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Results: 5

1.
Figure 4.

Figure 4. From: Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Deficient assembly and function of AP-3 complex. (A) Western blot analysis of fibroblast protein extracts showing decreased concentrations of AP-3 β, δ, and σ subunits. (B) Immunofluorescence analysis demonstrating deficiency of the δ subunit of the AP-3 complex in fibroblasts from patient no. 30 (right) compared with fibroblasts from a healthy control (left). (C) FACS analysis of fibroblasts stained for cell-surface expression of CD63 (LAMP3) revealed increased expression of CD63 on fibroblasts from patient no. 30 (red line) compared with control (green line). The mean fluorescence intensity (MFI) is indicated for the isotype control (gray), healthy donor, and patient no. 30.

Johannes Jung, et al. Blood. 2006 July 1;108(1):362-369.
2.
Figure 2.

Figure 2. From: Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Immunophenotypic analysis. (A) Absolute numbers of peripheral blood CD3-CD56+ NK cells in patient no. 30, as compared with healthy family donors. (B) For fluorescence-activated cell sorting (FACS) analysis of NKT cells, 100 000 events were recorded for each sample. NKT cells were detected as Vα24+Vβ11+CD3+ or 6b11+CD3+ cells. A marked reduction in the numbers of NKT cells was found in AP-3-deficient patients (no. 29 and no. 30) as compared with a homozygous healthy family donor (no. 32). (C) Absolute numbers of NKT cells in peripheral blood of AP-3-deficient patients as compared with healthy family donors (2-sided Student t test for unequal variances using logarithmic values, P < .002). (A, C) Horizontal bars indicate median values.

Johannes Jung, et al. Blood. 2006 July 1;108(1):362-369.
3.
Figure 3.

Figure 3. From: Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Molecular identification of AP3B1 mutation. (A) Genotypes of the marker D5S424 (76.2 Mb) and D5S1501 (78.5 Mb) of the affected homozygous individuals (no. 29 and no. 30) and the heterozygous parents of the affected individuals (nos. 19-22). (B) Genomic Long-Range PCR of the affected individual no. 30 (lane 2) and the homozygous healthy cousin as a control (lane 3). The PCR product of lane 2 displays a length of only approximately 3000 bp (base pair) in contrast to the expected length of 11 018 bp (lane 3), suggesting a genomic deletion of approximately 8000 bp. Lane 1, size marker. (C) Sequence analysis of the Long-Range (LR) PCR product of the affected individual no. 30, revealing a deletion of 8168 bp.

Johannes Jung, et al. Blood. 2006 July 1;108(1):362-369.
4.
Figure 1.

Figure 1. From: Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Pedigree and clinical manifestation. (A) Pedigree showing 2 affected individuals (no. 29 and no. 30). (B) Panoramic radiograph revealing aggressive periodontitis as clinical manifestation of congenital neutropenia in patient no. 30. Coronal carious decay is marked by asterisks; periradicular radiolucency around the apex of the second lower left premolar is indicated by small arrows. Bold arrows indicate generalized horizontal alveolar bone loss with vertical drop. Note the difference between expected alveolar bone level (continuous line) and actual alveolar bone margin (dotted line). (C) Transmission electron microscopy of the basal keratinocyte (K) and a melanocyte process (M) from a healthy individual (left) and from patient no. 30 (right). In a healthy individual, mature melanosomes (arrowheads) are translocated from melanocytes to keratinocytes. In AP-3 deficiency, keratinocytes contain large phagosomes of densely packed immature melanosomes (arrows).

Johannes Jung, et al. Blood. 2006 July 1;108(1):362-369.
5.
Figure 5.

Figure 5. From: Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Ultrastructural and functional analysis of neutrophil granulocytes. (A-B) Transmission electron microscopy (TEM) of representative native neutrophil granulocytes from a healthy individual (ND; A) and patient no. 30 (B). The neutrophils of the patient (B) contained higher amounts of granules, demonstrating high degrees of variability in size, shape, and electron density. Immature granules are indicated by arrows. (C-D) TEM of in vitro-differentiated neutrophil granulocytes on exposure to Pseudomonas bacteria. No difference is seen in phagolysosome formation and bacterial degradation in granulocytes from the healthy individual (C) compared with patient (no. 30; D). (E) Western blot analysis of peripheral blood neutrophils obtained from 2 healthy control individuals with and without prior G-CSF treatment and patient no. 30. Complete blots are shown in Figure S1. (F) Chemotaxis assay of peripheral blood neutrophils from 2 healthy control donors (ND 1 and ND 2) and patient no. 30. Cells either migrated toward medium without chemoattractant (negative control) or toward medium supplemented with 10-7 M fMLP. (G) Uptake of FITC-labeled K12 E coli by in vitro-differentiated neutrophils from 2 healthy control donors and patient no. 30. (H) Killing of lactose permease-deficient E coli in peripheral blood neutrophils from 2 control donors (ND 1 and ND 2) and patient no. 30.

Johannes Jung, et al. Blood. 2006 July 1;108(1):362-369.

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