✦ LIBER ✦

Familial hemophagocytic lymphohistiocytosis with theMUNC13-4mutation: a case report

✍ Scribed by Hiroshi Mizumoto; Daisuke Hata; Ken Yamamoto; Ryutaro Shirakawa; Akira Kumakura; Mitsutaka Shiota; Atsushi Yokoyama; Hiroshi Matsubara; Michihiro Kobayashi; Ryuta Nishikomori; Soichi Adachi; Tatsutoshi Nakahata; Toru Kita; Hisanori Horiuchi; Masaki Yasukawa; Eiichi Ishii

Publisher: Springer
Year: 2006
Tongue: English
Weight: 135 KB
Volume: 165
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-005-0065-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Late-onset cases of familial hemophagocy

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

✍ Ikuyo Ueda; Yumi Kurokawa; Kenichi Koike; Shuichi Ito; Akifumi Sakata; Tsutomu M 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 1 views

## Abstract Since the discovery of __perforin__ gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have been identified in a report of Feldmann et al. as the beginning. This study was conducted to determine the impact of characteristi

Immunologic dysregulation in a patient w

Immunologic dysregulation in a patient with familial hemophagocytic lymphohistiocytosis

✍ Batia Stark; Ian J. Cohen; Marit Pecht; Tehila Umiel; Ron N. Apte; Eva Friedman; 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 912 KB

Microbiological Findings and Treatment o

Microbiological Findings and Treatment of EBV-Associated Hemophagocytic Lymphohistiocytosis: A Case Report

✍ Maciej Przybylski; Tomasz Dzieciątkowski; Dorota Zduńczyk; Wiesław Wiktor Jędrze 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 301 KB

Mutations of the hemophagocytic lymphohi

Mutations of the hemophagocytic lymphohistiocytosis–associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

✍ Melissa M. Hazen; Amy L. Woodward; Inga Hofmann; Barbara A. Degar; Alexei Grom; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 88 KB 👁 2 views

An inframe perforin gene deletion in fam

An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression

✍ Shanmugakonar Muralitharan; Zakia Al Lamki; David Dennison; Brian Sidney Christi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB 👁 2 views

Diagnostic challenges in a child with fa

Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease

✍ James D. Weisfeld-Adams; Yitzchak Frank; Vinod Havalad; Joanne M. Hojsak; Robert 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 363 KB