Pyle Disease Latest Advances

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: March 20, 2025

Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.

Journal: Scandinavian journal of immunology

Published: February 24, 2025

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

Journal: Frontiers in immunology

Published: February 07, 2025

MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 19, 2025

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Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.

Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.

Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.

Immune cell subsets in autoimmune polyendocrine syndrome type I.

Immune cell subsets in autoimmune polyendocrine syndrome type I.

COL10A1-related metaphyseal dysplasia Schmid caused by the p.L644F variant in the COL10A1 gene.

COL10A1-related metaphyseal dysplasia Schmid caused by the p.L644F variant in the COL10A1 gene.

Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.

Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.

MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.