Simran Samra
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View article: Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease
Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease Open
OSMRβ (Oncostatin M receptor beta), a member of the IL-6 superfamily of cell surface receptors, binds OSM and IL-31 and plays a critical role in human immunity. We identified probands from four kindreds with biallelic damaging variants in …
View article: STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment
STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment Open
This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors' success in using therapeutics to manage …
View article: OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant
OTULIN Haploinsufficiency Caused by a Novel Splice Acceptor Variant Open
Inborn errors of immunity (IEIs) represent a diverse group of genetic disorders that compromise immune function, leading to susceptibility to infections and immune dysregulation. Biallelic and heterozygous loss-of-function variants in OTUL…
View article: X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing
X-MAID Disease Caused by a Novel Synonymous MSN Variant that Disrupts mRNA Splicing Open
Introduction Inborn errors of immunity (IEIs) are a group of genetic disorders in which parts of the human immune system are missing, dysfunctional, or poorly regulated. MSN encodes moesin, a cytoskeletal adaptor protein that plays a criti…
View article: Primary atopic disorders: inborn errors of immunity causing severe allergic disease
Primary atopic disorders: inborn errors of immunity causing severe allergic disease Open
Allergic diseases, including asthma, allergic rhinitis, atopic dermatitis, and food allergies, are driven by dysregulated immune responses, often involving IgE-mediated mast cell and basophil activation, Th2 inflammation, and epithelial dy…
View article: A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis
A multimorphic variant in ThPOK causes a novel human disease characterized by T cell abnormalities, immunodysregulation, allergy, and fibrosis Open
ThPOK is best known as a regulator of CD4+ T cell lineage commitment, although it was initially cloned as a suppressor of collagen expression in the skin. The role of ThPOK has not been formally established in humans since individuals with…
View article: Naturally occurring splice variants dissect the functional domains of <scp>BHC80</scp> and emphasize the need for <scp>RNA</scp> analysis
Naturally occurring splice variants dissect the functional domains of <span>BHC80</span> and emphasize the need for <span>RNA</span> analysis Open
Pathogenic PHF21A variation causes PHF21A ‐related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense varia…
View article: Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism Open
Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation and dysregulation o…
View article: Transcription factor defects in inborn errors of immunity with atopy
Transcription factor defects in inborn errors of immunity with atopy Open
Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs) with profound cli…
View article: Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism Open
Microtubule affinity regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mTOR pathway. Abnormal tau phosphorylation and dysregulation of the mTOR pathway are implicate…
View article: Generation of tandem alternative splice acceptor sites and <scp><i>CLTC</i></scp> haploinsufficiency: A cause of <scp><i>CLTC</i></scp>‐related disorder
Generation of tandem alternative splice acceptor sites and <span><i>CLTC</i></span> haploinsufficiency: A cause of <span><i>CLTC</i></span>‐related disorder Open
Tandem splice acceptors (NAGN n AG) are a common mechanism of alternative splicing, but variants that are likely to generate or to disrupt tandem splice sites have rarely been reported as disease causing. We identify a pathogenic intron 23…