Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies

被引：16

作者：

Goda, Vera ^{[1
]}

Malik, Aniko ^{[2
]}

Kalmar, Tibor ^{[3
]}

Maroti, Zoltan ^{[3
]}

Patel, Bhumika ^{[4
]}

Ujhazi, Boglarka ^{[4
]}

Csomos, Krisztian ^{[4
]}

Hale, Jaime E. ^{[5
]}

Chen, Karin ^{[6
]}

Bleesing, Jacob ^{[7
]}

Palma, Paolo ^{[8
]}

Cancrini, Caterina ^{[8
]}

Comeau, Anne M. ^{[5
]}

Krivan, Gergely ^{[1
]}

Walter, Jolan E. ^{[4
,9
]}

机构：

[1] United St Istvan & St Laszlo Hosp, Dept Pediat Hematol & Stem Cell Transplant, Budapest, Hungary

[2] Semmelweis Univ, Dept Pediat, Budapest, Hungary

[3] Univ Szeged, Dept Pediat, Albert Szent Gyorgyi Med Ctr, Genet Diagnost Lab,Fac Med, Szeged, Hungary

[4] Univ S Florida, Dept Pediat, Div Pediat Allergy & Immunol, Tampa, FL USA

[5] Univ Massachusetts, Sch Med, Dept Pediat, New England Newborn Screening Program, Jamaica Plain, MA USA

[6] Univ Utah, Sch Med, Dept Pediat, Div Allergy & Immunol, Salt Lake City, UT USA

[7] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immunodeficiency, Cincinnati, OH 45229 USA

[8] Bambino Gesu Childrens Hosp IRCCS, Univ Dept Pediat, Rome, Italy

[9] Massachusetts Gen Hosp Children, Div Pediat Allergy Immunol, Boston, MA USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE | 2018年 / 6卷 / 05期

基金：

美国国家卫生研究院;

关键词：

RECOMBINATION ACTIVITY; MUTATIONS;

D O I：

10.1016/j.jaip.2018.01.015

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：1769 / +

页数：5

共 9 条

[1] Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations [J].

Chen, Karin ;

Wu, Wilfred ;

Mathew, Divij ;

Zhang, Yuhua ;

Browne, Sarah K. ;

Rosen, Lindsey B. ;

McManus, Meghann P. ;

Pulsipher, Michael A. ;

Yandell, Mark ;

Bohnsack, John F. ;

Jorde, Lynn B. ;

Notarangelo, Luigi D. ;

Walter, Jolan E. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (03) :880-+

[2] Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity [J].

Henderson, Lauren A. ;

Frugoni, Francesco ;

Hopkins, Gregory ;

de Boer, Helen ;

Pai, Sung-Yun ;

Lee, Yu Nee ;

Walter, Jolan E. ;

Hazen, Melissa M. ;

Notarangelo, Luigi D. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 132 (04) :969-971

[3] Characterization of T and B cell repertoire diversity in patients with RAG deficiency [J].

Lee, Yu Nee ;

Frugoni, Francesco ;

Dobbs, Kerry ;

Tirosh, Irit ;

Du, Likun ;

Ververs, Francesca A. ;

Ru, Heng ;

de Bruin, Lisa Ott ;

Adeli, Mehdi ;

Bleesing, Jacob H. ;

Buchbinder, David ;

Butte, Manish J. ;

Cancrini, Caterina ;

Chen, Karin ;

Choo, Sharon ;

Elfeky, Reem A. ;

Finocchi, Andrea ;

Fuleihan, Ramsay L. ;

Gennery, Andrew R. ;

El-Ghoneimy, Dalia H. ;

Henderson, Lauren A. ;

Al-Herz, Waleed ;

Hossny, Elham ;

Nelson, Robert P. ;

Pai, Sung-Yun ;

Patel, Niraj C. ;

Reda, Shereen M. ;

Soler-Palacin, Pere ;

Somech, Raz ;

Palma, Paolo ;

Wu, Hao ;

Giliani, Silvia ;

Walter, Jolan E. ;

Notarangelo, Luigi D. .

SCIENCE IMMUNOLOGY, 2016, 1 (06)

[4] A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency [J].

Lee, Yu Nee ;

Frugoni, Francesco ;

Dobbs, Kerry ;

Walter, Jolan E. ;

Giliani, Silvia ;

Gennery, Andrew R. ;

Al-Herz, Waleed ;

Haddad, Elie ;

LeDeist, Francoise ;

Bleesing, Jack H. ;

Henderson, Lauren A. ;

Pai, Sung-Yun ;

Nelson, Robert P. ;

El-Ghoneimy, Dalia H. ;

El-Feky, Reem A. ;

Reda, Shereen M. ;

Hossny, Elham ;

Soler-Palacin, Pere ;

Fuleihan, Ramsay L. ;

Patel, Niraj C. ;

Massaad, Michel J. ;

Geha, Raif S. ;

Puck, Jennifer M. ;

Palma, Paolo ;

Cancrini, Caterina ;

Chen, Karin ;

Vihinen, Mauno ;

Alt, Frederick W. ;

Notarangelo, Luigi D. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (04) :1099-+

[5] Human RAG mutations: biochemistry and clinical implications [J].

Notarangelo, Luigi D. ;

Kim, Min-Sung ;

Walter, Jolan E. ;

Lee, Yu Nee .

NATURE REVIEWS IMMUNOLOGY, 2016, 16 (04) :234-246

[6] Severe autoimmune cytopenias in treatment-naive hepatitis C virus infection -: Clinical description of 35 cases [J].

Ramos-Casals, M ;

García-Carrasco, M ;

López-Medrano, F ;

Trejo, O ;

Forns, X ;

López-Guillermo, A ;

Muñoz, C ;

Ingelmo, M ;

Font, J .

MEDICINE, 2003, 82 (02) :87-96

[7] Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment [J].

Seidel, Markus G. .

BLOOD, 2014, 124 (15) :2337-2344

[8] 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

[9] Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency [J].

Walter, Jolan E. ;

Rosen, Lindsey B. ;

Csomos, Krisztian ;

Rosenberg, Jacob M. ;

Mathew, Divij ;

Keszei, Marton ;

Ujhazi, Boglarka ;

Chen, Karin ;

Lee, Yu Nee ;

Tirosh, Irit ;

Dobbs, Kerry ;

Al-Herz, Waleed ;

Cowan, Morton J. ;

Puck, Jennifer ;

Bleesing, Jack J. ;

Grimley, Michael S. ;

Malech, Harry ;

De Ravin, Suk See ;

Gennery, Andrew R. ;

Abraham, Roshini S. ;

Joshi, Avni Y. ;

Boyce, Thomas G. ;

Butte, Manish J. ;

Nadeau, Kari C. ;

Balboni, Imelda ;

Sullivan, Kathleen E. ;

Akhter, Javeed ;

Adeli, Mehdi ;

El-Feky, Reem A. ;

El-Ghoneimy, Dalia H. ;

Dbaibo, Ghassan ;

Wakim, Rima ;

Azzari, Chiara ;

Palma, Paolo ;

Cancrini, Caterina ;

Capuder, Kelly ;

Condino-Neto, Antonio ;

Costa-Carvalho, Beatriz T. ;

Oliveira, Joao Bosco ;

Roifman, Chaim ;

Buchbinder, David ;

Kumanovics, Attila ;

Luis Franco, Jose ;

Niehues, Tim ;

Schuetz, Catharina ;

Kuijpers, Taco ;

Yee, Christina ;

Chou, Janet ;

Masaad, Michel J. ;

Geha, Raif .

JOURNAL OF CLINICAL INVESTIGATION, 2015, 125 (11) :4135-4148

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