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    Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
    (Springer/Plenum Publishers, 2023) Kasap, Nurhan; Kara, Altan; Celik, Velat; Eltan, Sevgi Bilgic; Haci, Idil Akay; Kose, Hulya; Aygun, Ayse
    PurposeAutosomal recessive dedicator of cytokinesis 8 (DOCK8(-/-)) and autosomal dominant signal transducer and activator of transcription 3 (STAT3(-/+)) deficiencies are inborn errors of immunity (IEI) disorders present with the classic features of eczema and create a dilemma during differentiation from atopic dermatitis (AD). Therefore, an appropriate approach is required for eczema to diagnose DOCK8(-/-) and STAT3(-/+) early. Here, we described a set of clinical and immunological variables, including atypical AD localizations and lymphocyte subsets, to differentiate DOCK8(-/-) or STAT3(-/+) from AD.MethodsThis multicenter study involved 100 patients with DOCK8(-/-) and STAT3(-/+) and moderate/severe AD. We recruited disease manifestations, including detailed localizations of eczema, infections, and allergy. Principle component analysis (PCA) was used to discriminate DOCK8(-/-) or STAT3(-/+) from AD.ResultsThere were 43 patients with DOCK8(-/-), 23 with STAT3(-/+), and 34 with AD. Pneumonia, severe infections, mucocutaneous candidiasis, and skin abscesses were commonly observed in DOCK8 and STAT3 deficiencies. Atypical skin involvement with neonatal rash, retro auricular, axillary, sacral, and genital eczema discriminate DOCK8(-/-) and STAT3(-/+) from AD with high specificity ranges between 73.5 and 94.1% and positive predictive index ranges between 55 and 93.1%. Together with using absolute numbers of CD3(+), CD4(+), and CD8(+) T cells, the combined clinical and laboratory features showed perfect differentiation between DOCK8(-/-) or STAT3(-/+) and AD via PCA.ConclusionsThe described features can be easily implemented by physicians providing early diagnosis of DOCK8 and STAT3 deficiencies.
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    Characterization of Th17 and Treg cells in leucocyte adhesion deficiency 1 patients
    (Wiley, 2021) Erdem, Serife; Haliloglu, Yesim; Haskaloglu, Sule; Arik, Elif; Keskin, Ozlem; Karadag, Sefika Ilknur Kokcu; Eltan, Sevgi Bilgic
    [Abstract Not Availabe]
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    Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency
    (Wiley, 2022) Catak, Mehmet C.; Akcam, Bengu; Eltan, Sevgi Bilgic; Babayeva, Royala; Karakus, Ibrahim S.; Akgun, Gamze; Baser, Dilek
    Background Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency and cytotoxic T-lymphocyte protein-4 (CTLA-4) insufficiency are recently described disorders that present with susceptibility to infections, autoimmunity, and lymphoproliferation. Clinical and immunological comparisons of the diseases with long-term follow-up have not been previously reported. We sought to compare the clinical and laboratory manifestations of both diseases and investigate the role of flow cytometry in predicting the genetic defect in patients with LRBA deficiency and CTLA-4 insufficiency. Methods Patients were evaluated clinically with laboratory assessments for lymphocyte subsets, T follicular helper cells (T-FH), LRBA expression, and expression of CD25, FOXP3, and CTLA4 in regulatory T cells (Tregs) at baseline and 16 h post-stimulation. Results LRBA-deficient patients (n = 29) showed significantly early age of symptom onset, higher rates of pneumonia, autoimmunity, chronic diarrhea, and failure to thrive compared to CTLA-4 insufficiency (n = 12). In total, 29 patients received abatacept with favorable responses and the overall survival probability was not different between transplanted versus non-transplanted patients in LRBA deficiency. Meanwhile, higher probability of survival was observed in CTLA-4-insufficient patients (p = 0.04). The T-cell subsets showed more deviation to memory cells in CTLA-4-insufficiency, accompanied by low percentages of Treg and dysregulated cT(FH) cells response in both diseases. Cumulative numbers of autoimmunities positively correlated with cT(FH) frequencies. Baseline CTLA-4 expression was significantly diminished in LRBA deficiency and CTLA-4 insufficiency, but significant induction in CTLA-4 was observed after short-term T-cell stimulation in LRBA deficiency and controls, while this elevation was less in CTLA-4 insufficiency, allowing to differentiate this disease from LRBA deficiency with high sensitivity (87.5%) and specificity (90%). Conclusion This cohort provided detailed clinical and laboratory comparisons for LRBA deficiency and CTLA-4 insufficiency. The flow cytometric approach is useful in predicting the defective gene; thus, targeted sequencing can be conducted to provide rapid diagnosis and treatment for these diseases impacting the CTLA-4 pathway.
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    Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1
    (Academic Press Inc Elsevier Science, 2023) Erdem, Serife; Haskologlu, Sule; Haliloglu, Yesim; Celikzencir, Huriye; Arik, Elif; Keskin, Ozlem; Eltan, Sevgi Bilgic
    In 15 Turkish LAD-1 patients and controls, we assessed the impact of pathogenic ITGB2 mutations on Th17/Treg differentiation and functions, and innate lymphoid cell (ILC) subsets. The percentage of peripheral blood Treg cells, in vitro-generated induced Tregs differentiated from naive CD4+ T cells were decreased despite the elevated absolute counts of CD4+ cells in LAD-1 patients. Serum IL-23 levels were elevated in LAD-1 patients. Post-curdlan stimulation, LAD-1 patient-derived PBMCs produced more IL-17A. Additionally, the percentages of CD18-deficient Th17 cells expanded from total or naive CD4+ T cells were higher. The blood ILC3 subset was significantly elevated in LAD-1. Finally, LAD-1 PBMCs showed defects in trans-well migration and proliferation and were more resistant to apoptosis. Defects in de novo generation of Tregs from CD18-deficient naive T cells and elevated Th17s, and ILC3s in LAD1 patients' peripheral blood suggest a type 3-skewed immunity and may contribute to LAD-1-associated autoimmune symptoms.