Figure 1. Plasma drug concentrations in the thalidomide group. Plasma drug concentrations following the initial administration of thalidomide were measured in two pediatric patients (T1 and T3) and one adult patient (T2) in the thalidomide More about this image found in Plasma drug concentrations in the thalidomide group. Plasma drug concentra...

Figure 2. PUCAI scores of patients in the blinded phase and the extension phase. (a and b) In the thalidomide group, the patients were treated with thalidomide in the blinded phase (a) and the extension phase (b). The final markers of each line More about this image found in PUCAI scores of patients in the blinded phase and the extension phase. (a a...

Figure 3. Improvement in colonoscopy findings after thalidomide administration. (a and b) In T3, who achieved remission at the end of the extension phase, lymphoid hyperplasia with red halos was prominent in the distal sigmoid colon before the More about this image found in Improvement in colonoscopy findings after thalidomide administration. (a an...

Figure 4. Study design. The patients were randomly assigned to a 12-wk treatment of thalidomide or placebo (blinded phase) followed by a 12-wk extension phase (thalidomide administration). The patients were visited at 4 wk after the treatment More about this image found in Study design. The patients were randomly assigned to a 12-wk treatment of ...

Figure 1. ADA2 variants are distributed throughout the entire gene. ADA2 gene (above) and protein (below). Exons 1–10 are depicted as bars, and introns as lines (not to scale). Variants in this cohort are colored in green, red, or blue, More about this image found in ADA2 variants are distributed throughout the entire gene. ADA2 gene (above...

Figure 2. DADA2 clinical phenotypes and laboratory immune phenotypes are heterogeneous. (A–E) Clinical phenotypes given as fraction of a total of n = 48 patients. The upper bar shows the fraction of patients showing any of the clinical More about this image found in DADA2 clinical phenotypes and laboratory immune phenotypes are heterogeneou...

Figure 3. DADA2 phenotypes follow distinct demographic, clinical, therapeutic, genetic, and biochemical correlations. Relation of clinical phenotype, age at disease onset, age, ex vivo ADA2 enzymatic activity, and allele activity in vitro. More about this image found in DADA2 phenotypes follow distinct demographic, clinical, therapeutic, geneti...

Figure 4. Residual ADA2 activity of patients and variants are distinct properties. Above: Patient ADA2 activity is measured in blood samples ex vivo. Values were reported by the respective centers, commonly in mU/g. Below: The ADA2 activity of a More about this image found in Residual ADA2 activity of patients and variants are distinct properties. A...

Figure 5. Classification algorithm for the correlation of patient and variant ADA2 activity. Allele classification according to Lee et al. ( 13 ) and correlation to patients’ (ex vivo) ADA2 enzymatic activity. The 16 final patients could be More about this image found in Classification algorithm for the correlation of patient and variant ADA2 ac...

Figure 1. Identification and structural characterization of the homozygous CTLA4 ^S172P/S172P variant associated with immune dysregulation. (A) Clinical timeline illustrating patient presentation, treatment interventions, and key laboratory More about this image found in Identification and structural characterization of the homozygous CT...

Figure 2. CTLA4 ^S172P/S172P variant disrupts CTLA-4 expression in CD4 ⁺ FOXP3 ⁺ Tregs. (A) Representative flow cytometry plot showing the frequency of CD4⁺FOXP3⁺ Tregs. (B) Bar graph depicting the percentages of CD4⁺FOXP3⁺ Tregs. (C) More about this image found in CTLA4 ^S172P/S172P variant di...

Figure 3. CTLA4 ^S172P/S172P variant severely impairs CD80 transendocytosis and drives CD4 ⁺ T cell hyperproliferation. (A) Schematic representation depicting the principle of the in vitro CD80 transendocytosis assay. (B) Representative More about this image found in CTLA4 ^S172P/S172P variant se...

Figure 4. CTLA4 ^S172P/S172P variant accelerates the lysosomal degradation of CTLA-4. (A) PBMCs were treated with 30 μg/ml CHX for up to 4 h at 37°C and stained for total CTLA-4. The graph shows total CTLA-4 expression relative to 0 h, More about this image found in CTLA4 ^S172P/S172P variant ac...

Figure 5. Abatacept restores T cell homeostasis disrupted by the CTLA4 ^S172P/S172P variant. (A) Representative flow cytometry plots of CXCR5⁺PD-1⁺ cT_FH cells comparing HCs, mother, and patient before and after abatacept treatment (12 mo). (B) More about this image found in Abatacept restores T cell homeostasis disrupted by the CTLA4...

Figure 6. Abatacept partially normalizes B cell phenotype and reduces activated cell subsets in the CTLA4 ^S172P/S172P patient. (A) Representative plots illustrate naïve B cells (IgD⁺CD27⁻), class-switched memory B cells (IgD⁻CD27⁺), and More about this image found in Abatacept partially normalizes B cell phenotype and reduces activated cell ...