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View article: Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant Open
Pathogenic variants in the PIK3CA gene, which encodes the p110-α catalytic subunit of the phosphoinositide 3-kinase (PI3K), are commonly associated with overgrowth syndromes and cancer. We report a patient with the point variant c.1030G>…
View article: A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency
A novel hemizygous nonsense variant in DOCK11 causes systemic inflammation and immunodeficiency Open
Hemizygous germline loss-of-function variants in DOCK11, the gene encoding the dedicator of cytokinesis 11 (DOCK11) have been recently identified to cause variable immunodeficiency and immune dysregulation. Features of immune dysregulation…
View article: De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies Open
View article: Shwachman–Diamond syndrome due to biallelic <scp> <i>EFL1</i> </scp> variants with complex and fatal clinical course in early infancy
Shwachman–Diamond syndrome due to biallelic <span> <i>EFL1</i> </span> variants with complex and fatal clinical course in early infancy Open
Summary Shwachman–Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.…
View article: Novel insight into alveolar capillary dysplasia from multi-omics and 3D imaging
Novel insight into alveolar capillary dysplasia from multi-omics and 3D imaging Open
View article: JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review
JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review Open
Objective The signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) syndrome (STAT3-GOF) is an inborn error of immunity (IEI) characterized by diverse manifestations of immune dysregulation that necessitate syst…
View article: Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations Open
Background Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defect…
View article: Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies
Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies Open
Tapasin deficiency is a very rare inborn error of immunity, the pathomechanism and clinical spectrum of which overlaps with TAP deficiencies.
View article: Three-dimensional Analysis of the Microvasculature in Alveolar Capillary Dysplasia
Three-dimensional Analysis of the Microvasculature in Alveolar Capillary Dysplasia Open
View article: Current genetic diagnostics in inborn errors of immunity
Current genetic diagnostics in inborn errors of immunity Open
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI…
View article: SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Open
View article: Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing
Rapid identification of primary atopic disorders (PAD) by a clinical landmarkguided, upfront use of genomic sequencing Open
Primary atopic disorders (PAD) are monogenic disorders caused by pathogenic gene variants encoding proteins that are key for the maintenance of a healthy skin barrier and a well-functioning immune system. Physicians face the challenge to f…
View article: Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities Open
Our findings support the role of loss-of-function variants in CACHD1 as the cause of a rare neurodevelopmental syndrome with facial dysmorphism and multisystem abnormalities.
View article: Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia Open
View article: Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype Open
Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in establishe…
View article: Morphomolecular analysis of the capillary network in alveolar capillary dysplasia
Morphomolecular analysis of the capillary network in alveolar capillary dysplasia Open
Introduction: Alveolar capillary dysplasia (ACD) is a rare lung developmental disorder associated with fatal outcomes in newborns. Mutations in a transcription factor involved in the development of pulmonary capillaries, the forkhea…
View article: Variants in <i>FGF10</i> cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children
Variants in <i>FGF10</i> cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children Open
Introduction Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well‐established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo‐auriculo‐dent…
View article: Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”
Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Open
View article: Diagnostic genomic sequencing in critically ill children
Diagnostic genomic sequencing in critically ill children Open
Rare genetic diseases are a major cause of severe illnesses and deaths in new-borns and infants. Disease manifestation in critically ill children may be atypical or incomplete, making a monogenetic disease difficult to diagnose clinically.…
View article: Variants in FGF10 cause isolated neonatal lung developmental disorder
Variants in FGF10 cause isolated neonatal lung developmental disorder Open
Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital (LA…
View article: A holistic approach to maximise diagnostic output in trio exome sequencing
A holistic approach to maximise diagnostic output in trio exome sequencing Open
Introduction Rare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of …
View article: Morphomolecular Pathobiology of the Capillary Network in Alveolar Capillary Dysplasia
Morphomolecular Pathobiology of the Capillary Network in Alveolar Capillary Dysplasia Open
View article: Morpho-molekulare Pathobiologie des kapillären Netzwerks bei alveolärer kapillärer Dysplasie
Morpho-molekulare Pathobiologie des kapillären Netzwerks bei alveolärer kapillärer Dysplasie Open
Hintergrund Eine geringe Diffusionsbarriere ist essentiell für die Funktion des pulmonalen Gasaustausches. Sowohl bei der alveolären kapillären Dysplasie (ACD) als auch bei der nicht-spezifischen interstitiellen Pneumonie (NSIP) ist diese …
View article: A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
A mutational hotspot in <span><i>AMOTL1</i></span> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature Open
AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOT…
View article: Systematic genetic analysis of pediatric patients with autoinflammatory diseases
Systematic genetic analysis of pediatric patients with autoinflammatory diseases Open
Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic inflammation. Diagnosis of monogenic AID requires an accurate description of the pa…
View article: Primary Ciliary Dyskinesia Genotypes Vary Markedly Across 19 Countries and Identify Significant Genotype-Phenotype Correlations
Primary Ciliary Dyskinesia Genotypes Vary Markedly Across 19 Countries and Identify Significant Genotype-Phenotype Correlations Open
View article: CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis Open
Background: The diagnostic yield of next-generation sequencing (NGS) technologies in the diagnosis of monogenic inborn errors of immunity (IEI) remains limited, rarely exceeding 30%. Monoallelic pathogenic germline variants in cytotoxic T …
View article: Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases Open
Gain-of-function variants in the stimulator of interferon response cGAMP interactor 1 ( STING1 ) gene cause STING-Associated Vasculopathy with onset in Infancy (SAVI). Previously, only heterozygous and mostly de novo STING1 variants have b…
View article: GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss
GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss Open
Since next-generation sequencing (NGS) has become widely available, large gene panels containing up to several hundred genes can be sequenced cost-efficiently. However, the interpretation of the often large numbers of sequence variants det…
View article: Erratum zu: Warnzeichen für und moderne Diagnostik von angeborenen Störungen des Immunsystems
Erratum zu: Warnzeichen für und moderne Diagnostik von angeborenen Störungen des Immunsystems Open