This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in immunodeficient mice lacking T cells, certain innate lymphoid cell subsets increased and influenced the hair growth cycle, with specific ILC subsets shown to promote anagen, the active phase of hair growth.
12 citations
,
July 2014 in “International Journal of STD & AIDS” This study found that dermatological manifestations in HIV-positive individuals, such as infectious and non-infectious dermatoses, were significantly associated with CD4 T cell count.
8 citations
,
August 1997 in “Australasian Journal of Dermatology” This review discusses the distinctive non-infective skin presentations of HIV infection from a dermatological perspective and reports no new clinical findings.
1 citations
,
July 2020 in “Qanun Medika - Medical Journal Faculty of Medicine Muhammadiyah Surabaya” This case report describes a patient with HIV who experienced overlapping symptoms of primary and secondary syphilis and showed clinical and serological improvement after treatment with benzathine penicillin and antiretroviral drugs.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
9 citations
,
November 2015 in “Plastic and reconstructive surgery/PSEF CD journals” This study found that human skin grafted onto certain immunodeficient mice resulted in proliferative scars with characteristics similar to human hypertrophic scars, suggesting these models may better represent the condition's natural history.
33 citations
,
September 2017 in “Journal of clinical immunology” 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.
17 citations
,
June 2017 in “Gene” 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.
November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
April 2019 in “Journal of Investigative Dermatology” This paper discusses two preclinical models for studying alopecia areata and finds that testing new therapeutic agents should involve both the C3H/HeJ mouse model and the humanized mouse model for comprehensive insights.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
April 2026 in “Laboratory Animal Research” This study developed a novel Hairless Rag2/Jak3 KO mouse model, which provides superior optical properties and thinner skin compared to existing models, enhancing its utility for noninvasive tumor monitoring and evaluation of anticancer therapies.
January 2019 in “Annals of Dermatology” This study observed that in Korean HIV patients, tinea infection, folliculitis, and seborrheic dermatitis were the most common skin diseases, with HAART medications generally reducing folliculitis incidence. Skin disease prevalence differed by immune status, affecting treatment needs.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
July 2024 in “Journal of Investigative Dermatology” OR101 may effectively treat atopic dermatitis and similar skin conditions.
139 citations
,
February 2010 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This review outlines the advancements in organ and tissue transplantation since the discovery of the human MHC and reports no new clinical results.
69 citations
,
January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
1 citations
,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, the researchers reported that using a biodegradable ECM scaffold for large-area wound regeneration accelerated wound coverage and improved hair follicle neogenesis by activating the adaptive immune system.
27 citations
,
September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
1 citations
,
October 2024 in “Journal of Clinical Immunology” This study observed that adult Netherton syndrome patients showed a range of normal to diminished immune responses to polysaccharide, conjugate, and mRNA-based vaccines, with responses generally overlapping those of healthy controls, suggesting no consistent B- or T-cell immunodeficiency in this population.
July 2023 in “Journal of allergy and clinical Immunology. Global” 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.
47 citations
,
June 2013 in “Biology of blood and marrow transplantation” This study presents a new mouse model for investigating chronic graft-versus-host disease, highlighting the role of human thymic tissue in developing multiorgan fibrosis driven by human immune cells.
103 citations
,
January 2011 in “Blood” This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.