante, Sushil K. Kabra
Successful Haploidentical Donor Hematopoietic Stem Cell Transplant and Restoration of STAT3 Function in an Adolescent with Autosomal Dominant Hyper-IgE Syndrome
N. C. Patel, J. L. Gallagher, T. R. Torgerson, A. L. Gilman
A Homozygous CARD9 Mutation in a Brazilian Patient with Deep Dermatophytosis
Anete S. Grumach, Flavio de Queiroz-Telles, Mélanie Migaud, Fanny Lanternier, Nelson Rosario Filho, Sandra M. U. Palma, Rosemeire Navickas Constantino-Silva, Jean Laurent Casanova, Anne Puel
Lung Magnetic Resonance Imaging with Diffusion Weighted Imaging Provides Regional Structural as well as Functional Information Without Radiation Exposure in Primary Antibody Deficiencies
Cinzia Milito, Federica Pulvirenti, Goffredo Serra, Michele Valente, Anna Maria Pesce, Guido Granata, Carlo Catalano, Francesco Fraioli, Isabella Quinti
A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis
Camilo Andrés Pérez Romero, Isaura Pilar Sánchez, Sebastian Gutierrez-Hincapié, Jesús A. Álvarez-Álvarez, Jaime Andres Pereañez, Rodrigo Ochoa, Carlos Enrique Muskus-López, Ruth G. Eraso, Carolina Echeverry, Catalina Arango, José Luis Franco Restrepo, Claudia Milena Trujillo-Vargas
Mosaicism of an ELANE Mutation in an Asymptomatic Mother in a Familial Case of Cyclic Neutropenia
Osamu Hirata, Satoshi Okada, Miyuki Tsumura, Shuhei Karakawa, Itaru Matsumura, Yujiro Kimura, Toshiro Maihara, Shin’ichiro Yasunaga, Yoshihiro Takihara, Osamu Ohara, Masao Kobayashi