Additional diverse findings expand the clinical presentation of DOCK8 deficiency.

We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and recurrent respiratory or gastrointestinal tract infections. However, four patients presented with other features. Patient 1-1 featured sclerosing cholangitis and colitis; patient 2-1, granulomatous soft tissue lesion and central nervous system involvement, with primary central nervous system lymphoma found on follow-up; patient 3-1, a fatal metastatic leiomyosarcoma; and patient 4-2 showed no other symptoms initially besides atopic dermatitis. Similar to other previously reported Turkish patients, but in contrast to patients of non-Turkish ethnicity, the patients' lymphopenia was primarily restricted to CD4(+) T cells. Patients had homozygous mutations in DOCK8 that altered splicing, introduced premature terminations, destabilized protein, or involved large deletions within the gene. Genotyping of remaining family members showed that DOCK8 deficiency is a fully penetrant, autosomal recessive disease. In our patients, bone marrow transplantation resulted in rapid improvement followed by disappearance of viral skin lesions, including lesions resembling epidermodysplasia verruciformis, atopic dermatitis, and recurrent infections. Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment.

A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis.

Interleukin-12 receptor beta-1 (IL-12Rbeta1) defect is generally associated with selective susceptibility to weakly pathogenic mycobacteria and Salmonella species. Patients rarely experience infections caused by other organisms. We report a 5-year-old patient with IL-12Rbeta1 deficiency who developed recurrent visceral leishmaniasis 6 months apart. The patient responded to lyposomal amphotericin B treatment reasonably well.

The cellular inflammation of bronchial biopsies in chronic obstructive pulmonary diseases.

This study was designed to describe the cellular inflammation, thickness of basement membrane (BMT) and epithelial desquamation (ED) in bronchial biopsies from patients with chronic obstructive pulmonary disease (COPD) compared with asthma and healthy individuals. Thirteen subjects with COPD, 12 asthmatic subjects, and 10 healthy individuals enrolled in the study. Bronchial biopsies obtained by fiberoptic bronchoscopy were stained with hematoxylin and eosin to perform cell counts and descriptive analysis. Neutrophils were found in higher numbers in epithelium and lamina propria in subjects with COPD compared with asthma and control groups (p< 0.001, p< 0.05) whereas eosinophils were observed higher in epithelium and lamina propria in asthmatic subjects (p< 0.001, p< 0.001). There were no significant differences in numbers of neutrophils and eosinophils in submucosa in the three groups (p> 0.05). There were no significant correlations between the inflammatory cell counts and FEV1 or smoking history in either group (p> 0.05). In subjects with COPD only 6 (46.2%) of the subjects showed BMT whilst 2 (15.4%) of the subjects showed ED. In asthma group, 11 (91.7%) of the subjects presented increased BMT and ED. In healthy individuals 1 (10%) of the subjects had increased BMT and no one had ED. As a result, we may conclude that the predominant cells of bronchial mucosa in COPD are the neutrophils whereas they are eosinophils in asthma. Thickening of basement membrane and epithelial desquamation are the major features of asthmatics. However in COPD, these features would be focally present and variable.