Omenn syndrome in an infant with IL7RA gene mutation

被引：74

作者：

Giliani, S ^{[1
]}

Bonfim, C

Basile, GD

Lanzi, G

Brousse, N

Koliski, A

Malvezzi, M

Fischer, A

Notarangelo, LD

Le Deist, F

机构：

[1] Univ Brescia, Dept Pediat, I-25123 Brescia, Italy

[2] Univ Brescia, Angelo Nocivelli Inst Mol Med, I-25123 Brescia, Italy

[3] Univ Fed Parana, Hosp Clin, Dept Pediat, Intens Care Unit, BR-80060000 Curitiba, Parana, Brazil

[4] Univ Fed Parana, Hosp Clin, Bone Marrow Transplantat Unit, BR-80060000 Curitiba, Parana, Brazil

[5] Univ Fed Parana, Hosp Clin, Dept Immunogenet, BR-80060000 Curitiba, Parana, Brazil

[6] INSERM, Unite Dev Normal & Pathol Syst Immunitaire, U429, F-75654 Paris 13, France

[7] Hop Necker Enfants Malad, Dept Pathol, Paris, France

[8] Hosp St Justine, Dept Microbiol & Immunol, Montreal, PQ, Canada

来源：

JOURNAL OF PEDIATRICS | 2006年 / 148卷 / 02期

关键词：

D O I：

10.1016/j.jpeds.2005.10.004

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

引用

页码：272 / 274

页数：3

共 10 条

[1] T-cell receptor analysis in Omenn's syndrome: Evidence for defects in gene rearrangement and assembly [J].

Brooks, EG ;

Filipovich, AH ;

Padgett, JW ;

Mamlock, R ;

Goldblum, RM .

BLOOD, 1999, 93 (01) :242-250

[2] AIRE deficiency in thymus of 2 patients with Omenn syndrome [J].

Cavadini, P ;

Vermi, W ;

Facchetti, F ;

Fontana, S ;

Nagafuchi, S ;

Mazzolari, E ;

Sediva, A ;

Marrella, V ;

Villa, A ;

Fischer, A ;

Notarangelo, LD ;

Badolato, R .

JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (03) :728-732

[3] Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome [J].

Corneo, B ;

Moshous, D ;

Güngör, T ;

Wulffraat, N ;

Philippet, P ;

Le Deist, F ;

Fischer, A ;

de Villartay, JP .

BLOOD, 2001, 97 (09) :2772-2776

[4] Omenn syndrome due to ARTEMIS mutations [J].

Ege, M ;

Ma, YM ;

Manfras, B ;

Kalwak, K ;

Lu, HH ;

Lieber, MR ;

Schwarz, K ;

Pannicke, U .

BLOOD, 2005, 105 (11) :4179-4186

[5] 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

[6] Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis [J].

Pirovano, S ;

Mazzolari, E ;

Pasic, S ;

Albertini, A ;

Notarangelo, LD ;

Imberti, L .

IMMUNOLOGY LETTERS, 2003, 86 (01) :93-97

[7] Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome [J].

Rieux-Laucat, F ;

Bahadoran, P ;

Brousse, N ;

Selz, F ;

Fischer, A ;

Le Deist, F ;

De Villartay, JP .

JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (02) :312-321

[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] V(D)J recombination defects in lymphocytes due to RAG mutations:: severe immunodeficiency with a spectrum of clinical presentations [J].

Villa, A ;

Sobacchi, C ;

Notarangelo, LD ;

Bozzi, F ;

Abinun, M ;

Abrahamsen, TG ;

Arkwright, PD ;

Baniyash, M ;

Brooks, EG ;

Conley, ME ;

Cortes, P ;

Duse, M ;

Fasth, A ;

Filipovich, AM ;

Infante, AJ ;

Jones, A ;

Mazzolari, E ;

Muller, SM ;

Pasic, S ;

Rechavi, G ;

Sacco, MG ;

Santagata, S ;

Schroeder, ML ;

Seger, R ;

Strina, D ;

Ugazio, A ;

Väliaho, J ;

Vihinen, M ;

Vogler, LB ;

Ochs, H ;

Vezzoni, P ;

Friedrich, W ;

Schwarz, K .

BLOOD, 2001, 97 (01) :81-88

[10] Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders [J].

Wada, T ;

Takei, K ;

Kudo, M ;

Shimura, S ;

Kasahara, Y ;

Koizumi, S ;

Kawa-Ha, K ;

Ishida, Y ;

Imashuku, S ;

Seki, H ;

Yachie, A .

CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2000, 119 (01) :148-155

← 1 →