Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “BAL”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 127 records · Page 7Linked to original sources
PubMed1991

Comparison of Papanicolaou's stain with the Gomori methenamine silver (GMS) stain for the cytodiagnosis of Pneumocystis carinii in bronchoalveolar lavage (BAL) fluid.

The cytodiagnosis of Pneumocystis carinii (PC) in bronchoalveolar lavage (BAL) fluids has traditionally required a special stain such as Gomori's methenamine silver (GMS) stain. Recent reports indicate that identification of foamy alveolar casts (FACs) with Papanicolaou's (Pap) stain may provide a sensitive and less complicated way of making the diagnosis. To confirm these observations, results on a series of 318 BALs were reviewed. PC was identified on 65 (20%) specimens from 54 patients. Pap stains and GMS stains were positive on 56 (86%) of these BALs. Pap stains were positive on seven (11%) specimens that had negative GMS stains. PC was later confirmed on these specimens by other methods. Only two (3%) BALs had positive GMS stains and negative Pap stains. The results of this study confirm other reports that show that PC can be sensitively diagnosed with the Pap stain. The authors suggest that routine special stains for PC are unnecessary on BALs.

Bronchoalveolar Lavage Fluid↗
PubMed1997

Proteins and phospholipids in BAL from patients with hydrostatic pulmonary edema.

The purpose of the present study is twofold: to evaluate alterations in total phospholipid content and individual phospholipid classes of the surfactant, and to detect markers of inflammatory reaction in bronchoalveolar lavage (BAL) from patients with hydrostatic pulmonary edema (HPE). Mechanically ventilated patients with HPE (Group 1) were compared with mechanically ventilated patients without cardiopulmonary disease (Group 2), considered as the control group. Group 3, including patients with high-permeability pulmonary edema, was used for further comparison. BAL was obtained and immediately cooled at 4 degrees C. Total proteins, albumin, and platelet-activating factor--acetylhydrolase (PAF-AcH) were measured. Total lipids were extracted and analyzed after thin-layer chromatographic separation. PAF was determined with bioassay. Total BAL proteins and albumin were found significantly higher in patients with HPE compared with control, but were lower compared with adult respiratory distress syndrome (ARDS). PAF was elevated in patients with HPE and ARDS, whereas in the control group it was actually in nondetectable levels. PAF was significantly higher in ARDS than in HPE patients. BAL neutrophils concentration was higher in HPE compared with control, but lower compared with ARDS. There was an inverse correlation between PAF-AcH and PAF. Quantitative reduction of total BAL phospholipids (PL) and qualititative deficiency was observed in both patients with HPE and ARDS. The findings of this study suggest that there is evidence of inflammation in the airspaces of patients with HPE.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed1999

AIDS-related Pneumocystis carinii pneumonia in the era of adjunctive steroids: implication of BAL neutrophilia.

Factors predictive of mortality in patients with AIDS and Pneumocystis carinii pneumonia (PCP) were identified before the introduction of adjunctive steroids, but they have not been reevaluated since. Because PCP still occurs in AIDS, remaining fatal in some cases, we conducted a multivariate analysis of factors predicting mortality in patients with HIV-positive PCP managed from 1990 to 1995, i.e., after the consensus conference on the use of adjunctive steroids. The predictive value of clinical, laboratory, and bronchoalveolar lavage (BAL) data at admission and during the course of PCP was studied retrospectively using multivariate methods, in 144 patients with AIDS. Overall mortality was 21.5%. The univariate analysis identified seven factors predictive of 90-d mortality: Pa(O(2)) on room air < 60 mm Hg, lactate dehydrogenase > 1,000 IU, albuminemia < 30 g/L, BAL neutrophilia > 10%, nosocomial infection, pneumothorax, and a need for mechanical ventilation. Four of these factors were independently associated with 90-d mortality in the multivariate analysis; among them, two were evaluable at admission, namely, Pa(O(2)) < 60 mm Hg on room air and BAL neutrophilia > 10%, and two during hospitalization, namely, the development of pneumothorax and a need for mechanical ventilation. Moreover, BAL neutrophilia was correlated to occurrence of pneumothorax and a need for mechanical ventilation. In the era of adjunctive steroid use, AIDS-related PCP remains fairly common. Two independent factors evaluable at admission, Pa(O(2)) on room air and BAL neutrophilia, are predictive of death.

AIDS-Related Opportunistic Infections↗
PubMed1997

The CD4/CD8 ratio in BAL fluid is highly variable in sarcoidosis.

Patients with pulmonary sarcoidosis frequently have increased numbers of lymphocytes and a high ratio of CD4+ to CD8+ T-lymphocytes (CD4/CD8 ratio) in bronchoalveolar lavage (BAL) fluid. Some investigators have suggested that these parameters can be used to distinguish sarcoidosis from other types of interstitial lung disease with a high degree of reliability. However, we hypothesized that the BAL CD4/CD8 ratio measured during the initial diagnostic evaluation of patients with biopsy-proven sarcoidosis is highly variable. BAL lymphocytes were analysed via flow cytometry to determine the CD4/CD8 ratio in a population of 86 patients with histological and clinical evidence of sarcoidosis, who underwent BAL as part of their initial diagnostic evaluation. In these patients, the CD4/CD8 ratio ranged 0.5-37.3, with a median value of 3.35 (mean 6.49). The CD4/CD8 ratio was greater than 4 in only 36 (42%) subjects. Ten patients (12%) had a CD4/CD8 ratio less than 1. The distribution of CD4/CD8 ratios was similar in the presence or absence of BAL lymphocytosis. In conclusion, the CD4/CD8 ratio in bronchoalveolar lavage fluid is highly variable in biopsy-proven sarcoidosis. Bronchoalveolar lavage lymphocyte subset determination is a diagnostic test with low sensitivity for this disease.

Adolescent↗
PubMed1992

Hyaluronic acid (hyaluronan) in BAL fluid distinguishes farmers with allergic alveolitis from farmers with asymptomatic alveolitis.

Pulmonary function measurements, bronchoalveolar lavage (BAL), and analyses of precipitating antibodies in blood were performed in 12 farmers wtih no symptoms from the airways and 12 farmers who were admitted to the hospital due to acute symptoms of alveolitis (all nonsmokers). In addition, a bronchial methacholine provocation test was performed in the asymptomatic farmers. In 11 of the 12 symptomatic farmers but in none of the asymptomatic farmers, precipitating antibodies against one or more of the microorganisms which usually occur in a farmer's environment were found. In the farmers with symptomatic alveolitis, a restrictive impairment of pulmonary function was found, while pulmonary function was normal in all asymptomatic farmers. Findings in the BAL fluid showed increased concentrations of total cells, lymphocytes, and neutrophils and elevated levels of albumin, fibronectin, and angiotensin-converting enzyme in asymptomatic farmers compared with our own reference group. The same analyses in BAL fluid from the symptomatic farmers revealed a further increase in all parameters compared with the asymptomatic farmers. The BAL fluid from asymptomatic farmers had normal levels of hyaluronic acid (hyaluronan) and procollagen 3 N-terminal peptide, while these levels were significantly increased in the symptomatic group. We conclude that inflammation in the alveolar space and signs of activation of alveolar macrophages are present in farmers regardless of respiratory symptoms, although these findings are more pronounced in the presence of symptoms of acute alveolitis; however, the findings of impaired pulmonary function and the occurrence of precipitins and elevated levels of hyaluronic acid and procollagen 3 N-terminal peptide in BAL fluid were exclusively found in the farmers with airways symptoms. We postulate the hyaluronic acid, due to its pronounced ability to immobilize water, may be of importance in the development of the pulmonary function impairment observed in farmer's lung disease.

Acute Disease↗
PubMed1995

Increased soluble CD14 levels in BAL fluid in pulmonary tuberculosis.

INTRODUCTION: CD14 is a cell surface glycoprotein expressed mainly on mature monocytes and macrophages. Soluble CD14 (sCD14) is present in normal plasma and is found increased in serum of patients with septicemia, polytrauma, and sarcoidosis. In active sarcoidosis, increased levels of sCD14 in BAL supernatant have been demonstrated. STUDY OBJECTIVE: To investigate sCD14 levels in BAL of pulmonary tuberculosis (PTB), another inflammatory disease characterized by granuloma formation. METHODS: BAL was performed in 12 patients with active but untreated PTB and 12 healthy persons. Cytologic and immunocytologic characteristics were determined. sCD14 was measured by a sandwich enzyme-linked immunosorbent assay. RESULTS: The level of sCD14 in patients with PTB was increased compared with controls (mean +/- SEM: 34.4 +/- 9.6 ng/mL vs 11.5 +/- 2.2 ng/mL; p = 0.02). No correlation was found between sCD14 levels and BAL cell differentials or lymphocyte surface markers. CONCLUSION: Similar to sarcoidosis, increased levels of sCD14 are found in BAL supernatant of PTB patients.

Adult↗
PubMed2002

Additional proteins in BAL fluid of Metsovites environmentally exposed to asbestos: more evidence of "protection" against neoplasia?

INTRODUCTION: Inhabitants of Metsovo in northwest Greece have been exposed to asbestos from use of a tremolite-containing whitewash ("luto" soil). As a result, they have increased incidence of malignant pleural mesothelioma and pleural calcifications (PCs). However, subjects with calcifications have a much lower incidence of mesothelioma than those without. A previous study of the two groups with BAL revealed higher proportional lymphocytosis among subjects with calcifications. We suggested that BAL lymphocytosis may be somehow correlated with "protection" against neoplasia. METHODS: The present report is a study of the liquid phase of BAL in the two groups. BAL specimens of 43 Metsovites (13 subjects with PCs and 30 subjects without PCs) and two control groups were examined. We measured total protein, albumin, IgG, IgA, and interleukin-6. Proteins were analyzed with sodium dodecyl sulfate-polyacrylamide gel electrophoresis and two-dimensional electrophoresis and further characterized using an appropriate computer program. RESULTS: The most interesting finding was the presence of two additional protein spots corresponding to the electrophoretic site of Ig heavy chain and C(4) component of complement. The two proteins were present in all Metsovites with PCs but in none without PCs and also in none of the control groups. CONCLUSION: This study further separates two groups of Metsovites with different reaction to asbestos, possibly as a result of different activation of alveolar macrophages. This difference leads the first group to the formation of PCs, BAL fluid lymphocytosis, and relative "protection" against malignancy, and the second group to no calcifications, no lymphocytosis, but also no protection against malignancy.

Adult↗
PubMed2002

Reduced interleukin-18 levels in BAL specimens from patients with asthma compared to patients with sarcoidosis and healthy control subjects.

STUDY OBJECTIVES: To investigate whether differing airway interleukin (IL)-18 levels may be implicated in the pathogenesis of asthma and sarcoidosis. SETTING: University teaching hospital. PATIENTS AND METHODS: IL-18 levels were measured in BAL fluid and in the supernatant of lipopolysaccharide (LPS)-stimulated alveolar macrophages obtained by BAL from 15 patients with sarcoidosis, 11 patients with asthma, and 13 healthy subjects. We also examined the relationship between IL-18 levels and macrophage and lymphocyte concentrations in BAL fluid. IL-18 was measured using an in-house enzyme-linked immunosorbent assay. RESULTS: IL-18 levels were significantly lower in BAL fluid from patients with asthma (median, 0.0 pg/mL; interquartile range, 0.0 to 0.0 pg/mL) compared to patients with sarcoidosis (median, 222.0 pg/10(6); interquartile range, 110 to 340 pg/mL; p = 0.009, Mann Whitney rank-sum test) and healthy control subjects (median, 162 pg/mL; interquartile range, 38 to 203 pg/mL; p = 0.025, Mann Whitney rank-sum test). Individual analyses comparing IL-18 levels with BAL macrophage counts, and IL-18 with lymphocyte counts in the three groups showed no correlation between these indexes. The mean levels of IL-18 in unstimulated macrophage supernatants were 410 pg/10(6) cells for patients with asthma, 723.4 pg/10(6) cells for patients with sarcoidosis, and 734.8 pg/10(6) cells for healthy control subjects (p > 0.05). Stimulated macrophages from patients with sarcoidosis responded with increasing amounts of IL-18 at lower doses of LPS than macrophages from healthy control subjects or patients with asthma. CONCLUSION: Our findings suggest that inherently low levels of IL-18 may be associated with the pathogenesis of asthmatic airway inflammation.

Adult↗
PubMed1999

[BAL from two different lung segments indicated by high resolution computed tomography (HRCT) in patients with sarcoidosis. II. The role of T gamma delta lymphocytes (T gamma delta)].

The aim of the study was to evaluate the role of lymphocytes T gd in sarcoidosis by estimation of T gd cells in double BAL (2 x 120 ml) from two different lung segments: with the most (s.A) and with the least (s.B.) extensive involvement evaluated by high resolution computed tomography (HRCT) and in peripheral blood. Examined group consisted of 28 sarcoid patients with homogeneous, regular distribution of nodular opacities in conventional chest X-ray (14 F, 14 M aged 19-54). Twelve patients showed homogeneous distribution of HRCT changes (RD) in lung parenchyma and 16 showed nonhomogeneous distribution of HRCT changes (ND) with domination of pathological changes in upper lobes. Eleven healthy volunteers served as controls. Lymphocytes T gd were estimated by flow-cytometry. In peripheral blood of patients with sarcoidosis the mean value of T gd lymphocytes (4.75%) did not differ from control group (5.3%). In all patients the mean values of T gd percentage in BAL from s.A (1.7 + 1.0%) and in BAL from s.B (2.1 + 1.5%) were significantly lower (p < 0.01) than the mean value in peripheral blood (4.75 + 2.4%) and were significantly lower than mean value of T gd cells in BAL from s.B bis (4.2 + 2.7%). Among subgroups ND and RD we did find any significant differences between values of T gd in BAL form s.A and s.B. Our results suggest minimal role of T gd lymphocytes in sarcoid pathogenesis.

Adult↗
PubMed2000

[Principles of optimal preparation of material from bronchoalveolar lavage (BAL)for cytoimmunologic examinations in interstitial lung diseases ].

In this paper we considered the value of correctly performed bronchoalveolar lavage (BAL) in diagnosis of interstitial lung diseases and in assessment of the activity of pathological process. We indicated the conditions of exact interpretation of the results of BAL cytoimmunological examination, i.e. fine standard handling of BAL material, including its collection, elaboration and choice of lavage site, as well as regarding external (e.g. cigarette smoking) and internal additional factors. We described the influence of BAL fluid recovery and of the method of staining on obtained results. We emphasized routinely performed BAL to be the valuable diagnostic and research tool in pulmonology however, the method may have limited usefulness and unnecessarily burden the patient, if technical guidelines are not observed.

Bronchoalveolar Lavage↗
PubMed1990

In vivo evaluation of bronchoalveolar lavage (BAL) fluid in atopic bronchial asthma, chronic bronchitis and sarcoidosis patients.

The intensity of inflammatory response was evaluated in skin test on guinea pig using bronchoalveolar lavage (BAL) fluid obtained from patients with some diseases of the respiratory tract. The results of skin test were verified with activities of proteases in BAL fluid. The study was performed on 24 patients with atopic bronchial asthma, 21 with chronic bronchitis, 13 with sarcoidosis (II phase) and 18 control subjects. All patients were undergoing fiberoptic bronchoscopies and BAL fluid was obtained. The results of skin test on guinea pig using BAL fluid were correlated with the activities of acid and neutral proteases. The highest activity of proteases and intensity of skin reactions were noted in patients with atopic bronchial asthma and sarcoidosis. Authors suggest that the skin test on guinea pig with BAL fluid may be useful tool for total evaluation of inflammatory response in patients with atopic bronchial asthma, chronic bronchitis and sarcoidosis.

Adult↗
PubMed1989

[IgE-Fc receptor expressions on bronchoalveolar lavage (BAL) cells in a patient with eosinophilic pneumonia accompanied with bronchial asthma--the effect of ketotifen on their expression].

In this study, IgE-Fc receptor expressions on each type of BAL cells (lymphocytes, macrophages and eosinophils) in a patients with eosinophilic pneumonia accompanied by bronchial asthma were examined by indirect immunofluorescent method using monoclonal antibody (H107). BAL cell findings showed marked increases of total BAL cell counts and eosinophils, an increased number of lymphocytes and the presence of basophilic cells. These results match those of our previous report. Furthermore, IgE-Fc receptor expressions on lymphocytes, macrophages and eosinophils were markedly increased as compared to those in the peripheral blood and normal control subjects. These findings suggest that IgE production in the lung plays the main role in the pathogenesis of eosinophilic pneumonia and bronchial asthma. On the other hand, during ketotifen administration, decreases of peripheral blood eosinophilia, of eosinophilia in the sputum and of serum IgE level and an improvement in chest X-ray findings were observed. Furthermore not only normalization of total BAL cell counts but also decreases of IgE-Fc receptor expressions on BAL cells were observed.

Adult↗
PubMed1988

[Bronchoalveolar lavage (BAL)--a diagnostic method in chronic nonspecific bronchopulmonary diseases in childhood. 1. Implementation and tolerance].

While the effectiveness of bronchoalveolar lavage (BAL) in pediatric therapy has been recognized for years, there are hardly any data on its usefulness in diagnosis, its performance and compatibility in childhood. After 123 bronchological investigations including BAL on 118 children in the age of three months through 16 years, with lavage fluid amounts between 40 and 160 ml, febrile reactions occurred in 17 cases (= 13.8%), i.e. no more frequent than in a group of 100 children bronchologically investigated but without BAL. After blood gas analyses, ECG examinations, blood pressure readings the compatibility of BAL turned out to be good in children of every age. Bronchography pictures after BAL were not reduced in quality, atelectasis formation occurred rarely.

Adolescent↗
PubMed1998

Soluble intercellular adhesion molecule 1 (sICAM-1) in bronchoalveolar lavage (BAL) cell cultures and in the circulation of patients with tuberculosis, hypersensitivity pneumonitis and sarcoidosis.

Intercellular adhesion molecule-1 (ICAM-1) plays an important role in inflammatory diseases. It is believed that its soluble form (sICAM-1) might be a serum parameter of inflammatory activity with possible relevance in granulomatous disorders. To evaluate this role we measured sICAM-1 by ELISA in serum and shedding of this molecule by BAL cells in patients with granulomatous lung diseases (pulmonary tuberculosis (TB), hypersensitivity pneumonitis (HSP), pulmonary sarcoidosis (PS), and controls). Serum concentrations of sICAM-1 in patients with TB (496.9 +/- 49.7 ng/ml), with HSP (636.5 +/- 85.9.8 ng/ml), and with PS (588.3 +/- 72.2 ng/ml) were significantly increased compared to controls (275.7 +/- 33.1 ng/ml). Spontaneous release of sICAM-1 by BAL cells differed among patient groups (TB: 9.3 +/- 1.7; HSP: 17.5 +/- 1.4; PS: 9.7 +/- 1.5 ng/ml), however, exceeding that of controls significantly (3.8 +/- 0.6 ng/ml). No correlations between the circulating level and the shedding of this molecule by BAL cells were observed within the groups. Significant correlations between serum sICAM-1 and serum tumor necrosis factor alpha (TNFalpha) level were observed in patients with HSP and TB. Kinetic cell culture experiments with BAL cells revealed a dissociation in sICAM-1 shedding and TNFalpha release. After stimulation rapid upregulation of both molecules (5 h) was followed by a cessation of TNFalpha production at 28 h. sICAM-1 shedding, however, was maintained over 2 days. Our results evidence that the circulating pool of sICAM-1, as well as the shedding of this molecule by BAL cells reflect the activity of cells in the inflammatory processes of granulomatous diseases.

Adult↗
PubMed1988

Stimulation of bronchoalveolar lavage (BAL) and blood lymphocytes by Kveim antigen, tuberculin and concanavalin A in sarcoidosis.

BAL and blood mononuclear cells and their reactivity to Kveim antigen, tuberculin and concanavalin A (Con A) were studied in nine patients with different clinical stages of sarcoidosis. After separation by plastic adherence, non-adherent cells (mainly lymphocytes) were admixed with 10% autologous adherent cells (monocytes/macrophages). After 3 and 6 days' culture with Kveim antigen (1, 10, 100 micrograms/ml), PPD tuberculin (2.5 micrograms/ml) and Con A (10, 20, 40 micrograms/ml) stimulation was measured as incorporation of 14C-thymidine into DNA. Except for occasional reactions the study did not show any unitary significant increase in lymphocyte response to the different concentrations of Kveim antigen in either BAL or blood. For Con A there was a weaker response by BAL-mononuclear cells with no difference between 3 and 6 days, compared with blood where there was an early peak. The lymphocyte reaction to PPD was weak with no difference between blood and BAL.

Adult↗
PubMed2003

Evaluation of a rapid bacterial ATP assay for screening BAL samples from ICU patients submitted for quantitative bacterial cultures.

A novel application of a rapid diagnostic technique for the detection of significant bacterial pathogens (>/=10(4) cfu/mL) in bronchoalveolar lavage (BAL) samples from critically ill ventilated patients is described. This rapid diagnostic assay (UTIscreen, Coral Biotechnology, San Diego, CA) utilizes a luciferin-luciferase reaction to detect bacterial adenosine triphosphate (ATP) and is currently commercially available for screening bacteriuria in urine specimens. One hundred and twenty-eight BAL samples were examined microscopically with Gram's stain and tested in parallel using the bacterial ATP assay and standard quantitative culture. The sensitivity (Sn), specificity (Sp), positive predictive value (PPV), and negative predictive value (NPV) for the detection of bacteria >/=10(4) cfu/ml in BAL specimens for the bacterial ATP assay was 87%, 59%, 39%, and 94%, and for the Gram's stain was 73%, 65%, 39%, and 89%, respectively. The diagnostic utility was improved by combining the results of Gram's stain/bacterial ATP assay results with Sn, Sp, PPV, and NPV of 97%, 38%, 32%, and 97% respectively. A combined negative rapid test consisting of Gram's stain/bacterial ATP assay rules out significant bacteria in BAL samples with a high degree of certainty. Future studies are needed to clinically validate these observations.

Adenosine Triphosphate↗
PubMed1999

Cytokine profiles of BAL T cells and T-cell clones obtained from human asthmatic airways after local allergen challenge.

BACKGROUND: This study assessed the heterogeneity of cytokine expression in asthma before and after local allergen challenge. METHODS: BAL T cells were obtained 10 min or 24 h after local endobronchial allergen challenge in atopic asthmatic subjects. T cells were cloned by direct limiting dilution. mRNA expression was assessed by RT-PCR, and cytokine protein production by ELISA. RESULTS: Unstimulated baseline BAL T cells expressed mRNA for IFN-gamma, IL-13, and TNF-alpha. A minority of samples expressed IL-4 and IL-5, but no IL-3 mRNA was detected. PHA stimulation increased expression of IL-3, IL-4, and IL-5 mRNA in 4/6 samples. IL-13 and GM-CSF mRNA were found in BAL cells after allergen challenge, but expression of IFN-gamma was reduced. Both IL-4 and IL-3 were strongly upregulated after PHA stimulation, while the expression of TNF-alpha and IFN-gamma was reduced, compared to equivalent baseline samples. Seventeen panels of BAL T-cell clones were derived (average cloning efficiency 1/40 T cells). Seven panels survived to 8 weeks for analysis. Clones derived 4 h after saline challenge showed strong mRNA signals for IL-13, IL-4, and IFN-gamma, whereas clones derived 24 h after allergen challenge expressed IL-13, GM-CSF, IL-3, IL-4, and often IL-5 (i.e., closer to the Th2 profile). There was considerable heterogeneity in the patterns of cytokine mRNA and protein production by different clones. CONCLUSIONS: T cells from asthmatic airways produce IL-13, IFN-gamma, and TNF-alpha, but after allergen challenge, type 2 cytokines are upregulated. mRNA and protein analysis provide complementary information on airways T-cell cytokine profiles.

Allergens↗
PubMed1997

Vesicle formation and follicular root sheath separation in mice homozygous for deleterious alleles at the balding (bal) locus.

The balding (bal) mutation of the mouse is an autosomal recessive mutation that causes alopecia and immunologic anomalies. A new allele was identified by allelism testing after using an interspecific backcross to localize the mutation to the centromeric end of mouse chromosome 18. We investigated the skin and hair histologic lesions of two alleles (bal(J) and bal(Pas)) at this locus and analyzed the expression of several keratinocyte markers and the production of autoantibodies by immunofluorescence on frozen skin sections. The lesions observed included separation of the inner and outer root sheath in anagen follicles resulting in the hair fiber being very easily plucked from the follicle. Vesicles on the ventral tongue, mucocutaneous junction of the eyelid, foot pads, and rarely in skin were also evident. Separation occurred between the basal and suprabasilar cells forming an empty cleft, resembling that observed in human pemphigus vulgaris. Immunofluorescence studies did not reveal the presence of tissue-bound or circulating autoantibodies. Expression of keratinocyte markers in hair follicles was normal. Keratin 6-positive cells were found on either side of the follicular separation suggesting a molecular defect in adhesion molecules between the inner layer of the outer root sheath cells to layers on either sides. This hypothesis has been confirmed by another group who demonstrated that the bal(J) mutation is due to the insertion of a thymidine in the desmoglein 3 gene, resulting in a premature stop codon.

Alleles↗