Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis

被引：3

作者：

Leiding, Jennifer W. ^{[1
]}

Sriaroon, Panida ^{[1
]}

Ly, Jean M. B. ^{[1
]}

Petrovic, Aleksandra ^{[2
]}

Howard, Deborah L. ^{[1
]}

Shamblott, Michael ^{[3
]}

Kuehn, Hye-Sun ^{[4
]}

Fleisher, Thomas A. ^{[4
]}

机构：

[1] Univ S Florida, Div Allergy Immunol & Rheumatol, Dept Pediat, St Petersburg, FL 33701 USA

[2] Univ S Florida, All Childrens Hosp, Blood & Bone Marrow Transplant Program, St Petersburg, FL 33701 USA

[3] Univ S Florida, Childrens Res Inst, St Petersburg, FL 33701 USA

[4] NCI, Ctr Clin, NIH, Dept Lab Med, Bethesda, MD 20892 USA

来源：

ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY | 2015年 / 115卷 / 01期

关键词：

SEVERE COMBINED IMMUNODEFICIENCY;

D O I：

10.1016/j.anai.2015.04.024

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

[No abstract available]

引用

页码：1 / 3

页数：3

共 8 条

[1] Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency [J].

Al-Herz, Waleed ;

Bousfiha, Aziz ;

Casanova, Jean-Laurent ;

Chatila, Talal ;

Conley, Mary Ellen ;

Cunningham-Rundles, Charlotte ;

Etzioni, Amos ;

Franco, Jose Luis ;

Gaspar, H. Bobby ;

Holland, Steven M. ;

Klein, Christoph ;

Nonoyama, Shigeaki ;

Ochs, Hans D. ;

Oksenhendler, Erik ;

Picard, Capucine ;

Puck, Jennifer M. ;

Sullivan, Kate ;

Tang, Mimi L. K. .

FRONTIERS IN IMMUNOLOGY, 2014, 5

[2] Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency [J].

Felgentreff, Kerstin ;

Perez-Becker, Ruy ;

Speckmann, Carsten ;

Schwarz, Klaus ;

Kalwak, Krzysztof ;

Markelj, Gasper ;

Avcin, Taclej ;

Qasim, Waseem ;

Davies, E. G. ;

Niehues, Tim ;

Ehl, Stephan .

CLINICAL IMMUNOLOGY, 2011, 141 (01) :73-82

[3] Interleukin-7 receptor α (IL-7Rα) deficiency:: cellular and molecular bases.: Analysis of clinical, immunological, and molecular features in 16 novel patients [J].

Giliani, S ;

Mori, L ;

Basile, GD ;

Le Deist, F ;

Rodriguez-Perez, C ;

Forino, C ;

Mazzolari, E ;

Dupuis, S ;

Elhasid, R ;

Kessel, A ;

Galambrun, C ;

Gil, J ;

Fischer, A ;

Etzioni, A ;

Notarangelo, LD .

IMMUNOLOGICAL REVIEWS, 2005, 203 :110-126

[4] Bronchiectasis Secondary to Primary Immunodeficiency in Children: Longitudinal Changes in Structure and Function [J].

Haidopoulou, Katerina ;

Calder, Alistair ;

Jones, Alison ;

Jaffe, Adam ;

Sonnappa, Samatha .

PEDIATRIC PULMONOLOGY, 2009, 44 (07) :669-675

[5] Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States [J].

Kwan, Antonia ;

Abraham, Roshini S. ;

Currier, Robert ;

Brower, Amy ;

Andruszewski, Karen ;

Abbott, Jordan K. ;

Baker, Mei ;

Ballow, Mark ;

Bartoshesky, Louis E. ;

Bonilla, Francisco A. ;

Brokopp, Charles ;

Brooks, Edward ;

Caggana, Michele ;

Celestin, Jocelyn ;

Church, Joseph A. ;

Comeau, Anne Marie ;

Connelly, James A. ;

Cowan, Morton J. ;

Cunningham-Rundles, Charlotte ;

Dasu, Trivikram ;

Dave, Nina ;

De La Morena, Maria T. ;

Duffner, Ulrich ;

Fong, Chin-To ;

Forbes, Lisa ;

Freedenberg, Debra ;

Gelfand, Erwin W. ;

Hale, Jaime E. ;

Hanson, I. Celine ;

Hay, Beverly N. ;

Hu, Diana ;

Infante, Anthony ;

Johnson, Daisy ;

Kapoor, Neena ;

Kay, Denise M. ;

Kohn, Donald B. ;

Lee, Rachel ;

Lehman, Heather ;

Lin, Zhili ;

Lorey, Fred ;

Abdel-Mageed, Aly ;

Manning, Adrienne ;

McGhee, Sean ;

Moore, Theodore B. ;

Naides, Stanley J. ;

Notarangelo, Luigi D. ;

Orange, Jordan S. ;

Pai, Sung-Yun ;

Porteus, Matthew ;

Rodriguez, Ray .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 312 (07) :729-738

[6] Mutations in the gene for the IL-7 receptor result in T-B+N K+ severe combined immunodeficiency disease [J].

Puel, A ;

Leonard, WJ .

CURRENT OPINION IN IMMUNOLOGY, 2000, 12 (04) :468-473

[7] Defective IL7R expression in T-B+NK+ severe combined immunodeficiency [J].

Puel, A ;

Ziegler, SF ;

Buckley, RH ;

Leonard, WJ .

NATURE GENETICS, 1998, 20 (04) :394-397

[8] Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience [J].

Shearer, William T. ;

Dunn, Elizabeth ;

Notarangelo, Luigi D. ;

Dvorak, Christopher C. ;

Puck, Jennifer M. ;

Logan, Brent R. ;

Griffith, Linda M. ;

Kohn, Donald B. ;

O'Reilly, Richard J. ;

Fleisher, Thomas A. ;

Pai, Sung-Yun ;

Martinez, Caridad A. ;

Buckley, Rebecca H. ;

Cowan, Morton J. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (04) :1092-1098

← 1 →