Figure 1. Clinical, radiological, and immunological findings in two patients with GS2. (A) Pedigrees and results of RAB27A sequencing. Patients 1 and 2 carried compound-heterozygous combinations of one previously reported allele and one novel More about this image found in Clinical, radiological, and immunological findings in two patients with GS2...

Figure 2. RAB27A(Trp73Arg) did not restore peripheral melanosome distribution in RAB27A-deficient melanocytes. (A) Typical images of melan-ash cells transiently expressing EGFP alone (control; top panels), EGFP-tagged RAB27A(WT) (middle panels), More about this image found in RAB27A(Trp73Arg) did not restore peripheral melanosome distribution in RAB2...

Figure 3. RAB27A(Trp73Arg) was unable to bind to RAB effectors that function in melanocytes (MLPH) and CTLs (MUNC13-4). (A) Interactions of RAB27A (WT or Trp73Arg; indicated as W73R) with MLPH-SHD as assessed using yeast two-hybrid assays. More about this image found in RAB27A(Trp73Arg) was unable to bind to RAB effectors that function in melan...

Figure 4. Subcellular localization of melanosomes in RAΒ27A-deficient melanocytes transiently expressing RAΒ27A variants. (A) EGFP alone (control) or EGFP-tagged RAB27A (WT, Ser115Arg [indicated as S115R], and Ser106PhefsTer18 [indicated as More about this image found in Subcellular localization of melanosomes in RAΒ27A-deficient melanocytes tra...

Figure 5. RAB27A effector-binding activities of RAB27A(Ser115Arg) . (A) Interaction between T7-MUNC13-4 and FLAG-RAB27A(WT or Ser115Arg; indicated as S115R). (B) T7-MLPH and FLAG-RAB27A(WT or Ser115Arg). These protein interactions in COS-7 More about this image found in RAB27A effector-binding activities of RAB27A(Ser115Arg) . (A) Interaction...

Figure S1. NK and CD8 ⁺ T cell degranulation assays in patient 1 and family members. Representative flow cytometric plots from patient 1, a healthy control, and the patient’s parents. PBMCs were analyzed either at day 0 without prior cytokine More about this image found in NK and CD8 ⁺ T cell degranulation assays in patient 1 and fami...

Figure 1. Mechanistic pathways contributing to PADs. PADs result from heterogeneous molecular defects that converge on exaggerated type 2 immune responses and impaired immune regulation. (A–F) Shown are representative mechanisms including skin More about this image found in Mechanistic pathways contributing to PADs. PADs result from heterogeneous ...

Figure 1. Identification of compound-heterozygous variants in the WDR75 gene in an immunodeficient patient with syndromic features. (A–E) Pedigree indicating carrier status of WDR75 variants (A). Sanger sequencing from gDNA (B). Schematic More about this image found in Identification of compound-heterozygous variants in the WDR75...

Figure 2. WDR75 variants affect pre-rRNA processing. Quantification of pre-rRNA precursors identified by northern blot analysis of LCLs derived from the patient and a control. Indicated radiolabeled probes were used to detect pre-rRNA precursors More about this image found in WDR75 variants affect pre-rRNA processing. Quantification of pre-rRNA prec...

Figure 3. WDR75 variants are associated with increased p21 expression. (A–D) Expression of p53 and p21 protein from LCLs from controls and the patient untreated or treated with 5 nM Act D for 2, 4, 6, and 8 h (A). Representative image of n = 3 More about this image found in WDR75 variants are associated with increased p21 expression. (A–D) Express...

Figure 4. Altered pre-rRNA processing and increased p21 expression in U2OS cells with WDR75 inactivation and ectopic expression of WDR75 p.T46I. (A and B) Northern blot analysis of U2OS cells ectopically expressing a pWPI EV, WDR75 WT, or WDR75 More about this image found in Altered pre-rRNA processing and increased p21 expression in U2OS cells with...

Figure 1. HA20: Etiology, pathophysiology, and clinical phenotypes. Schematic presents a broad overview covering the genetic mechanism of HA20 (loss-of-function heterozygous variants in TNFAIP3), the immunology, and pathophysiology, including More about this image found in HA20: Etiology, pathophysiology, and clinical phenotypes. Schematic presen...

Figure 2. Diagnostic and therapeutic algorithm for HA20. Flowchart presents a proposed algorithm outlining our diagnostic and therapeutic approach for patients with suspected HA20. This includes symptoms prompting clinical suspicion (classical More about this image found in Diagnostic and therapeutic algorithm for HA20. Flowchart presents a propos...

Figure 1. Transcriptomic mapping confirms reduced gene expression in the LCR22A–D region and an increased corticomedullary ratio in 22q11DS thymus. (A) Schematic overview of chromosome 22 with the most common deletions in the 22q11.2 region. More about this image found in Transcriptomic mapping confirms reduced gene expression in the LCR22A–D reg...