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This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.

This article discusses the role of regulatory T cells in alopecia areata, where their deficiency in hair follicles may lead to impaired local immunity and suggests potential therapies like CAR-T reg cells and low-dose IL-2 to alleviate autoimmunity and promote hair regeneration in affected individuals.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This study found that blocking autophagy in Atg7-deficient mouse hair keratinocytes altered the molecular composition of hair shafts by increasing the abundance of proteins involved in protein turnover while keratins remained unchanged, highlighting autophagy's role in reducing non-cytoskeletal protein concentrations in hair.

In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.

This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.

This review highlights the role of matriptase in epithelial differentiation and cancer, noting that unregulated matriptase expression can enhance cancer progression in animal models, but reports no new experimental data.

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

Cathepsin L deficiency causes hair and skin issues in mice.

mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.

This study found that prostasin's proteolytic activity is necessary for normal hair follicle development in mice, but not for interfollicular epidermal development.

This review discusses the occurrence and impact of background histopathologic changes in nonhuman primate research, emphasizing the importance of understanding these factors to enhance study validity and interpretation.

This review discusses the mechanisms of skin-associated cell death and their potential role in treating inflammatory skin diseases, but presents no new clinical findings.

This study identified that mouse MILL1 and MILL2 are glycoproteins distinct from human MICA/B, primarily due to their association with β2-microglobulin and TAP-independent surface expression.

This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.

This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.

This study found that IL-7 is crucial for the survival of memory regulatory T cells in the skin of mice, whereas IL-2 is essential for their initial generation but not for their maintenance.

This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.

This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.

This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.

This review discusses the mechanisms underlying immune tolerance failure in alopecia areata and highlights potential therapeutic avenues for restoring hair growth and achieving sustained remission, but reports no new clinical results.

This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.

This study investigates whether lymphocytes from mice with secondary alopecia areata can effectively induce the disease in a C3H/HeH mouse model, similar to lymphocytes from mice with spontaneous disease.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.

This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.

This review summarizes recent advances in Treg cell biology, focusing on Foxp3's role in immune regulation and therapeutic reprogramming for immune dysregulatory disorders, but reports no new clinical results.