Omenn syndrome is associated with mutations in DNA ligase IV

被引：80

作者：

Grunebaum, Eyal ^{[1
]}

Bates, Andrea

Roifman, Chaim M.

机构：

[1] Hosp Sick Children, Div Immunol & Allergy, Toronto, ON M5G 1X8, Canada

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2008年 / 122卷 / 06期

关键词：

D O I：

10.1016/j.jaci.2008.08.031

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：1219 / 1220

页数：2

共 9 条

[1] Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV [J].

Buck, D ;

Moshous, D ;

de Chasseval, R ;

Ma, YM ;

le Deist, F ;

Cavazzana-Calvo, M ;

Fischer, A ;

Casanova, JL ;

Lieber, MR ;

de Villartay, JP .

EUROPEAN JOURNAL OF IMMUNOLOGY, 2006, 36 (01) :224-235

[2] A severe form of human combined immunodeficiency due to mutations in DNA ligase IV [J].

Enders, Anselm ;

Fisch, Paul ;

Schwarz, Klaus ;

Duffner, Ulrich ;

Pannicke, Ulrich ;

Nikolopoulos, Elisabeth ;

Peters, Anke ;

Orlowska-Volk, Marzenna ;

Schindler, Detlev ;

Friedrich, Wilhelm ;

Selle, Barbara ;

Niemeyer, Charlotte ;

Ehl, Stephan .

JOURNAL OF IMMUNOLOGY, 2006, 176 (08) :5060-5068

[3] Primary immunodeficiency syndromes associated with defective DNA double-strand break repair [J].

Gennery, A. R. .

BRITISH MEDICAL BULLETIN, 2006, 77-78 :71-85

[4] Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure [J].

Gruhn, Bernd ;

Seidel, Joerg ;

Zintl, Felix ;

Varon, Raymonda ;

Toennies, Holger ;

Neitzel, Heidemarie ;

Bechtold, Astrid ;

Hoehn, Holger ;

Schindler, Detlev .

ORPHANET JOURNAL OF RARE DISEASES, 2007, 2 (1)

[5] Matched unrelated bone marrow transplant for T plus combined immunodeficiency [J].

Roifman, C. M. ;

Somech, R. ;

Grunebaum, E. .

BONE MARROW TRANSPLANTATION, 2008, 41 (11) :947-952

[6] Adenosine deaminase deficiency can present with features of Omenn syndrome [J].

Roifman, Chaim M. ;

Zhang, Junyan ;

Atkinson, Adelle ;

Grunebaunt, Eyal ;

Mandel, Karen .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 121 (04) :1056-1058

[7] Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome [J].

Toita, Nariaki ;

Hatano, Norikazu ;

Ono, Satoru ;

Yamada, Masafumi ;

Kobalashi, Ryoji ;

Kobayashi, Ichiro ;

Kawamura, Nobuaki ;

Okano, Motohiko ;

Satoh, Akira ;

Nakagawa, Atsuko ;

Ohshima, Koichi ;

Shindoh, Masanobu ;

Takami, Tsuyoshi ;

Kobayashi, Kunihiko ;

Ariga, Tadashi .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (07) :742-745

[8] A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation [J].

van der Burg, M ;

van Veelen, LR ;

Verkaik, NS ;

Wiegant, WW ;

Hartwig, NG ;

Barendregt, BH ;

Brugmans, L ;

Raams, A ;

Jaspers, NGJ ;

Zdzienicka, MZ ;

van Dongen, JJM ;

van Gent, DC .

JOURNAL OF CLINICAL INVESTIGATION, 2006, 116 (01) :137-145

[9] Partial V(D)J recombination activity leads to Omenn syndrome [J].

Villa, A ;

Santagata, S ;

Bozzi, F ;

Giliani, S ;

Frattini, A ;

Imberti, L ;

Gatta, LB ;

Ochs, HD ;

Schwarz, K ;

Notarangelo, LD ;

Vezzoni, P ;

Spanopoulou, E .

CELL, 1998, 93 (05) :885-896

← 1 →