Hirschmugl T - Search Results

1

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

Kiykim A, Ogulur I, Baris S, Salzer E, Karakoc-Aydiner E, Ozen AO, Garncarz W, Hirschmugl T, Krolo A, Yucelten AD, Boztug K, Barlan IB. Kiykim A, et al. Among authors: hirschmugl t. J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2. J Clin Immunol. 2015. PMID: 26233237

2

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, Pickl W, Förster-Waldl E, Boztug K. Boztug H, et al. Among authors: hirschmugl t. J Clin Immunol. 2016 Aug;36(6):533-40. doi: 10.1007/s10875-016-0306-1. Epub 2016 Jun 23. J Clin Immunol. 2016. PMID: 27338827 Free PMC article.

3

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N. Zoghi S, et al. Among authors: hirschmugl t. Allergol Immunopathol (Madr). 2018 Nov-Dec;46(6):594-598. doi: 10.1016/j.aller.2018.02.004. Epub 2018 May 5. Allergol Immunopathol (Madr). 2018. PMID: 29739689

4

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Hauck F, Magg T, Krolo A, Bilic I, Hirschmugl T, Laass M, Rösen-Wolff A, Luksch H, Boztug K, Roesler J. Hauck F, et al. Among authors: hirschmugl t. Klin Padiatr. 2017 May;229(3):113-117. doi: 10.1055/s-0043-104218. Epub 2017 May 30. Klin Padiatr. 2017. PMID: 28561224 English.

5

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, Çağdaş Ayvaz D, Tezcan I, Boztug K. Erman B, et al. Among authors: hirschmugl t. Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523. Scand J Immunol. 2017. PMID: 28109013 Free article.

6

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Erman B, Bilic I, Hirschmugl T, Salzer E, Çagdas D, Esenboga S, Akcoren Z, Sanal O, Tezcan I, Boztug K. Erman B, et al. Among authors: hirschmugl t. Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13. Haematologica. 2015. PMID: 25769540 Free PMC article. No abstract available.

7

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, Partida-Gaytan A, Scheffler-Mendoza SC, Chaia Semerena GM, Alvarez-Cardona A, Suárez Gutiérrez MA, Medina Torres EA, Baeza Capetillo P, Hirschmugl T, Garncarz W, Espinosa-Padilla SE, Aguirre Hernández J, Klein C, Boztug K, Lugo Reyes SO. Velez-Tirado N, et al. Among authors: hirschmugl t. Scand J Immunol. 2022 Apr;95(4):e13136. doi: 10.1111/sji.13136. Epub 2022 Jan 19. Scand J Immunol. 2022. PMID: 34964150 Free article.

8

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG, Hirschmugl T, Gamez-Diaz L, Schwinger W, Serwas N, Deutschmann A, Gorkiewicz G, Zenz W, Windpassinger C, Grimbacher B, Urban C, Boztug K. Seidel MG, et al. Among authors: hirschmugl t. J Allergy Clin Immunol. 2015 May;135(5):1384-90.e1-8. doi: 10.1016/j.jaci.2014.10.048. Epub 2014 Dec 22. J Allergy Clin Immunol. 2015. PMID: 25539626 Free PMC article. No abstract available.

9

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Karaca NE, Aksu G, Ulusoy E, Aksoylar S, Gozmen S, Genel F, Akarcan S, Gulez N, Hirschmugl T, Kansoy S, Boztug K, Kutukculer N. Karaca NE, et al. Among authors: hirschmugl t. Case Reports Immunol. 2016;2016:5459029. doi: 10.1155/2016/5459029. Epub 2016 Sep 6. Case Reports Immunol. 2016. PMID: 27699073 Free PMC article.

10

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Müller H, Jimenez-Heredia R, Krolo A, Hirschmugl T, Dmytrus J, Boztug K, Bock C. Müller H, et al. Among authors: hirschmugl t. Nucleic Acids Res. 2017 Jul 3;45(W1):W567-W572. doi: 10.1093/nar/gkx425. Nucleic Acids Res. 2017. PMID: 28520890 Free PMC article.

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