Novel CECR1 gene mutation causing ADA-2 deficiency

被引:0
|
作者
Chong-Neto, Herberto J. [1 ]
Silva Segundo, Gesmar Rodrigues [2 ]
Bandeira, Marcia [3 ]
Riedi, Carlos Antonio [1 ]
Hershfield, Michael [4 ]
Torgerson, Troy R. [5 ]
Rosario, Nelson [6 ]
机构
[1] Univ Fed Parana, Pediat Allergy & Immunol Div, Curitiba, Parana, Brazil
[2] Univ Fed Uberlandia, Pediat Allergy & Immunol Div, Uberlandia, MG, Brazil
[3] Univ Fed Parana, Dept Pediat, Curitiba, Parana, Brazil
[4] Duke Univ, Med Ctr, Dept Rheumatol & Immunol, Med & Biochem, Durham, NC 27706 USA
[5] Univ Washington, Dept Pediat, Sch Med, Ctr Immun & Immunotherapies,Seattle Childrens Res, Seattle, WA 98195 USA
[6] Univ Fed Parana, Pediat Allergy & Immunol Div, Pediat, Curitiba, Parana, Brazil
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
120
引用
收藏
页码:387 / 387
页数:1
相关论文
共 50 条
  • [1] A FAMILY CASE OF ADA 2 DEFICIENCY WITH CECR1 MUTATION
    Schnider, C.
    Theodoropoulou, K.
    Candotti, F.
    Angelini, F.
    Perreau, M.
    Hershfield, M.
    Hofer, M.
    [J]. SWISS MEDICAL WEEKLY, 2018, 148 : 11S - 12S
  • [2] Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
    Cipe, Funda Erol
    Aydogmus, Cigdem
    Serwas, Nina K.
    Keskindemirci, Gonca
    Boztug, Kaan
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 273 - 277
  • [3] Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
    Funda Erol Cipe
    Cigdem Aydogmus
    Nina K. Serwas
    Gonca Keskindemirci
    Kaan Boztuğ
    [J]. Journal of Clinical Immunology, 2018, 38 : 273 - 277
  • [4] Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency
    Herberto Jose Chong-Neto
    Gesmar Rodrigues Silva Segundo
    Márcia Bandeira
    Débora Carla Chong-Silva
    Cristine Secco Rosário
    Carlos A. Riedi
    Michael S. Hershfield
    Hans Ochs
    Troy Torgerson
    Nelson Augusto Rosário
    [J]. Journal of Clinical Immunology, 2019, 39 : 842 - 845
  • [5] Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency
    Chong-Neto, Herberto Jose
    Segundo, Gesmar Rodrigues Silva
    Bandeira, Marcia
    Chong-Silva, Debora Carla
    Rosario, Cristine Secco
    Riedi, Carlos A.
    Hershfield, Michael S.
    Ochs, Hans
    Torgerson, Troy
    Rosario, Nelson Augusto
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 (08) : 842 - 845
  • [6] CECR1/ADA2 MUTATION IN A BRAZILIAN FAMILY
    Paola, Kahwage
    Rogrigues Gomes, Francisco Hugo
    Benevides, Luana Coelho
    Leite, Milena Foizer
    Medeiros, Priscila
    Santos, Antonio Carlos
    de Carvalho, Luciana Martins
    Ferriani, Virginia
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2019, 78 : 2009 - 2009
  • [7] NOVEL CECR1 MUTATION MIMICKING GATA2 DEFICIENCY
    Hsu, Amy P.
    West, Robert R.
    Calvo, Katherine
    Kelly, Susan J.
    Ganson, Nancy J.
    Parta, Mark
    Cuellar-Rodriguez, Jennifer
    Hershfield, Michael
    Hickstein, Dennis D.
    Holland, Steven M.
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 297 - 297
  • [8] Identification of three ADA2 deficiency families with novel CECR1 mutations
    G Sarrabay
    A Insalaco
    F Uettwiller
    N Tieulié
    P Quartier-dit-maire
    J Melki
    I Touitou
    [J]. Pediatric Rheumatology, 13 (Suppl 1)
  • [9] A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency
    Nicoara, Delia
    Nita, Cristina
    Stanila, Ana
    Martiniuc, Alexandru
    Popa, Laura
    Petrescu, Eliana
    Bataneant, Mihaela
    Ciofu, Ruxandra
    Gurita, Adriana
    Tabacaru, Radu
    Ionescu, Ruxandra
    Groseanu, Laura
    [J]. IMMUNITY INFLAMMATION AND DISEASE, 2023, 11 (08)
  • [10] Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome
    Sharma, Aman
    Naidu, G. S. R. S. N. K.
    Chattopadhyay, Arghya
    Acharya, Nupoor
    Jha, Saket
    Jain, Sanjay
    [J]. RHEUMATOLOGY, 2019, 58 (01) : 181 - 182