|
379 ABSTRACTStowards Phytohaemoagglutinin- M. Finally, we evaluated total IgA/ G/M/E levels.
Innate immune system: using RT- PCR we monitored the gene expres-sion of 5- Lipoxygenase (5- LO), FLAP and Cysteinyl- leukotriene re-ceptor (Cys- LTR), mainly expressed on innate immune cells. Finally the functional activity of 5- LO was assessed using HPLC technique. Results : Adaptive immune system: we found an increase in total double negative T cells (DNT; CD4 - /CD8 - ); gamma delta DNT cells,
Tregs and NK cells. In contrast, CD4 and CD8 T cells were reduced. Interestingly, T cells had a basal activation and proliferation rate higher compared to the healthy control cells. The extent of the re-sponse towards PHA- M was also enhanced. No difference was ob-served in any of the Ig subclasses.
Innate immune system: No differences were observed in basophils, eosinophils and neutrophil count. However, in PMNL, the gene ex-pression of 5- LO, FLAP and CysLTR is increased as well as the 5- LO functional activity.
Conclusions : WD probably induces a constant activation state of both adaptive and innate immune system that results in a re- shaping of the adaptive immune system. Moreover, the increase of gamma delta DNT cells suggests a chronic stimulation at the mucosal level.
TP0623
| IgG4 related disease and ligneous
conjunctivitis in a girl: A coexistence or a
relationship?
Emiroglu M
1; Bozkurt B
2; Emiroglu HH
3
1 Selcuk University, Faculty of Medicine, Department of Pediatrics, Division
of Pediatric Infectious Diseases, Konya, Turkey ; 2 Selcuk University, Faculty
of Medicine, Department of Ophthalmology, Konya, Turkey ; 3 Selcuk
University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Konya, Turkey
Background : IgG4- related disease (IgG4- RD) is a systemic, fibro- inflammatory disease with various presentations. It can involve any organ; orbital and pancreatic diseases are the most. Ligneous con-junctivitis is a rare, chronic and recurrent concon-junctivitis characterized by fibrinous pseudomembranes on the palpebral conjunctiva, but also on the gingiva, trachea- bronchial tract and female genital tract. It is an autosomal recessive inherited disorder with mutations in the plasmi-nogen gene (6q26). Herein, we reported a girl with ligneous conjuncti-vitis who developed chronic pancreatitis due to IgG4- RD.
Method : A 7- year- old girl admitted with abdominal pain referring to the back. She was on follow- up for ligneous conjunctivitis for the last 2 years and had two pancreatitis attacks during last year. Her parents were second degree relatives and her plasminogen activity level was 17% (normal range 55- 145%). She had been treated with systemic and topical fresh frozen plasma, topical heparin, short term topical steroids and surgical excision was done 3 times before. Subepithelial eosinophilic amorphous material accumulation with in-creased number of lymphocytes and neutrophils were observed in the excised specimen.
Results : In laboratory examination, leukocytosis with neutrophil predominance, mildly elevated amylase (191U/L; increase to <2 times the upper limit of normal) and lipase (94U/L, increase to > 3 times the upper limit of normal) were detected. She experienced cholangitis, pneumobilia, hepatitis, duodenitis and interstitial lung disease. Heterozygous mutation on PRSS- 1 gene was detected for hereditary pancreatitis. Auto- antibodies were negative, but IgG4 was high (>150 mg/dL). She was diagnosed as a possible IgG4- RD according to diagnostic criteria and methylprednisolone and azathio-prine were started.
Conclusion : To our knowledge, only one adult patient had ligneous conjunctivitis due to proven IgG4- RD was reported before. The exact pathogenesis of the IgG4- RD is unknown. Accumulation of IgG4 positive plasma cells in tissues are hallmarks of the disease and CD4 + cytotoxic T lymphocytes have been shown to play a major role in formation of fibrosis. In ligneous conjunctivitis, due to plasmi-nogen deficiency, fibrin cannot break- down and abnormally accumu-late in the body. Further studies are needed to determine whether there is a real association between the two diseases or just a coexist-ence in two case reports.
TP0624
| Hereditary angioedema
Jacob S ; Barreira JL ; Vitor AB
Centro Hospitalar Universitário de São João, Porto, Portugal
Case report : Hereditary angioedema (HAE) is a rare disease charac-terized by recurrent, self- limited episodes of swelling involving the skin and the mucosa of the gastrointestinal tract and upper airway. The best characterized forms of HAE arise from deficiency or dys-function of C1 inhibitor (C1INH); however, there are other forms of HAE in which C1INH is normal.
A previously healthy 16- year- old female was admitted at the emer-gency department of our hospital after she woke up with prominent edema of the superior lip (Picture 1). She had no history of trauma nor had any history of food allergy. At the physical examination, she had angioedema of the left side of the superior lip, without urticaria or signs of respiratory distress. She had started oral contraception (OC) 2 months before. Reviewing the family history, her mother at the age of 19 years old, started having self- limited episodes of sub-cutaneous and submucosal angioedema with 2- 5 days of duration, that she associated to the beginning of OC and to the 2 pregnan-cies that she had had. Her grandmother died at the age of 24 with edema of the tongue. Our patient had normal C1INH, C1q and C4 values. With this presentation, a hereditary angioedema with normal C1 inhibitor was suspected. C1INH concentrate was administered with a poor response, with posteriorly perfusion of tranexamic acid and regression of the edema (Picture 2). She was discharged and fur-ther study was continued at our consultation. A genetic study was performed to identify a possible mutation in factor XII. A single het-erozygous nucleotide substitution within exon 9(c.983C>A) of the FXII was identified.
Prnted by [Selcuk Unverstes - 193.255.248.150 - /do/epdf/10.1
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