CD3G gene defects in familial autoimmune thyroiditis.

The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new CD3gamma-deficient siblings from a consanguineous family with a combined T-B+NK+ immunodeficiency and their variable clinical and cellular phenotypes despite the same homozygous mutation of the CD3G gene (c.80-1G>C). We also re-evaluate a previously reported non-consanguineous family with two CD3gamma-deficient siblings with the same mutation. The median age at diagnosis was 11 years (14 months-20 years). We found all five patients to display autoimmunity: autoimmune thyroiditis (n = 5), autoimmune haemolytic anaemia (n = 2), immune thrombocytopenia (n = 1), autoimmune hepatitis (n = 1), minimal change nephrotic syndrome (n = 1), vitiligo (n = 1) and positive antinuclear antibodies (n = 3) as well as high IgE (n = 2) and atopic eczema (n = 2). While CD3(+) TCRαß+T cell percentages were low in all patients, only one had lymphopenia and 3 had CD3(+) T cell lymphopenia. Strikingly, we report frequent and multiple autoimmunity in tested heterozygous carriers in both families (n = 6; in 67%), and frequent autoimmunity in family members not available for testing (n = 5, in 80%). The results suggest that CD3G should be studied as a candidate gene for autoimmunity and that CD3gamma deficiency should be considered among other primary immunodeficiencies with predominantly autoimmune manifestations.

A case of textile dermatitis due to disperse blue on the surgical wound.

Disperse blue (DB) 106 and DB 124 are the most frequent fabric dye allergens inducing textile dermatitis, but contact allergy to them may easily undiagnosed because the clinical picture usually needs high index of suspicion. We present the case of a 35-year-old woman who was referred for a recurred lesion over the incision scar of right total hip replacement surgery, which did not respond to treatment with povidone-iodine, mupirocin, and rifampicin. Patch testing, conducted with a European standard series and therapeutics that were used in the treatment of the lesion, revealed a positive reaction to dispersion mix blue 106/124. The patient was questioned in detail and reported that she has been wearing dark-colored synthetic panties for long years. The correlation was done between the positive antigen in the patch test and the clinical findings. The patient was treated with a corticosteroid cream for 2 weeks. She did not wear any dark-colored synthetic panties afterward and no flare-up was seen in the follow-up period. In this report, we emphasize the importance of detailed questioning of patients and that contact dermatitis should be considered potential cause of dermatitis at skin sites where the barrier function is compromised.

Awareness of allergy patients about herbal remedies: a cross-sectional study of residents of Ankara, Turkey

Objective: The use of herbs in patients with allergic diseases is a special problem and still controversial. The objective of this questionnaire-based study was to determine the rate of herbal use in allergy clinic outpatients as well as to explore patient knowledge. Methods: Patients with respiratory and/or skin disease, either atopic or non-atopic were assigned to a prospective questionnaire study conducted in allergy clinic outpatients. Results: Three hundred and ninety-five patients enrolled in the study. The mean age was 33.50 ± 12.14 years. Participants generally had a high educational level (40.5% college and 39% university graduated). The rate of herbal use was 14.2%. All characteristics were similar within herbal user and non-user patients, except gender and age. The number of female patients who use herbal products was greater than for males (p=0.043). Herbal use was common in patients in their late thirties (p=0.024). Three main rationales for herbal use were revealed: (i) acting upon advice of someone (41.1%); (ii) the belief that “herbals are always more beneficial than chemicals” (37.5%); and (iii) the trust that “herbals are always safe” (21.4%). Most of the participants have “no idea” (41.5%) or are “not sure” (33.7%) about potential harmful effects of herbs to allergic people. Conclusion: People will continue to use herbals for one reason or another. Allergists and clinical immunologists need to become more knowledgeable about herbal therapies so that they can inform patients about either the benefits or possible harmful effects of herbs

Awareness of allergy patients about herbal remedies: a cross-sectional study of residents of Ankara, Turkey.

OBJECTIVE: The use of herbs in patients with allergic diseases is a special problem and still controversial. The objective of this questionnaire-based study was to determine the rate of herbal use in allergy clinic outpatients as well as to explore patient knowledge. METHODS: Patients with respiratory and/or skin disease, either atopic or non-atopic were assigned to a prospective questionnaire study conducted in allergy clinic outpatients. RESULTS: Three hundred and ninety-five patients enrolled in the study. The mean age was 33.50+/-12.14 years. Participants generally had a high educational level (40.5% college and 39% university graduated). The rate of herbal use was 14.2%. All characteristics were similar within herbal user and non-user patients, except gender and age. The number of female patients who use herbal products was greater than for males (p=0.043). Herbal use was common in patients in their late thirties (p=0.024). Three main rationales for herbal use were revealed: (i) acting upon advice of someone (41.1%); (ii) the belief that "herbals are always more beneficial than chemicals" (37.5%); and (iii) the trust that "herbals are always safe" (21.4%). Most of the participants have "no idea" (41.5%) or are "not sure" (33.7%) about potential harmful effects of herbs to allergic people. CONCLUSION: People will continue to use herbals for one reason or another. Allergists and clinical immunologists need to become more knowledgeable about herbal therapies so that they can inform patients about either the benefits or possible harmful effects of herbs.

The role of ace gene polymorphism in the development of angioedema secondary to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers.

BACKGROUND: Angiotensin Converting Enzyme inhibitors (ACEi) may cause angioedema, with an incidence of 0.1 % to 1 %, which may be life-threatening. ACEi induce angioedema by increasing the levels of bradykinin. Angiotensin II receptor blockers (ATRB), have a pharmacological profile similar to ACEi. The polymorphism of the ACE gene is based on the presence or absence of a 287-bp element on intron 16 on chromosome 17. The plasma level of ACE is related to gene polymorphism. ACE level in genotype DD is double that in genotype II. OBJECTIVE: The aim of this study was to investigate whether the relationship between ACE gene polymorphism and ACEi induced angioedema is present or not. METHODS: ACE gene polymorphism was investigated in patients with angioedema due to the use of ACEi or ATRB (n:32, group 1), in patients receiving ACEi or ATRB without angioedema (n:46, group 2), and healthy controls (n:96, group 3). RESULTS: ID polymorphism was the most frequent genotype in all groups, without any significant difference among the groups (p:0.868). ACE gene polymorphism was not related with the drugs used (ACEi or ATRB), localisation of angioedema, and female sex, in group 1. CONCLUSION: Our results showed that ACE gene polymorphism has no effect on ACEi or ATRB induced angioedema.

The role of ace gene polymorphism in the development of angioedema secondary to angiotensin converting enzyme inhibitors and angiotensin II receptor blockers

Background: Angiotensin Converting Enzyme inhibitors (ACEi) may cause angioedema, with an incidence of 0.1 % to 1 %, which may be life-threatening. ACEi induce angioedema by increasing the levels of bradykinin. Angiotensin II receptor blockers (ATRB), have a pharmacological profile similar to ACEi. The polymorphism of the ACE gene is based on the presence or absence of a 287-bp element on intron 16 on chromosome 17. The plasma level of ACE is related to gene polymorphism. ACE level in genotype DD is double that in genotype II. Objective: The aim of this study was to investigate whether the relationship between ACE gene polymorphism and ACEi induced angioedema is present or not. Methods: ACE gene polymorphism was investigated in patients with angioedema due to the use of ACEi or ATRB (n:32, group 1), in patients receiving ACEi or ATRB without angioedema (n:46, group 2), and healthy controls (n:96, group 3). Results: ID polymorphism was the most frequent genotype in all groups, without any significant difference among the groups (p:0.868). ACE gene polymorphism was not related with the drugs used (ACEi or ATRB), localisation of angioedema, and female sex, in group 1. Conclusion: Our results showed that ACE gene polymorphism has no effect on ACEi or ATRB induced angioedema

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Is allergenic similarity predictable in respiratory allergies?

BACKGROUND: First degree relatives of patients with allergic diseases are at increased risk of having the disorder. However, it is not clear whether two such related patients with allergic diseases are sensitive to the same antigens or not. OBJECTIVE: The aim of this study to determine whether or not first degree relatives with respiratory allergies are more likely to be skin test positive to the same allergen extracts as unrelated patients. PATIENTS AND METHODS: Skin test results for 35 common aeroallergens were compared in 264 pairs of genetically related subjects and 264 pairs of age and sex matched, but unrelated, subjects. We calculate the percentages of the concordant and discordant results in each group. Results are compared by using chi2 test. RESULTS: For all related and unrelated groups combined, there were significant differences with mites (der. pteronyssinus, der. farinae) and some moulds (aspergillus mix and rhizopus nigricans) (p<0.05); When the groups were subdivided into parent-child pairs and same or different sibling pairs, and the same comparisons were made, a significant difference was only found in both sibling pairs (p<0.05), not in parent-child pairs (p>0.05). Since there was no both positivity with aspergillus mix and rhizopus nigricans in the two groups, these two allergens were excluded from the study. CONCLUSION: It is concluded that we could not say that if one or both of parents are atopic to any allergens, their child will be atopic to the same allergens. Besides, when a respiratory allergy occurs in siblings, only the one who has house dust mite allergy sensitivity can possess the similar antigen sensitivity.

Is allergenic similarity predictable in respiratory allergies?

Background: First degree relatives of patients with allergic diseases are at increased risk of having the disorder. However, it is not clear whether two such related patients with allergic diseases are sensitive to the same antigens or not. Objective: The aim of this study to determine whether or not first degree relatives with respiratory allergies are more likely to be skin test positive to the same allergen extracts as unrelated patients. Patients and Methods: Skin test results for 35 common aeroallergens were compared in 264 pairs of genetically related subjects and 264 pairs of age and sex matched, but unrelated, subjects. We calculate the percentages of the concordant and discordant results in each group. Results are compared by using x2 test. Results: For all related and unrelated groups combined, there were significant differences with mites (der. pteronyssinus, der. farinae) and some moulds (aspergillus mix and rhizopus nigricans) (p < 0.05); When the groups were subdivided into parent-child pairs and same or different sibling pairs, and the same comparisons were made, a significant difference was only found in both sibling pairs (p < 0.05), not in parent-child pairs (p > 0.05). Since there was no both positivity with aspergillus mix and rhizopus nigricans in the two groups, these two allergens were excluded from the study. Conclusion: It is concluded that we could not say that if one or both of parents are atopic to any allergens, their child will be atopic to the same allergens. Besides, when a respiratory allergy occurs in siblings, only the one who has house dust mite allergy sensitivity can possess the similar antigen sensitivity

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Serum leptin levels and lipid profiles in patients with allergic rhinitis and mild asthma.

BACKGROUND: Despite improved understanding of the pathophysiology of allergic rhinitis and asthma, the effect of serum leptin level is still controversial. Only a few studies have been performed to investigate the serum leptin levels in allergic rhinitis and asthma, and contradictory results have been observed. OBJECTIVE: We aimed to investigate the association between leptin, lipid profiles and allergic rhinitis and mild asthma, and to determine whether inhaled and/or intranasal steroids affect the leptin levels. PATIENTS AND METHODS: We studied 43 patients with allergic rhinitis (10 of with mild asthma) (mean age 29.81, range 18-45 yr) and 32 volunteers as a control group (mean age 30.53, range 20-45 yr). RESULTS: Serum leptin levels in patients were 8.49 +/- 10.76 microg/ml, and did not differ from volunteers 5.42 +/- 6.63 microg/ml. (p > 0.05). We found a direct link between increased body mass index (BMI) and serum leptin levels (p = 0.008). No association was seen between leptin and triglyceride, HDL-cholesterol, VLDL-cholesterol, eosinophil, total IgE (p > 0.05); except for total cholesterol and LDL-cholesterol (p < 0.05). Although, no correlation between allergic rhinitis and mild asthma and serum level of leptin was shown, these parameters and age correlations were stronger in female than in male (p = 0.39 for male and p = 0.011 for female), and also found direct link between increased BMI and sex and patients group (p = 0.008 for male and p = 0.0001 for female). We also determined that there was no effect of inhaled and/or intranasal steroids statistically on serum leptin levels. CONCLUSION: Our data demonstrate that the serum levels of leptin and lipid profiles on allergic rhinitis and mild asthma were not different than those in controls.

Not all ACE inhibitor related angioedema is always evident: a case which is misdiagnosed as panic attack and speech disorder.

Angiotensin-converting enzyme (ACE) inhibitors are the most common medications responsible for angioedema. Angioedema is a potentially life threatening conditions especially in geriatric age patients that they have take a several medications include ACE inhibitors and non steroidal anti inflammatory drugs. We present a case an ACE inhibitor induced angioedema that confused many clinical events.

Serum leptin levels and lipid profiles in patients with allergic rhinitis and mild asthma / Niveles de leptina sérica y perfiles lipidicos en pacientes con rinitis alérgica y asma leve

Background: Despite improved understanding of the pathophysiology of allergic rhinitis and asthma, the effect of serum leptin level is still controversial. Only a few studies have been performed to investigate the serum leptin levels in allergic rhinitis and asthma, and contradictory results have been observed. Objective: We aimed to investigate the association between leptin, lipid profiles and allergic rhinitis and mild asthma, and to determine whether inhaled and/or intranasal steroids affect the leptin levels. Patients and methods: We studied 43 patients with allergic rhinitis (10 of with mild asthma) (mean age 29.81, range 18-45 yr) and 32 volunteers as a control group (mean age 30.53, range 20-45 yr). Results: Serum leptin levels in patients were 8.49 ± 10.76 µg/ml, and did not differ from volunteers 5.42 ± 6.63 µg/ml. (p > 0.05). We found a direct link between increased body mass index (BMI) and serum leptin levels (p = 0.008). No association was seen between leptin and triglyceride, HDL-cholesterol, VLDL-cholesterol, eosinophil, total IgE (p > 0.05); except for total cholesterol and LDL-cholesterol (p < 0.05). Although, no correlation between allergic rhinitis and mild asthma and serum level of leptin was shown, these parameters and age correlations were stronger in female than in male (p = 0.39 for male and p = 0.011 for female), and also found direct link between increased BMI and sex and patients group (p = 0.008 for male and p = 0.0001 for female). We also determined that there was no effect of inhaled and/or intranasal steroids statistically on serum leptin levels. Conclusion: Our data demonstrate that the serum levels of leptin and lipid profiles

Antecedentes: A pesar de la mejor comprensión de la patofisiología de la rinitis alérgica y del asma, el efecto del nivel sérico de la leptina (hormona proteica 16-kDa) todavía es controvertido. Solamente unos pocos estudios se han llevado a cabo para investigar los niveles séricos de lectina en rinitis alérgica y asma, habiéndose observado resultados contradictorios. Objetivo: Investigar la asociación entre leptina, perfiles lípidos y rinitis alérgica y asma, así como determinar si los esteroides inhalados o intranasales afectan a los niveles de leptina. Pacientes y métodos: 43 pacientes con rinitis (10 de ellos con asma leve) (edad entre 18-45 años, media 29,81) y 32 voluntarios como grupo control (edad entre 20-45 años, media 30,65). Resultados: los niveles de leptina en los pacientes fue de 8,49±10,76 µg/ml, sin diferencia con los voluntarios: 5,42±6,63 µg/ml (p>0.05), Encontramos una relación directa entre el incremento del índice de masa corporal (IMC) y los niveles de leptina (p=0.008). No se observó ninguna asociación entre la leptina y triglicéridos, HDL-colesterol, VLDL-colesterol, eosinofilia o IgE total (p>0.05); excepto para el colesterol total y el LDL-colesterol (p>0.05). Aunque no se encontró correlación entre la rinitis alérgica y asma leve con los niveles de leptina, la correlación de estos parámetros y la edad fueron más marcados para las mujeres que para los hombres (p=0.39 en los varones y p=0.011 en las mujeres), encontrándose así una relación directa entre el incremento del IMC y el sexo en el grupo de pacientes (p=0.008 en varones y p=0.0001 en mujeres). También se comprobó que esto no fue efecto de los esteroides inhalados o intranasales. Conclusión: nuestros datos demuestran que los niveles séricos de leptina y el perfil lipídico en la rinitis alérgica y el asma leve no difiere del de los controles sanos

Not all ACE inhibitor related angioedema is always evident: a case which is misdiagnosed as panic attack and speech disorder / No siempre es evidente la relación de los inhibidores ACE con el angioedema: un caso que equivocadamente se diagnosticó de ataque de pánico y trastorno del habla

Angiotensin-converting enzyme (ACE) inhibitors are the most common medications responsible for angioedema. Angioedema is a potentially life threatening conditions especially in geriatric age patients that they have take a several medications include ACE inhibitors and non steroidal anti inflammatory drugs. We present a case an ACE inhibitor induced angioedema that confused many clinical events

Los inhibidores de la enzima conversora de angiotensina (ACE) son los medicamentos más comunes responsables del angioedema. El angioedema es una amenaza potencial de las condiciones de vida, especialmente en pacientes de edad geriátrica que tienen que tomar varios medicamentos incluidos los inhibidores ACE y antiinflamatorios no esteroides. Se presenta un caso de angioedema inducido por un inhibidor ACE que causó muchas confusiones clínicas

A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema.

Patients with hereditary angioedema (HAE) need a special concern during pregnancy. Although, the disease has a relatively benign course during pregnancy, maternal mortality has been reported. We present a HAE patient with recurrent attacks during pregnancy, but uncomplicated labor under C1INH concentrate prophylaxis.

A successful pregnancy and uncomplicated labor with C1INH concentrate prophylaxis in a patient with hereditary angioedema / Embarzo excitoso y parto no complicado con un concentrado de c1inh como profiláctico en una paciente con angioedema hereditario

Patients with hereditary angioedema (HAE) need a special concern during pregnancy. Although, the disease has a relatively benign course during pregnancy, maternal mortality has been reported. We present a HAE patient with recurrent attacks during pregnancy, but uncomplicated labor under C1INH concentrate prophylaxis

Las pacientes con angioedema hereditario (AH) necesitan una atención especial durante el embarazo. Aunque la enfermedad tiene un curso relativamente benigno durante el embarazo, se ha publicado algún caso mortal. Se presenta una paciente con AH con ataques recurrentes durante el embarazo, pero sin complicaciones en el parto al recibir tratamiento profiláctico con C1INH

Not all food additive related reactions originate from commercial foods: chronic urticaria due to home-made canned tomato.

Additives and preservatives in commercial foods have been implicated in the etiology of chronic urticaria, but such foods have not been widely accepted. In some countries, as in ours, people prefer to use home-made foodstuffs to avoid potentially hazardous commercial additives. However, not all home-made foodstuffs are safe, especially regarding allergies. In this report, we describe a patient with chronic urticaria due to home-made canned tomato prepared using "tomato drug" as a "safe (!)" additive.

Recurrent urticaria lesions in a heparin-allergic patient: most likely another form of "recall urticaria".

In this report we describe a female patient with a history of heparin allergy and recurrent urticaria lesions at definite locations where the heparin injections were administered previously.

Skin test positivity to aeroallergens in the patients with chronic urticaria without allergic respiratory disease.

The etiology of chronic urticaria and angioedema remains uncertain in most of the patients. There are several agents and factors including medications, foods and food additives, infections, contactants, inhalants, physical factors and autoimmunity that implicated in provoking urticaria symptoms. In addition, the possible role of house dust mites has been considered in a few reports. We investigated skin test positivity to house dust mites and other inhalants in 259 patients with chronic idiopathic urticaria and angioedema but without allergic rhinitis and/or asthma. Results were compared with both 300 healthy controls and 300 atopic patients. Immediate cutaneous reactivity to one or more allergens was detected in 71 patients in the study group (27.4%). The most common allergens were house dust mites (24.7%). Skin prick test sensitivity to other inhalant allergens including pollens, molds and cockroach were 7.7%, 0.4% and 0.8%, respectively. In the healthy control group 7% of patients were found as atopic with respect to skin prick test results. The most common allergens in healthy controls were pollens (6%), and house dust mites (4.7%). In atopic control group, pollens and mites are also the most common allergens detected in skin prick test (62% and 50.3%, respectively). The difference between study and healthy control group was statistically significant with respect to presence of atopy and mite sensitivity (p < 0.001). Similar differences were not established in other inhalant allergens. Significant mite sensitivity in the study group is not a coincidence. Because, ratio of skin test positivity to house dust mites in the study group was higher than the healthy controls, but was not as high as atopic patients. Furthermore, the rate of skin reactivity to other aeroallergens was not different from healthy controls. Urticaria as a sole clinical manifestation in mite sensitive patients was unusual.

Levothyroxine versus ketotifen in the treatment of patients with chronic urticaria and thyroid autoimmunity.

BACKGROUND: Thyroid hormone replacement therapy has previously been discussed as a feasible therapeutic approach in patients with chronic urticaria and/or angio-oedema (CUA) and thyroid autoimmunity (TA). OBJECTIVE: The efficacy of levothyroxine was investigated in patients with CUA and TA by comparing it with ketotifen treatment. METHODS: A total of 60 patients with CUA and TA were included in the study. Patients were divided into two groups, which were matched with respect to sex, age and symptom score. Each group consisted of 30 patients. Patients in one group were treated with ketotifen and the other with levothyroxine. After completion of the treatment periods, the pre- and post-treatment symptom scores, onset time of drug effects, duration of symptom-free period, recurrence ratios, recurrence times and side effects were evaluated for each drug. The two drugs were compared with each other according to these parameters. RESULTS: Ketotifen treatment provided significant relief of symptoms. However, these beneficial effects were observed only in ongoing treatment. Symptoms reappeared in all patients during the drug-free follow-up period. On the other hand, 18 of 30 patients were completely improved and three patients partially improved with levothyroxine treatment. Symptoms did not recur in the completely improved patients. CONCLUSION: Levothyroxine is an important and inexpensive treatment alternative in patients with CUA and TA.