Raphaela Goldbach-Mansky Selected Research

Majeed syndrome

1/2021	Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.
6/2013	Monogenic autoinflammatory diseases: concept and clinical manifestations.
12/2011	A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

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Raphaela Goldbach-Mansky Research Topics

Disease

35	Cryopyrin-Associated Periodic Syndromes 01/2022 - 12/2002
24	Inflammation (Inflammations) 01/2022 - 08/2006
12	Bites and Stings (Sting) 01/2022 - 09/2015
11	Fever (Fevers) 05/2021 - 08/2007
9	Rheumatoid Arthritis 01/2018 - 01/2003
8	Macrophage Activation Syndrome 01/2022 - 10/2014
6	Mevalonate Kinase Deficiency 01/2022 - 06/2013
6	Infections 01/2021 - 08/2007
6	Exanthema (Rash) 07/2017 - 08/2006
6	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2014 - 12/2011
5	Osteomyelitis 01/2021 - 12/2011
5	Gout 01/2014 - 01/2008
4	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 01/2022 - 12/2008
4	Lung Diseases (Lung Disease) 01/2022 - 09/2010
4	Familial Mediterranean Fever (Periodic Disease) 01/2021 - 06/2013
4	Skin Diseases (Skin Disease) 01/2021 - 11/2013
4	Dermatomyositis (Dermatopolymyositis) 01/2020 - 11/2019
3	Necrosis 01/2022 - 01/2021
3	chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature 01/2022 - 03/2012
3	COVID-19 01/2022 - 10/2020
3	Lipodystrophy 01/2021 - 11/2015
3	Majeed syndrome 01/2021 - 12/2011
3	autosomal dominant familial Periodic fever 01/2021 - 07/2008
3	Interstitial Lung Diseases (Interstitial Lung Disease) 01/2020 - 07/2015
3	Aseptic Meningitis 06/2017 - 08/2007
3	Arthritis (Polyarthritis) 01/2014 - 01/2003
2	Neutropenia 01/2022 - 01/2021
2	Pyogenic arthritis, pyoderma gangrenosum, and acne 01/2021 - 06/2013
2	Lymphadenitis (Adenitis) 01/2021 - 04/2011
2	Aphthous Stomatitis (Aphthous Ulcer) 01/2021 - 04/2011
2	Pneumonia (Pneumonitis) 01/2021 - 10/2020
2	Pharyngitis (Sore Throat) 01/2021 - 04/2011
2	Autoimmune Diseases (Autoimmune Disease) 01/2020 - 01/2018
2	Myositis (Idiopathic Inflammatory Myopathies) 01/2020 - 07/2015
2	Enterocolitis 01/2018 - 09/2010
2	Chronic Disease (Chronic Diseases) 01/2018 - 11/2015
2	Hearing Loss (Hearing Impairment) 12/2017 - 08/2011
2	Body Weight (Weight, Body) 12/2017 - 08/2006
2	Anaphylaxis (Anaphylactic Shock) 07/2017 - 05/2009
2	Urticaria (Hives) 06/2017 - 05/2009
2	Coronary Artery Disease (Coronary Atherosclerosis) 01/2014 - 09/2010
2	Neoplasms (Cancer) 01/2011 - 09/2009
2	Joint Diseases (Joint Disease) 08/2007 - 01/2003
2	Spondylarthropathies 04/2003 - 01/2003
1	Thrombocytosis (Thrombocythemia) 01/2022
1	Aicardi-Goutieres syndrome 01/2022
1	Leukopenia 01/2022
1	Anemia 01/2022
1	Genetic Predisposition to Disease (Genetic Predisposition) 01/2022
1	Eosinophilia 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Thrombocytopenia (Thrombopenia) 01/2022
1	Asthma (Bronchial Asthma) 01/2021

Drug/Important Bio-Agent (IBA)

26	Interleukin-1 (Interleukin 1)IBA 01/2022 - 12/2002
15	Interleukin 1 Receptor Antagonist Protein (Anakinra)FDA Link 12/2017 - 08/2006
12	InflammasomesIBA 01/2022 - 12/2009
11	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2006
10	Interleukin-1 Receptors (Interleukin 1 Receptor)IBA 01/2022 - 12/2002
9	InterferonsIBA 01/2022 - 01/2018
9	AutoantibodiesIBA 10/2020 - 01/2003
8	Biomarkers (Surrogate Marker)IBA 01/2022 - 08/2008
8	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022 - 03/2012
7	Interleukin-18 (Interleukin 18)IBA 01/2020 - 07/2015
6	CytokinesIBA 01/2021 - 12/2002
6	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 12/2002
5	Acute-Phase Proteins (Acute-Phase Protein)IBA 01/2021 - 07/2008
5	InterleukinsIBA 11/2013 - 07/2008
4	Interferon Type IIBA 01/2022 - 07/2015
4	baricitinibIBA 01/2022 - 04/2015
3	Pharmaceutical PreparationsIBA 01/2022 - 08/2008
3	Deficiency of interleukin-1 receptor antagonistIBA 01/2021 - 06/2012
3	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2021 - 07/2008
3	Biological ProductsIBA 07/2020 - 09/2006
3	PyrinIBA 01/2020 - 12/2002
3	C-Reactive ProteinIBA 06/2017 - 08/2008
3	canakinumab FDA Link 01/2017 - 12/2011
3	AntibodiesIBA 09/2009 - 01/2003
2	UbiquitinIBA 01/2022 - 01/2021
2	EnzymesIBA 05/2021 - 04/2003
2	LigandsIBA 01/2021 - 02/2017
2	Immunoglobulin E (IgE)IBA 01/2021 - 05/2009
2	Immunoglobulin G (IgG)IBA 10/2020 - 01/2003
2	Interleukin-6 (Interleukin 6)IBA 07/2020 - 01/2017
2	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2020 - 12/2011
2	Adenosine DeaminaseIBA 01/2020 - 03/2014
2	Etanercept (Enbrel)FDA Link 12/2017 - 05/2009
2	Serum Amyloid A Protein (Serum Amyloid A)IBA 06/2017 - 08/2008
2	Uric Acid (Urate)IBA 01/2014 - 01/2008
2	NF-kappa B (NF-kB)IBA 05/2012 - 05/2012
2	rilonacept FDA Link 12/2011 - 08/2008
2	Sulfasalazine (Azulfidine)FDA LinkGeneric 08/2009 - 05/2009
2	Interleukin-1beta (Interleukin 1 beta)IBA 08/2008 - 08/2006
1	Nucleic AcidsIBA 01/2022
1	ProteomeIBA 01/2022
1	HLA-A Antigens (HLA-A)IBA 01/2022
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 05/2021

Therapy/Procedure

10	Therapeutics 07/2020 - 07/2008
2	Aftercare (After-Treatment) 01/2017 - 01/2012
2	Biological Therapy 01/2016 - 05/2009
2	Injections 05/2009 - 08/2006