11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
32 citations
,
May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
November 2023 in “Medical Immunology (Russia)” In this study, researchers found that children with alopecia areata exhibited immune system imbalances, including increased autoimmune and allergic markers and decreased phagocytic activity, along with a higher prevalence of autoimmune thyroiditis and allergic rhinitis compared to children without alopecia.
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.
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.
1 citations
,
May 2023 in “Journal of neuroendocrinology” This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.
57 citations
,
March 2011 in “Pediatric Dermatology” In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.
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.
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.
May 1991 in “Current problems in dermatology” This article reviews the relationship between the skin and the immune system and discusses how skin manifestations can indicate immunodeficiencies but reports no new research findings.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
2 citations
,
January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2023 in “IP Indian journal of clinical and experimental dermatology” This article reviews the pathogenesis, complications, and management of lichen planus, especially its persistent oral form, and highlights the need for further prospective studies.
9 citations
,
October 2017 in “Archivos Argentinos de Pediatria” This review discusses the clinical features, diagnosis, and treatment of alopecia areata, while investigating potential genetic, environmental, and immunological factors involved in its etiology, but reports no new findings.
This study found a significant discordance between clinical symptoms and dermatoscopic signs with histopathological inflammation in patients with LPP and AFF, affecting diagnostic and therapeutic approaches.
47 citations
,
May 2020 in “Cardiovascular Research” This review explores how sex differences influence the pathophysiology, incidence, and treatment outcomes of ischaemic heart disease, and emphasizes the need for more sex-specific research.
41 citations
,
September 2007 in “Pediatric emergency care” This review discusses the challenges in diagnosing tinea capitis and highlights the need for laboratory confirmation and systemic treatment due to the limited effectiveness of topical antifungals; no new clinical results are presented.
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.
14 citations
,
April 2014 in “Medical Clinics of North America” This review discusses common skin conditions in primary care settings and provides guidance on differential diagnoses and selecting appropriate topical treatments, but it reports no new clinical results.
16 citations
,
January 2010 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses the role of skin manifestations as early markers and prognostic indicators of HIV infection in children but reports no new clinical results.
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.
17 citations
,
May 2003 in “Journal of The American Academy of Dermatology” This study found that miniaturized hair follicles from pattern alopecia can regenerate rapidly when transplanted onto mice and may grow as well as or better than terminal hairs.
4 citations
,
March 2020 in “Berkala Ilmu Kesehatan Kulit dan Kelamin” This case report noted that HIV-infected men who have sex with men are at a higher risk of syphilis, requiring careful staging and prolonged serologic monitoring to assess treatment success.
64 citations
,
August 1999 in “The American journal of medicine” This study found that while a transscrotal testosterone patch increases serum testosterone levels in hypogonadal men with AIDS and weight loss, it does not improve weight, body cell mass, or quality of life.
131 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that alopecia areata can be induced and serially transferred in C3H/HeJ mice using skin grafts, providing a useful model for studying the disease in humans.
7 citations
,
January 2015 in “Current problems in dermatology” This chapter reviews common drug-related and systemic disorder-induced alopecias, focusing on their epidemiology, causes, symptoms, diagnosis, and treatment, but reports no new findings.
35 citations
,
January 1993 in “International Journal of Dermatology” In this study, most hair disorders among HIV-1 positive patients were associated with low helper T cell counts, with papulosquamous conditions like seborrheic dermatitis and psoriasis being the most common.
6 citations
,
March 2020 in “Jornal de Pediatria” This study found that inflammatory dermatoses, especially atopic dermatitis, were the most common pediatric skin conditions at a Brazilian reference center, highlighting different patterns compared to adult skin disorders.
1 citations
,
December 2010 in “InnovAiT” This article reviews common causes of hair loss and hair excess and discusses their management in primary care settings, but it reports no new clinical results.