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Your search keyword '"Gertz, E. m."' showing total 11 results
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11 results on '"Gertz, E. m."'

1. Abstract 2658: Oncogenicity of adeno-associated virus (AAV) integration into the genomes of liver cancer patients depends on the overlap between the AAV integration site and the AAV X gene

Author

Schaffer, Alejandro A., primary, Dominguez, Dana, additional, Gertz, E. M., additional, Chapman, Lesley M., additional, Budhu, Anuradha, additional, Forgues, Marshonna, additional, Chaisaingmongkol, Jittiporn, additional, Rabibhadana, Siritida, additional, Pupacdi, Benjarath, additional, Wu, Xiaolin, additional, Harris, Curtis C., additional, Ruchirawat, Mathuros, additional, Ruppin, Eytan, additional, and Wang, Xin W., additional

Published
2021
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2. Early-onset inflammatory bowel disease caused by mutant IL10 receptor

Author

Segal A W, Shah N, Koletzko S, Salzer U, Baumann U, Woellner C, Nustede R, Lacher M, Kreipe H, Sauer M, Sykora K W, Pfeifer D, Hätscher N, Murugan D, Allroth A, Diestelhorst J, Perro M, Noyan F, Schäffer A A, Gertz E M, Boztug K, Kotlarz D, Glocker E O, Sauerbrey A, Buderus S, Snapper S B, Grimbacher B, and Klein C

Subjects
Medicine
Published
2010
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6. DELETERIOUS LRBA MUTATIONS IN A NOVEL SYNDROME OF IMMUNE DEFICIENCY AND AUTOIMMUNITY

Author

GABRIELA LOPEZ HERRERA, Tampella, G., Pan-Hammarstrom, Q., Herholz, P., Trujillo-Vargas, C. M., Phadwal, K., Simon, A. K., Moutschen, M., Etzioni, A., Mory, A., Srugo, I., Melamed, D., Hultenby, K., Liu, C., Baronio, M., Vitali, M., Philippet, P., Dideberg, V., Aghamohammadi, A., Rezai, N., Enright, V., Du, L., Salzer, U., Eibel, H., Pfeifer, D., Veelken, H., Stauss, H., Lougaris, V., Plebani, A., Gertz, E. M., Schaeffer, A. A., Hammarstrom, L., and Grimbacher, B.

Published
2012

7. Dock8 deficiency and a diagnostic score to differentiate it from other Hyper-IGE syndromes

Author

Engelhardt, K. R., Gertz, E. M., Keleş, S., Schaeffer, Alejandro A., Ceja, R., Sassi, A., Massaad, M. J., Mellouli, F., Benmustapha, I., Khemiri, M., Etzioni, A., Freeman, A. F., Thiel, J., Schulze, I., Al-Herz, W., Metin, A., Sanal, O., Yeganeh, M., Niehues, T., Siepermann, K., Ünal, E., Patıroğlu, T., Dasouki, M., Yılmaz, Mustafa, Genel, F., Aytekin, C., Kütükçüler, N., Somer, Ayper, Kılıç, M., Reisli, I., Camcıoğlu, Y., Gennery, A. R., Cant, A. J., Jones, A., Gaspar, H. B., Arkwright, P. D., Pietrogrande, M. C., Baz, Z., Al-Tamemi, Salem, Lougaris, V., Lefranc, G., Megarbane, Andre, Boutros, J., Galal, N., Bejaoui, Mohamed, Barbouche, R., Geha, R. S., Chatila, T. A., Grimbacher, B., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünolojisi Bölümü., Kılıç, Sara Şebnem, and AAH-1658-2021

Subjects
Immunology
Abstract

Bu çalışma, 3-6 Ekim 2012'de Floransa[İtalya]'da düzenlenen 15. Biennial Meeting European-Society-for-Immunodeficiency (ESID)'de bildiri olarak sunulmuştur. European Soc Immunodeficiency (ESID) Int Nursing Grp Immunodeficiencies (INGID) Int Patient Org Primary Immunodeficiencies (IPOPI)

Published
2012

8. Early-onset inflammatory bowel disease caused by mutant IL10 receptor

Author

Glocker, E O, primary, Kotlarz, D, additional, Boztug, K, additional, Gertz, E M, additional, Schäffer, A A, additional, Noyan, F, additional, Perro, M, additional, Diestelhorst, J, additional, Allroth, A, additional, Murugan, D, additional, Hätscher, N, additional, Pfeifer, D, additional, Sykora, K W, additional, Sauer, M, additional, Kreipe, H, additional, Lacher, M, additional, Nustede, R, additional, Woellner, C, additional, Baumann, U, additional, Salzer, U, additional, Koletzko, S, additional, Shah, N, additional, Segal, A W, additional, Sauerbrey, A, additional, Buderus, S, additional, Snapper, S B, additional, Grimbacher, B, additional, and Klein, C, additional

Published
2010
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9. Human JAGN1 Deficiency Causes Disturbed Myeloid Cell Homeostasis and Severe Congenital Neutropenia

Author

Boztug, K., Jaervinen, P. M., Salzer, E., Racek, T., Moench, S., Garncarz, W., Gertz, E. M., Antonopoulos, A., Haslam, S., Schieck, L., Puchalka, J., Diestelhorst, J., Appaswamy, G., Lescoeur, B., Giambruno, R., Bigenzahn, J. W., Elling, U., Pfeifer, D., Welte, K., Brandes, G., Sherkat, R., Ten Bosch, J. Werff, Rezaei, N., Etzioni, A., Bellanne-Chantelot, C., Giulio Superti-Furga, Penninger, J. M., Bennett, K. L., Blume, J., Dell, A., Donadieu, J., and Klein, C.

10. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome

Author

Woellner, C., Gertz, M. E., Schaffer, A. A., Lagos, M., Perro, M., Glocker, E. -O, Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitanska-Pliszka, E., Yeganch, M., Moin, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sanchez, B., Garty, B-Z, Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Batimann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarstrom, L., Davies, G. E., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Sujoy Khan, Marodi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. M., Grimbacher, B., Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., and Grimbacher, B.

Subjects
Hyper-IgE syndrome, STAT3 mutation, TH17 cell, Job syndrome, diagnostic guideline, HIES, Immunodeficiencies
Abstract

BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients. METHODS: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation. RESULTS: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3.

Published
2010

11. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job’s syndrome/STAT3 deficiency

Author

Woellner C., Gertz E.m., Schaeffer A.A., Lagos M., Perro M., Pietrogrande M.C., Cossu F., Franco J.L., Matamoros N., Pietrucha B., Heropolianska Pliszka E., Yeganeh M., Espanol T., Ehl S., Gennery A.r., Abinun M., Breborowics A., Niehues T., Kilic S.S., Junker A., Turvey S., Plebani A., Sanchez B., Garty B.Z., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A., Hammarstrom L., Davies E.G., Eren E., Arkwright P.D., Moilanen J.S., Viemann D., Khan S., Marodi L., Cant A.M., Puck J.M., Holland S.M., Grimbacher B., PIGNATA, CLAUDIO, Woellner, C., Gertz, E. m., Schaeffer, A. A., Lagos, M., Perro, M., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolianska Pliszka, E., Yeganeh, M., Espanol, T., Ehl, S., Gennery, A. r., Abinun, M., Breborowics, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S., Plebani, A., Sanchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A., Hammarstrom, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Marodi, L., Cant, A. M., Puck, J. M., Holland, S. M., and Grimbacher, B.

Published
2008

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