First reported case of Omenn syndrome in a patient with reticular dysgenesis

被引:21
|
作者
Henderson, Lauren A. [1 ]
Frugoni, Francesco [1 ]
Hopkins, Gregory [2 ]
Al-Herz, Waleed [4 ]
Weinacht, Katja [2 ,5 ]
Comeau, Anne Marie [6 ]
Bonilla, Francisco A. [1 ]
Notarangelo, Luigi D. [1 ,3 ]
Pai, Sung-Yun [2 ,5 ]
机构
[1] Childrens Hosp Boston, Div Immunol, Boston, MA USA
[2] Childrens Hosp Boston, Div Hematol & Oncol, Boston, MA USA
[3] Childrens Hosp Boston, Manton Ctr Orphan Dis Res, Boston, MA USA
[4] Kuwait Univ, Dept Pediat, Fac Med, Allergy & Clin Immunol Unit, Kuwait, Kuwait
[5] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA
[6] Univ Massachusetts, Sch Med, New England Newborn Screening Program, Worcester, MA USA
关键词
SEVERE COMBINED IMMUNODEFICIENCY; ADENYLATE KINASE 2; SENSORINEURAL DEAFNESS; ALEUKOCYTOSIS;
D O I
10.1016/j.jaci.2012.07.045
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:1227 / 1230
页数:6
相关论文
共 50 条
  • [41] Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case
    Guvenc, Osman
    Uygun, Saime Sundus
    Cimen, Derya
    Aslan, Eyup
    Annagur, Ali
    [J]. TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY, 2016, 44 (06): : 503 - 506
  • [42] Ovarian 'Tumor' of the adrenogenital syndrome - The first reported case
    Al-Ahmadie, HA
    Stanek, J
    Liu, J
    Mangu, PN
    Niemann, T
    Young, RH
    [J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2001, 25 (11) : 1443 - 1450
  • [43] RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome
    Elena Crestani
    Sharon Choo
    Francesco Frugoni
    Yu Nee Lee
    Stephanie Richards
    Joanne Smart
    Luigi D Notarangelo
    [J]. Journal of Clinical Immunology, 2014, 34 : 551 - 554
  • [44] ASSOCIATIONS BETWEEN OMENN SYNDROME AND CYSTINURIA: A CASE REPORT
    Patiroglu, Turkan
    Cansever, Murat
    Karakukcu, Musa
    Demirci, Deniz
    [J]. HLA, 2017, 89 (06) : 473 - 473
  • [45] A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome
    Toru Uchiyama
    Saori Kawakami
    Hiroshi Masuda
    Kazue Yoshida
    Hironori Niizeki
    Emi Mochizuki
    Kaori Edasawa
    Akira Ishiguro
    Masafumi Onodera
    [J]. Journal of Clinical Immunology, 2021, 41 : 233 - 237
  • [46] A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome
    Uchiyama, Toru
    Kawakami, Saori
    Masuda, Hiroshi
    Yoshida, Kazue
    Niizeki, Hironori
    Mochizuki, Emi
    Edasawa, Kaori
    Ishiguro, Akira
    Onodera, Masafumi
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (01) : 233 - 237
  • [47] Successful bone marrow transplantation in a patient with Omenn syndrome, a rare variant of severe combined immunodeficiency syndrome: A case report
    Khan, Ubaid
    Umer, Muhammad
    Muhammad, Aiman
    Iltaf, Arej
    Nashwan, Abdulqadir J.
    [J]. CLINICAL CASE REPORTS, 2024, 12 (08):
  • [48] MESENCHYMAL DYSGENESIS IN A PATIENT WITH DOWNS-SYNDROME
    ORELLANA, J
    PALUMBO, J
    RITCH, R
    [J]. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 1982, 19 (03) : 144 - 145
  • [49] First Reported Case of a Patient With Anti-IgLON5 Antibody-positive Corticobasal Syndrome
    Fuseya, Kimiharu
    Kimura, Akio
    Yoshikura, Nobuaki
    Takekoshi, Akira
    Hayashi, Yuichi
    Shimohata, Takayoshi
    [J]. NEUROLOGY, 2021, 96 (15)
  • [50] Nortriptylin overdose in a patient treated with terbinafine (first reported case)
    Schmutz, JL
    Barbaud, A
    Tréchot, P
    [J]. ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 1999, 126 (8-9): : 647 - 647