Skin signs of primary immunodeficiencies: how to find the genes to check

Ettinger, Monika; Schreml, Julia; Wirsching, Kornelia; Berneburg, Mark; Schreml, Stephan

doi:10.1111/bjd.15870

Cited by 9 publications

(3 citation statements)

References 47 publications

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“…Also, very rare Epstein-Barr virus (EBV)-related smooth muscle tumours (SMT) have been reported, due to impaired antiviral immunity ( 8 , 13 ). Non-infectious, autoimmune or allergic manifestations are variably reported in patients with CID ( 1 ). In CARMIL2-deficiency, allergic and hypersensitivity disorders seem to be more prevalent than autoimmunity, due to depletion of Tregs and defective CD28 co-stimulation ( 6 ).…”

Section: Discussionmentioning

confidence: 99%

“…Combined immunodeficiency (CID) syndromes are rare conditions characterized by defective development and function of T-cell and B-cell immunity, determining an increased susceptibility to infections and a heterogeneous spectrum of muco-cutaneous manifestations ( 1 ). We report on a female patient presenting with a severe clinical phenotype of CID due to a novel, pathogenetic variant of the CARMIL2 gene.…”

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confidence: 99%

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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

Marangi¹,

Garcovich²,

Sante³

et al. 2020

Acta Derm Venerol

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Atopic dermatitis (AD) has a big impact on quality of life. The usefulness of health-related quality of life questionnaires for children with AD in general practice, and the relationship of quality of life to disease severity, as assessed by parents and by investigators, however, is not known. This study used the Infants' Dermatitis Quality of Life Index (IDQoL) to assess quality of life in children with AD selected from general practice. Severity of AD was determined by investigators and parents using the objective SCORAD (SCORing Atopic Dermatitis), the TIS (three-item severity scale), or by an additional question on the IDQoL. A total of 66 patients (41% boys, mean age 31 months) were included. Correlations between disease severity assessed by parents and by investigators were low (R^ 0.29-0.51). Correlations between IDQoL and severity assessed by investigators were also low (R0.08-0.36). However, correlations between IDQoL and severity according to parents were high (R^ 0.67-0.73). In conclusion, disease severity and disease-related quality of life are different aspects of AD and must be taken into consideration when evaluating treatment or investigating new dermatological therapies in trials.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers

Marangi¹,

Garcovich²,

Sante³

et al. 2020

Acta Derm Venerol

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“…Cutaneous involvements are an unappreciated aspect of clinical presentations in IEIs [19,20]. In the current report, we studied cutaneous changes in 521 monogenic patients with inborn errors of immunity from the Iranian registry.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune versus Non-autoimmune Cutaneous Features in Monogenic Patients with Inborn Errors of Immunity

Sharifinejad

Azizi

Rasouli

et al. 2023

Biology

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Cutaneous manifestations are one of the most common presentations among patients with inborn errors of immunity (IEI). These skin manifestations are often among the first presenting features in the majority of patients preceding the IEI diagnosis. We studied 521 available monogenic patients with IEI listed in the Iranian IEI registry up to November 2022. We extracted each patient’s demographic information, detailed clinical history of cutaneous manifestations, and immunologic evaluations. The patients were then categorized and compared based on their phenotypical classifications provided by the International Union of Immunological Societies. Most patients were categorized into syndromic combined immunodeficiency (25.1%), non-syndromic combined immunodeficiency (24.4%), predominantly antibody deficiency (20.7%), and diseases of immune dysregulation (20.5%). In total, 227 patients developed skin manifestations at a median (IQR) age of 2.0 (0.5–5.2) years; a total of 66 (40.7%) of these patients initially presented with these manifestations. Patients with cutaneous involvement were generally older at the time of diagnosis [5.0 (1.6–8.0) vs. 3.0 (1.0–7.0) years; p = 0.022]. Consanguinity was more common among patients who developed skin disorders (81.4% vs. 65.2%, p < 0.001). The overall skin infection rate and the type of dominant pathogens were significantly different among the IEI patients in different phenotypical classifications (p < 0.001). Atopic presentation, including urticaria, was highly prevalent among patients with congenital defects of phagocytes (p = 0.020). The frequency of eczema was also significantly higher among cases with both syndromic and non-syndromic combined immunodeficiency (p = 0.009). In contrast, autoimmune cutaneous manifestations, including alopecia and psoriasis, were most common in patients with immune dysregulation (p = 0.001) and defects in intrinsic or innate immunity (p = 0.031), respectively. The presence of autoimmune cutaneous complications significantly improved the survival rate of IEI patients (p = 0.21). In conclusion, cutaneous manifestations were observed in nearly 44% of Iranian patients with monogenic IEI. A considerable number of patients with cutaneous involvements developed these disorders as their first manifestation of the disease, which was particularly noticeable in patients with non-syndromic combined immunodeficiency and phagocytic defects. The neglected skin disorders in IEI patients might delay diagnosis, which is generally established within a 3-year interval from the development of skin-related problems. Cutaneous disorders, especially autoimmune features, might indicate a mild prognosis in IEI patients.

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