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Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome

Central-European journal of immunology, 2023-01, Vol.48 (3), p.228-236

2023

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Case Report: Association between cyclic neutropenia and SRP54 deficiency

Frontiers in immunology, 2022-09, Vol.13

2022

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Molecular genetic studies in primary immunodeficiencies

Orvosi hetilap, 2018-12, Vol.159 (49), p.2095

Erdős, Melinda

2018

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Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

Journal of clinical immunology, 2021-05, Vol.41 (4), p.817-819

2021

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Neonatal screening of severe combined immunodeficiencies

Orvosi hetilap, 2018-06, Vol.159 (23), p.948

Erdős, Melinda

2018

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Chronic mucocutaneous candidiasis

Orvosi hetilap, 2022-01, Vol.163 (5), p.171

2022

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Persistently Increased Anti-cytokine Antibodies Without Clinical Disease in a Boy with APS1 Genotype

Journal of clinical immunology, 2022-02, Vol.42 (2), p.433-436

2022

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Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Frontiers in genetics, 2023-06, Vol.14, p.1158108

2023

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IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

Journal of medical genetics, 2007-01, Vol.44 (1), p.16-23

2007

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Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation

Frontiers in immunology, 2020-05, Vol.11, p.967

2020

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Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

Journal of clinical immunology, 2014-02, Vol.34 (2), p.181-193

2014

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Oral manifestations in patients with primary immunodeficiencies

Orvosi hetilap, 2018-12, Vol.159 (49), p.2079

2018

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

Molecular immunology, 2011-02, Vol.48 (5), p.788-792

2011

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Dectin-1 Deficiency and Mucocutaneous Fungal Infections

The New England journal of medicine, 2010-01, Vol.362 (4), p.367-368

2010

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Niemann–Pick disease: own observations and new therapeutic options

Orvosi hetilap, 2021-01, Vol.162 (2), p.74

Erdős, Melinda

2021

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Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature

Clinical immunology (Orlando, Fla.), 2008-12, Vol.129 (3), p.455-461

2008

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Association of Renal Ectopia With Fabry's Disease in 3 Patients

The Journal of urology, 2009-04, Vol.181 (4), p.1949-1954

2009

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Recurrent infection with genetically identical pneumococcal isolates in a patient with interleukin-1 receptor-associated kinase-4 deficiency

Journal of medical microbiology, 2007-06, Vol.56 (6), p.863-865

2007

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Enzyme replacement therapy for Gaucher disease introduced in late adulthood

Orvosi hetilap, 2012-02, Vol.153 (7), p.264

2012

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Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the α-galactosidase A gene

Brain (London, England : 1878), 2005-09, Vol.128 (9), p.2078-2083

2005

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Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

Experimental hematology, 2006-11, Vol.34 (11), p.1517-1521

2006

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Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome

Immunology letters, 2005-02, Vol.97 (1), p.1-6

2005

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Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

Molecular immunology, 2008-01, Vol.45 (1), p.278-282

2008

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Genetic and clinical features of patients with Gaucher disease in Hungary

Blood cells, molecules, & diseases, 2007-07, Vol.39 (1), p.119-123

2007

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Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins

Clinical chemistry (Baltimore, Md.), 2006-05, Vol.52 (5), p.901-903

2006

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Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome

Case Report: Association between cyclic neutropenia and SRP54 deficiency

Molecular genetic studies in primary immunodeficiencies

Inherited TOP2B Mutation: Possible Confirmation of Mutational Hotspots in the TOPRIM Domain

Neonatal screening of severe combined immunodeficiencies

Chronic mucocutaneous candidiasis

Persistently Increased Anti-cytokine Antibodies Without Clinical Disease in a Boy with APS1 Genotype

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation

Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

Oral manifestations in patients with primary immunodeficiencies

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

Dectin-1 Deficiency and Mucocutaneous Fungal Infections

Niemann–Pick disease: own observations and new therapeutic options

Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature

Association of Renal Ectopia With Fabry's Disease in 3 Patients

Recurrent infection with genetically identical pneumococcal isolates in a patient with interleukin-1 receptor-associated kinase-4 deficiency

Enzyme replacement therapy for Gaucher disease introduced in late adulthood

Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the α-galactosidase A gene

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene

Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome

Genetic and clinical features of patients with Gaucher disease in Hungary

Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins

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