Jasmin Mann
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View article: Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants
Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants Open
Genetic screening for severe congenital immunohematological diseases offers potential for early intervention, particularly through preemptive allogeneic hematopoietic stem cell transplantation (HSCT). However, the clinical value of such sc…
View article: The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin‐Deficient Mice
The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin‐Deficient Mice Open
Primary hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome caused by inborn errors of cytotoxicity. Patients with biallelic PRF1 null mutations (encoding perforin) usually develop excessive immune cel…
View article: Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7) Open
Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. …
View article: Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant Open
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GAT…
View article: Keratinocytes control skin immune homeostasis through de novo–synthesized glucocorticoids
Keratinocytes control skin immune homeostasis through de novo–synthesized glucocorticoids Open
Keratinocytes control tissue homeostasis and skin inflammation via immunosuppressive glucocorticoids.