Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment

被引:25
作者
Ochs, Hans D. [1 ]
Hagin, David [1 ]
机构
[1] Univ Washington, Seattle Childrens Res Inst, Seattle, WA 98101 USA
基金
美国国家卫生研究院;
关键词
MENDELIAN SUSCEPTIBILITY; 11; CARD11; MUTATIONS; DEFICIENCY; DOMINANT; DISEASE; FAMILY; AGAMMAGLOBULINEMIA; PATHOGENESIS; GUIDELINES;
D O I
10.1016/j.anai.2014.04.007
中图分类号
R392 [医学免疫学];
学科分类号
100108 [医学免疫学];
摘要
[No abstract available]
引用
收藏
页码:489 / 495
页数:7
相关论文
共 47 条
[1]
Primary immunodefciency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Priary Immunodeficiency [J].
Al-Herz, Waleed ;
Bousfiha, Aziz ;
Casanova, Jean-Laurent ;
Chapel, Helen ;
Conley, Mary Ellen ;
Cunningham-Rundles, Charlotte ;
Etzioni, Amos ;
Fischer, Alain ;
Luis Franco, Jose ;
Geha, Raif S. ;
Hammarstrom, Lennart ;
Nonoyama, Shigeaki ;
Notarangelo, Luigi Daniele ;
Ochs, Hans Dieter ;
Puck, Jennifer M. ;
Roifman, Chaim M. ;
Seger, Reinhard ;
Tang, Mimi L. K. .
FRONTIERS IN IMMUNOLOGY, 2011, 2
[2]
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases [J].
Al-Muhsen, Saleh ;
Casanova, Jean-Laurent .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 122 (06) :1043-1051
[3]
Clinical, Immunological and Molecular Characterization of DOCK8 and DOCK8-like Deficient Patients: Single Center Experience of Twenty Five Patients [J].
Alsum, Zobaida ;
Hawwari, Abbas ;
Alsmadi, Osama ;
Al-Hissi, Safa ;
Borrero, Esteban ;
Abu-staiteh, Asma' ;
Khalak, Hanif G. ;
Wakil, Salma ;
Eldali, Abdelmoneim M. ;
Arnaout, Rand ;
Al-ghonaium, Abdulaziz ;
Al-Muhsen, Saleh ;
Al-Dhekri, Hasan ;
Al-Saud, Bandar ;
Al-Mousa, Hamoud .
JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (01) :55-67
[4]
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage [J].
Angulo, Ivan ;
Vadas, Oscar ;
Garcon, Fabien ;
Banham-Hall, Edward ;
Plagnol, Vincent ;
Leahy, Timothy R. ;
Baxendale, Helen ;
Coulter, Tanya ;
Curtis, James ;
Wu, Changxin ;
Blake-Palmer, Katherine ;
Perisic, Olga ;
Smyth, Deborah ;
Maes, Mailis ;
Fiddler, Christine ;
Juss, Jatinder ;
Cilliers, Deirdre ;
Markelj, Gasper ;
Chandra, Anita ;
Farmer, George ;
Kielkowska, Anna ;
Clark, Jonathan ;
Kracker, Sven ;
Debre, Marianne ;
Picard, Capucine ;
Pellier, Isabelle ;
Jabado, Nada ;
Morris, James A. ;
Barcenas-Morales, Gabriela ;
Fischer, Alain ;
Stephens, Len ;
Hawkins, Phillip ;
Barrett, Jeffrey C. ;
Abinun, Mario ;
Clatworthy, Menna ;
Durandy, Anne ;
Doffinger, Rainer ;
Chilvers, Edwin R. ;
Cant, Andrew J. ;
Kumararatne, Dinakantha ;
Okkenhaug, Klaus ;
Williams, Roger L. ;
Condliffe, Alison ;
Nejentsev, Sergey .
SCIENCE, 2013, 342 (6160) :866-871
[5]
A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside [J].
Aziz Bousfiha, Ahmed ;
Jeddane, Leila ;
Ailal, Fatima ;
Al Herz, Waleed ;
Conley, Mary Ellen ;
Cunningham-Rundles, Charlotte ;
Etzioni, Amos ;
Fischer, Alain ;
Luis Franco, Jose ;
Geha, Raif S. ;
Hammarstrom, Lennart ;
Nonoyama, Shigeaki ;
Ochs, Hans D. ;
Roifman, Chaim M. ;
Seger, Reinhard ;
Tang, Mimi L. K. ;
Puck, Jennifer M. ;
Chapel, Helen ;
Notarangelo, Luigi D. ;
Casanova, Jean-Laurent .
JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (06) :1078-1087
[6]
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR- B cells [J].
Boisson, Bertrand ;
Wang, Yong-Dong ;
Bosompem, Amma ;
Ma, Cindy S. ;
Lim, Annick ;
Kochetkov, Tatiana ;
Tangye, Stuart G. ;
Casanova, Jean-Laurent ;
Conley, Mary Ellen .
JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (11) :4781-4785
[7]
Bonilla FA, 2014, PRIMARY IMMUNODEFICI, P780
[8]
BRUTON OC, 1952, PEDIATRICS, V9, P722
[9]
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases [J].
Bustamante, Jacinta ;
Picard, Capucine ;
Boisson-Dupuis, Stephanie ;
Abel, Laurent ;
Casanova, Jean-Laurent .
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY II, 2011, 1246 :92-101
[10]
Human genetics of infectious diseases: a unified theory [J].
Casanova, Jean-Laurent ;
Abel, Laurent .
EMBO JOURNAL, 2007, 26 (04) :915-922