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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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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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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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Novel STAT‐3 gain‐of‐function variant with hypogammaglobulinemia and recurrent infection phenotype

Clinical and experimental immunology, 2021-09, Vol.205 (3), p.354-362

2021

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A novel mutation in SLC39A7 identified in a patient with autosomal recessive agammaglobulinemia: The impact of the J Project

Pediatric allergy and immunology, 2022-06, Vol.33 (6), p.e13805-n/a

2022

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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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Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy

Clinical endocrinology (Oxford), 2010-05, Vol.72 (5), p.641-647

2010

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The Evolving View of IL-17-Mediated Immunity in Defense Against Mucocutaneous Candidiasis in Humans

International reviews of immunology, 2015-05, Vol.34 (4), p.348

2015

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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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Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease

Human mutation, 2005-05, Vol.25 (5), p.506-506

2005

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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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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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Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification

European journal of haematology, 2013-10, Vol.91 (4), p.369-375

2013

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Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome

European journal of haematology, 2010-03, Vol.84 (3), p.274-275

2010

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Hepatic abscess as the single manifestation of X-linked chronic granulomatous disease

Pediatric blood & cancer, 2012-05, Vol.58 (5), p.828-829

2012

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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

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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Recurrent CXCR4 sequence variation in a girl with WHIM syndrome

European journal of haematology, 2007-01, Vol.78 (1), p.86-88

2007

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

Case Report: Association between cyclic neutropenia and SRP54 deficiency

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

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

Novel STAT‐3 gain‐of‐function variant with hypogammaglobulinemia and recurrent infection phenotype

A novel mutation in SLC39A7 identified in a patient with autosomal recessive agammaglobulinemia: The impact of the J Project

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

Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy

The Evolving View of IL-17-Mediated Immunity in Defense Against Mucocutaneous Candidiasis in Humans

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

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease

Dectin-1 Deficiency and Mucocutaneous Fungal Infections

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

Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification

Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome

Hepatic abscess as the single manifestation of X-linked chronic granulomatous disease

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

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome

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

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