• 8207 Citations
  • 45 h-Index
1978 …2019
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Research Output 1978 2019

  • 8207 Citations
  • 45 h-Index
  • 178 Article
  • 8 Chapter
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Article
2019

Tolerability of subcutaneous immunoglobulin 20%, Ig20Gly, in pediatric patients with primary immunodeficiencies

Paris, K., Haddad, E., Borte, M., Brodszki, N., Dérfalvi, B., Máródi, L., Hussain, I., Darter, A., Engl, W., Leibl, H., McCoy, B. & Yel, L., ápr. 1 2019, In : Immunotherapy. 11, 5, p. 397-406 10 p.

Research output: Article

Immunoglobulins
Pediatrics
2018
10 Citations (Scopus)

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Germain, D. P., Brand, E., Burlina, A., Cecchi, F., Garman, S. C., Kempf, J., Laney, D. A., Linhart, A., Máródi, L., Nicholls, K., Ortiz, A., Pieruzzi, F., Shankar, S. P., Waldek, S., Wanner, C. & Jovanovic, A., jan. 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Article

Fabry Disease
Registries
Mutation
Kidney
Natural History
2016
137 Citations (Scopus)

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Gomez, M. L., Becerra, J. C. A., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J. & 14 others, Renner, E. D., Rosenzweig, S., Grimbacher, B., Van De Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Máródi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. L. & Puel, A., jún. 23 2016, In : Blood. 127, 25, p. 3154-3164 11 p.

Research output: Article

Skin
Chronic Mucocutaneous Candidiasis
BCG Vaccine
Phenotype
Mutation
2015

A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene

Gulácsy, V., Soltész, B., Petrescu, C., Bataneant, M., Gyimesi, E., Serban, M., Máródi, L. & Tóth, B., júl. 1 2015, In : European Journal of Haematology. 95, 1, p. 93-98 6 p.

Research output: Article

Wiskott-Aldrich Syndrome Protein
Exons
Nucleotides
Sequence Deletion
Introns
111 Citations (Scopus)

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

Aydin, S. E., Kilic, S. S., Aytekin, C., Kumar, A., Porras, O., Kainulainen, L., Kostyuchenko, L., Genel, F., Kütükcüler, N., Karaca, N., Gonzalez-Granado, L., Abbott, J., Al-Zahrani, D., Rezaei, N., Baz, Z., Thiel, J., Ehl, S., Máródi, L., Orange, J. S., Sawalle-Belohradsky, J. & 42 others, Keles, S., Holland, S. M., Sanal, Ö., Ayvaz, D. C., Tezcan, I., Al-Mousa, H., Alsum, Z., Hawwari, A., Metin, A., Matthes-Martin, S., Hönig, M., Schulz, A., Picard, C., Barlogis, V., Gennery, A., Ifversen, M., van Montfrans, J., Kuijpers, T., Bredius, R., Dückers, G., Al-Herz, W., Pai, S. Y., Geha, R., Notheis, G., Schwarze, C. P., Tavil, B., Azik, F., Bienemann, K., Grimbacher, B., Heinz, V., Gaspar, H. B., Aydin, R., Hagl, B., Gathmann, B., Belohradsky, B. H., Ochs, H. D., Chatila, T., Renner, E. D., Su, H., Freeman, A. F., Engelhardt, K. & Albert, M. H., 2015, In : Journal of Clinical Immunology. 35, 2, p. 189-198 10 p.

Research output: Article

Hematopoietic Stem Cell Transplantation
Phenotype
Neoplasms
Job Syndrome
Central Nervous System Vasculitis
7 Citations (Scopus)
Job Syndrome
Skin
Atopic Dermatitis
Immunoglobulin E
Th17 Cells
23 Citations (Scopus)

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis

Wolska-Kuśnierz, B., Gregorek, H., Chrzanowska, K., Piątosa, B., Pietrucha, B., Heropolitańska-Pliszka, E., Pac, M., Klaudel-Dreszler, M., Kostyuchenko, L., Pasic, S., Máródi, L., Belohradsky, B. H., Čižnár, P., Shcherbina, A., Kilic, S. S., Baumann, U., Seidel, M. G., Gennery, A. R., Syczewska, M., Mikołuć, B. & 9 others, Kałwak, K., Styczyński, J., Pieczonka, A., Drabko, K., Wakulińska, A., Gathmann, B., Albert, M. H., Skarżyńska, U. & Bernatowska, E., aug. 14 2015, In : Journal of Clinical Immunology. 35, 6, p. 538-549 12 p.

Research output: Article

Nijmegen Breakage Syndrome
Hematopoietic Stem Cell Transplantation
Neoplasms
Non-Hodgkin's Lymphoma
Survival
45 Citations (Scopus)

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

Rieber, N., Singh, A., Öz, H., Carevic, M., Bouzani, M., Amich, J., Ost, M., Ye, Z., Ballbach, M., Schäfer, I., Mezger, M., Klimosch, S. N., Weber, A. N. R., Handgretinger, R., Krappmann, S., Liese, J., Engeholm, M., Schüle, R., Salih, H. R., Máródi, L. & 7 others, Speckmann, C., Grimbacher, B., Ruland, J., Brown, G. D., Beilhack, A., Loeffler, J. & Hartl, D., ápr. 8 2015, In : Cell Host and Microbe. 17, 4, p. 507-514 8 p.

Research output: Article

Immunity
Fungi
Candida albicans
Aspergillus fumigatus
Infection
3 Citations (Scopus)

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene

Tóth, B., Soltész, B., Gyimesi, E., Csorba, G., Veres, Lányi, A., Kovács, G., Máródi, L. & Erdős, M., 2015, In : Journal of Clinical Immunology. 35, 1, p. 26-31 6 p.

Research output: Article

Phenotype
Mutation
Complementary DNA
Mothers
Genes

Sindrom hiper-IgM atipic. Prezentare de caz

Iurian, S. I., Máródi, L. & Picard, C., szept. 1 2015, In : Revista Romana de Medicina de Laborator. 23, 3, p. 341-346 6 p.

Research output: Article

Hyper-IgM Immunodeficiency Syndrome
Immunoglobulin M
Candida
Immunoglobulins
CD40 Ligand
13 Citations (Scopus)

Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe

Turley, A. J., Gathmann, B., Bangs, C., Bradbury, M., Seneviratne, S., Gonzalez-Granado, L. I., Hackett, S., Kutukculer, N., Alachkar, H., Hambleton, S., Ritterbusch, H., Kralickova, P., Máródi, L., Seidel, M. G., Dueckers, G., Roesler, J., Huissoon, A., Baxendale, H., Litzman, J. & Arkwright, P. D., 2015, In : Journal of Clinical Immunology. 35, 2, p. 199-205 7 p.

Research output: Article

Hereditary Angioedemas
Infection
Pneumococcal Infections
Neisseria meningitidis
Antibiotic Prophylaxis
7 Citations (Scopus)
Interleukin-17
Candidiasis
Interleukins
Immunity
Candida
2014
24 Citations (Scopus)
Autoimmune Polyendocrinopathies
Interleukin-17
Candidiasis
Autoantibodies
Chronic Mucocutaneous Candidiasis
8 Citations (Scopus)

Europe immunoglobulin map

the European Immunoglobulin Map Group (35 European Countries) for the European Society for Immunodeficiencies (ESID) Primary Immunodeficiencies Care in Development Working Party, dec. 1 2014, In : Clinical and Experimental Immunology. 178, S1, p. 141-143 3 p.

Research output: Article

196 Citations (Scopus)

Gene therapy for Wiskott-Aldrich syndrome-long-term efficacy and genotoxicity

Braun, C. J., Boztug, K., Paruzynski, A., Witzel, M., Schwarzer, A., Rothe, M., Modlich, U., Beier, R., Göhring, G., Steinemann, D., Fronza, R., Ball, C. R., Haemmerle, R., Naundorf, S., Kühlcke, K., Rose, M., Fraser, C., Mathias, L., Ferrari, R., Abboud, M. R. & 10 others, Al-Herz, W., Kondratenko, I., Máródi, L., Glimm, H., Schlegelberger, B., Schambach, A., Albert, M. H., Schmidt, M., Van Kalle, C. & Klein, C., márc. 12 2014, In : Science Translational Medicine. 6, 227, 227ra33.

Research output: Article

Wiskott-Aldrich Syndrome
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Acute Myeloid Leukemia
Genetic Therapy
Cell- and Tissue-Based Therapy
49 Citations (Scopus)

Gene therapy for Wiskott-Aldrich syndrome-long - Term efficacy and genotoxicity (Science Translational Medicine)

Braun, C. J., Boztug, K., Paruzynski, A., Witzel, M., Schwarzer, A., Rothe, M., Modlich, U., Beier, R., Göhring, G., Steinemann, D., Fronza, R., Ball, C. R., Haemmerle, R., Naundorf, S., Kühlcke, K., Rose, M., Fraser, C., Mathias, L., Ferrari, R., Abboud, M. R. & 10 others, Al-Herz, W., Kondratenko, I., Máródi, L., Glimm, H., Schlegelberger, B., Schambach, A., Albert, M. H., Schmidt, M., Von Kalle, C. & Klein, C., szept. 17 2014, In : Science Translational Medicine. 6, 254, 254er4.

Research output: Article

10 Citations (Scopus)

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation

Hennig, C., Ilginus, C., Boztug, K., Skokowa, J., Máródi, L., Szaflarska, A., Sass, M., Pignata, C., Kilic, S. S., Caragol, I., Baumann, U., Klein, C., Welte, K. & Hansen, G., jan. 2014, In : Journal of Allergy and Clinical Immunology. 133, 1

Research output: Article

B-Lymphocytes
Biomarkers
Antibodies
RNA
DNA Repair Enzymes
24 Citations (Scopus)
Atopic Dermatitis
Inflammation
Skin
Mutation
Haploinsufficiency
2013
15 Citations (Scopus)

Analysis of lyso-globotriaosylsphingosine in dried blood spots

Johnson, B., Mascher, H., Mascher, D., Legnini, E., Hung, C. Y., Dajnoki, A., Chien, Y. H., Máródi, L., Hwu, W. L. & Bodamer, O. A., 2013, In : Annals of Laboratory Medicine. 33, 4, p. 274-278 5 p.

Research output: Article

Fabry Disease
Blood
Newborn Infant
Mass spectrometry
Galactosidases
31 Citations (Scopus)

Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type i features in early childhood

Wolff, A. S. B., Sarkadi, A. K., Máródi, L., Kärner, J., Orlova, E., Oftedal, B. E. V., Kisand, K., Oláh, E., Meloni, A., Myhre, A. G., Husebye, E. S., Motaghedi, R., Perheentupa, J., Peterson, P., Willcox, N. & Meager, A., nov. 2013, In : Journal of Clinical Immunology. 33, 8, p. 1341-1348 8 p.

Research output: Article

Autoantibodies
Interferons
Cytokines
Siblings
Interleukin-17
58 Citations (Scopus)

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

Soltész, B., Tóth, B., Shabashova, N., Bondarenko, A., Okada, S., Cypowyj, S., Abhyankar, A., Csorba, G., Taskó, S., Sarkadi, A. K., Méhes, L., Rozsíval, P., Neumann, D., Chernyshova, L., Tulassay, Z., Puel, A., Casanova, J. L., Sediva, A., Litzman, J. & Maródi, L., 2013, In : Journal of Medical Genetics. 50, 9, p. 567-578 12 p.

Research output: Article

Chronic Mucocutaneous Candidiasis
Eastern Europe
Mutation
Interleukin-17
Intracranial Aneurysm
3 Citations (Scopus)
Cytokinesis
Multiplex Polymerase Chain Reaction
Exons
Mutation
DNA Mutational Analysis
2 Citations (Scopus)

The role of human IL-17 immunity in fungal disease

Máródi, L., Cypowyj, S., Casanova, J. L. & Puel, A., jún. 2013, In : Current Fungal Infection Reports. 7, 2, p. 132-137 6 p.

Research output: Article

Interleukin-17
Mycoses
Candida
Immunity
Invasive Candidiasis
6 Citations (Scopus)

The spread of the J project

Horváth, Z., Rezaei, N., Reisli, I., Tuzankina, I., Otarbayev, N., Popandopulo, P. & Máródi, L., aug. 2013, In : Journal of Clinical Immunology. 33, 6, p. 1037-1042 6 p.

Research output: Article

Eastern Europe
Western Asia
Research
Genes
Economics
2012
Allergy and Immunology
3 Citations (Scopus)
Chronic Granulomatous Disease
Liver Abscess
Sulfamethoxazole Drug Combination Trimethoprim
47 Citations (Scopus)

Herpes in STAT1 deficiency

Tóth, B., Méhes, L., Taskó, S., Szalai, Z., Tulassay, Z., Cypowyj, S., Casanova, J. L., Puel, A. & Máródi, L., jún. 2012, In : The Lancet. 379, 9835, p. 2500 1 p.

Research output: Article

1 Citation (Scopus)

Idoskorban kezdett enzimszubsztitúciós terápia Gaucher-kórban

Juhász, P., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2012, In : Orvosi Hetilap. 153, 7, p. 264-270 7 p.

Research output: Article

Enzyme Replacement Therapy
Gaucher Disease
Glucosylceramidase
Bone and Bones
Spontaneous Fractures
51 Citations (Scopus)

IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients

Weller, S., Bonnet, M., Delagreverie, H., Israel, L., Chrabieh, M., Máródi, L., Rodriguez-Gallego, C., Garty, B. Z., Roifman, C., Issekutz, A. C., Zitnik, S. E., Hoarau, C., Camcioglu, Y., Vasconcelos, J., Rodrigo, C., Arkwright, P. D., Cerutti, A., Meffre, E., Zhang, S. Y., Alcais, A. & 5 others, Puel, A., Casanova, J. L., Picard, C., Weill, J. C. & Reynaud, C. A., dec. 13 2012, In : Blood. 120, 25, p. 4992-5001 10 p.

Research output: Article

Interleukin-1 Receptor-Associated Kinases
Immunoglobulin D
Immunoglobulin M
B-Lymphocytes
Cells
88 Citations (Scopus)

Immunity to infection in IL-17-deficient mice and humans

Cypowyj, S., Picard, C., Máródi, L., Casanova, J. L. & Puel, A., szept. 2012, In : European Journal of Immunology. 42, 9, p. 2246-2254 9 p.

Research output: Article

Interleukin-17
Immunity
Chronic Mucocutaneous Candidiasis
Infection
Mutation
155 Citations (Scopus)

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

Puel, A., Cypowyj, S., Máródi, L., Abel, L., Picard, C. & Casanova, J. L., dec. 2012, In : Current Opinion in Allergy and Clinical Immunology. 12, 6, p. 616-622 7 p.

Research output: Article

Chronic Mucocutaneous Candidiasis
Interleukin-17
Immunity
Job Syndrome
Autoimmune Polyendocrinopathies
2 Citations (Scopus)
CD40 Ligand
Twin Pregnancy
Molecular Pathology
Type 1 Hyper-IgM Immunodeficiency Syndrome
Fetus
35 Citations (Scopus)

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

Máródi, L., Cypowyj, S., Tóth, B., Chernyshova, L., Puel, A. & Casanova, J. L., nov. 2012, In : Journal of Allergy and Clinical Immunology. 130, 5, p. 1019-1027 9 p.

Research output: Article

Staphylococcus
Candida
Immunity
STAT Transcription Factors
Mutation
9 Citations (Scopus)

Phagocytosis and intracellular killing of heterogeneous vancomycin-intermediate Staphylococcus aureus strains

Méhes, L., Taskó, S., Székely, A., Tóth, A., Ungvári, E., Erdei, I., Dombrádi, Z., Szabó, J. & Máródi, L., febr. 2012, In : Journal of Medical Microbiology. 61, 2, p. 198-203 6 p.

Research output: Article

Vancomycin
Phagocytosis
Staphylococcus aureus
Methicillin
Granulocytes
83 Citations (Scopus)

Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation

Warnock, D. G., Ortiz, A., Mauer, M., Linthorst, G. E., Oliveira, J. P., Serra, A. L., Máródi, L., Mignani, R., Vujkovac, B., Beitner-Johnson, D., Lemay, R., Cole, A., Svarstad, E., Waldek, S., Germain, D. P. & Wanner, C., máj. 2012, In : Nephrology Dialysis Transplantation. 27, 3, p. 1042-1049 8 p.

Research output: Article

Fabry Disease
Proteinuria
Kidney
Disease Progression
Glomerular Filtration Rate
10 Citations (Scopus)

The cognitive profile of type 1 Gaucher disease patients

Biegstraaten, M., Wesnes, K. A., Luzy, C., Petakov, M., Mrsic, M., Niederau, C., Giraldo, P., Hughes, D., Mehta, A., Mengel, K. E., Hollak, C. E. M., Máródi, L. & Van Schaik, I. N., nov. 2012, In : Journal of Inherited Metabolic Disease. 35, 6, p. 1093-1099 7 p.

Research output: Article

Gaucher Disease
Aptitude
Cognition
Neurologic Manifestations
Short-Term Memory
83 Citations (Scopus)

The European internet-based patient and research database for primary immunodeficiencies: Update 2011

Gathmann, B., Binder, N., Ehl, S., Kindle, G., Mahlaoui, N., Devergnes, N., Brosselin, P., Sanal, Ö., Yegin, O., Kütükcüler, N., Kilic, S. S., Barlan, I. B., Reisli, I., Caracseghi, F., Santos, J. L., Llobet, P., Carbone, J., Gonzalez, L. I. G., Sanchez-Ramon, S., Tricas, L. & 78 others, Matamoros, N., Exley, A., Kumararatne, D., Allwood, Z., Grimbacher, B., Longhurst, H., Knerr, V., Bangs, C., Boardman, B., Tierney, P., Chapel, H., Notarangelo, L. D., Plebani, A., Pignata, C., Nickel, R., Schauer, U., Späth, B., Kaiser, P., Roesler, J., Bienemann, K., Linde, R., Schubert, R., El-Helou, S., Ritterbusch, H., Goldacker, S., Schaefer, M., Baumann, U., Witte, T., Dückers, G., Fabhauer, M., Borte, M., Notheis, G., Belohradsky, B. H., Sollinger, F., Classen, C. F., Apel, K., Steinmann, S., Müglich, C., Szaflarska, A., Bernatowska, E., Heropolitanska, E., Kuijpers, T. W., van Beem, R., Galal, N. M., Reda, S., Farber, C. M., Meyts, I., Velbri, S., Kanariou, M., Farmaki, E., Papadopoulou-Alataki, E., Trachana, M., Richter, D., Blaziene, A., Seidel, M., Marques, L., Feighery, C., Cucuruz, M., Konoplyannikova, J., Paschenko, O., Shcherbina, A., Berglöf, A., Jardefors, H., Wagström, P., Brodszki, N., Cantoni, N., Duppenthaler, A., Fahrni, G., Hoernes, M., Sahrbacher, U., Pasic, S., Ciznar, P., Jeverica, A. K., Litzman, J., Hlavackova, E., Savchak, I., Farkas, H. & Máródi, L., márc. 2012, In : Clinical and Experimental Immunology. 167, 3, p. 479-491 13 p.

Research output: Article

Internet
Databases
Research
Immunoglobulin A
France
2011
5 Citations (Scopus)
X-Linked Genetic Diseases
Agammaglobulinemia
Fatal Outcome
Intravenous Immunoglobulins
Cytotoxic T-Lymphocytes
422 Citations (Scopus)

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Liu, L., Okada, S., Kong, X. F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., Masson, C., Tóth, B., Flatot, J., Migaud, M., Chrabieh, M., Kochetkov, T., Bolze, A., Borghesi, A., Toulon, A., Hiller, J. & 46 others, Eyerich, S., Eyerich, K., Gulácsy, V., Chernyshova, L., Chernyshov, V., Bondarenko, A., Grimaldo, R. M. C., Blancas-Galicia, L., Beas, I. M. M., Roesler, J., Magdorf, K., Engelhard, D., Thumerelle, C., Burgel, P. R., Hoernes, M., Drexel, B., Seger, R., Kusuma, T., Jansson, A. F., Sawalle-Belohradsky, J., Belohradsky, B., Jouanguy, E., Bustamante, J., Bué, M., Karin, N., Wildbaum, G., Bodemer, C., Lortholary, O., Fischer, A., Blanche, S., Al-Muhsen, S., Reichenbach, J., Kobayashi, M., Rosales, F. E., Lozano, C. T., Kilic, S. S., Oleastro, M., Etzioni, A., Traidl-Hoffmann, C., Renner, E. D., Abel, L., Picard, C., Máródi, L., Boisson-Dupuis, S., Puel, A. & Casanova, J. L., aug. 1 2011, In : Journal of Experimental Medicine. 208, 18, p. 1635-1648 14 p.

Research output: Article

Chronic Mucocutaneous Candidiasis
Interleukin-17
Immunity
Mutation
Interleukin-27
23 Citations (Scopus)

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

Gulácsy, V., Freiberger, T., Shcherbina, A., Pac, M., Chernyshova, L., Avcin, T., Kondratenko, I., Kostyuchenko, L., Prokofjeva, T., Pasic, S., Bernatowska, E., Kutukculer, N., Rascon, J., Iagaru, N., Mazza, C., Tóth, B., Erdodouble acutes, M., van der Burg, M. & Máródi, L., febr. 2011, In : Molecular Immunology. 48, 5, p. 788-792 5 p.

Research output: Article

Wiskott-Aldrich Syndrome
Mutation
Genes
Nonsense Codon
Eczema
4 Citations (Scopus)
Nijmegen Breakage Syndrome
cutaneous Tuberculosis
Microcephaly
Chromosomal Instability
Mycobacterium

Szubkután immunglobulin-pótlás és -terápia

Gulácsy, V. & Máródi, L., jan. 1 2011, In : Orvosi Hetilap. 152, 2, p. 64-67 4 p.

Research output: Article

Passive Immunization
Immunoglobulin G
Intravenous Immunoglobulins
Anaphylaxis
Serum
13 Citations (Scopus)
Eastern Europe
Genes
Medical problems
Technology
Education
2010
10 Citations (Scopus)

A multi-centre study of efficacy and safety of Intratect®, a novel intravenous immunoglobulin preparation

Kreuz, W., Erdős, M., Rossi, P., Bernatowska, E., Espanol, T. & Máródi, L., szept. 2010, In : Clinical and Experimental Immunology. 161, 3, p. 512-517 6 p.

Research output: Article

Intravenous Immunoglobulins
Safety
Bacterial Infections
Hospitalization
Fever
420 Citations (Scopus)

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Puel, A., Döffinger, R., Natividad, A., Chrabieh, M., Barcenas-Morales, G., Picard, C., Cobat, A., Ouachée-Chardin, M., Toulon, A., Bustamante, J., Al-Muhsen, S., Al-Owain, M., Arkwright, P. D., Costigan, C., McConnell, V., Cant, A. J., Abinun, M., Polak, M., Bougnères, P. F., Kumararatne, D. & 9 others, Máródi, L., Nahum, A., Roifman, C., Blanche, S., Fischer, A., Bodemer, C., Abel, L., Lilic, D. & Casanova, J. L., febr. 15 2010, In : Journal of Experimental Medicine. 207, 2, p. 291-297 7 p.

Research output: Article

Chronic Mucocutaneous Candidiasis
Interleukin-17
Autoantibodies
Cytokines
Interferons
10 Citations (Scopus)
Antibodies
Natural History
Communicable Diseases
Therapeutics
Monoclonal Antibodies
220 Citations (Scopus)

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Picard, C., Von Bernuth, H., Ghandil, P., Chrabieh, M., Levy, O., Arkwright, P. D., McDonald, D., Geha, R. S., Takada, H., Krause, J. C., Creech, C. B., Ku, C. L., Ehl, S., Máródi, L., Al-Muhsen, S., Al-Hajjar, S., Al-Ghonaium, A., Day-Good, N. K., Holland, S. M., Gallin, J. I. & 38 others, Chapel, H., Speert, D. P., Rodriguez-Gallego, C., Colino, E., Garty, B. Z., Roifman, C., Hara, T., Yoshikawa, H., Nonoyama, S., Domachowske, J., Issekutz, A. C., Tang, M., Smart, J., Zitnik, S. E., Hoarau, C., Kumararatne, D. S., Thrasher, A. J., Davies, E. G., Bethune, C., Sirvent, N., De Ricaud, D., Camcioglu, Y., Vasconcelos, J., Guedes, M., Vitor, A. B., Rodrigo, C., Almazán, F., Méndez, M., Aróstegui, J. I., Alsina, L., Fortuny, C., Reichenbach, J., Verbsky, J. W., Bossuyt, X., Doffinger, R., Abel, L., Puel, A. & Casanova, J. L., nov. 2010, In : Medicine (United States). 89, 6, p. 403-425 23 p.

Research output: Article

Interleukin-1 Receptor-Associated Kinases
Infection
Bacterial Infections
Pseudomonas aeruginosa
Toll-Like Receptor 1
9 Citations (Scopus)
Nerve Tissue Proteins
Chronic Mucocutaneous Candidiasis
Mycoses
Candida albicans
Cellular Immunity
3 Citations (Scopus)

Dyskeratosis congenita: Molekuláris diagnosztika és terápiás lehetoségek

Reiger, Z. D. R., Varga, G. D. R., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2010, In : Orvosi Hetilap. 151, 8, p. 285-292 8 p.

Research output: Article

Dyskeratosis Congenita
Premature Aging
Mutation
Molecular Pathology
Family Planning Services
2 Citations (Scopus)

Fabry-betegség: Diagnosztikai útmutató

Constantin, T., Rákóczi, É., Ponyi, A., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Csikós, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S., Nagy, V. & 8 others, Magyar, P., Mahdi, M., Németh, K., Bereczki, D., Garami, M., Erdős, M., Máródi, L. & Fekete, G., febr. 1 2010, In : Orvosi Hetilap. 151, 7, p. 243-249 7 p.

Research output: Article

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Delivery of Health Care