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Localized scleroderma is an uncommon autoimmune disease characterized by fibrosis of the skin and underlying tissue without involvement of blood vessels or internal organs. It usually affects children during later childhood, and early presentation of localized scleroderma during infancy is rare. In the current study, we report a child with localized scleroderma-related presentations occurring at birth. A 2-day-old male neonate presented with a firm, erythematous, and slightly pigmented plaque on his left thigh, leading to a change in the diameter of the affected foot and contracture of the left knee. At the age of 7 months, he was referred to our rheumatology clinic with normal growth and development. Laboratory studies, including urine and blood high-performance liquid chromatography assay, antinuclear antibodies, antitopoisomerase I, and rheumatic factor, were in the normal range. No signs of ocular involvement were noted during ophthalmological consultation. Skin biopsy showed mild acanthosis and collagen bundles, which replaced the fat around the sweat glands. A final diagnosis of localized scleroderma was made. Treatment was started with oral prednisolone, oral methotrexate (MTX), and colchicine. The skin lesion stopped progressing after 3 months of treatment. Steroid was then tapered over 6 months, while MTX and colchicine were continued for 2 years. Localized scleroderma during early infancy is a rare disease, but it should be considered as a differential in infants with erythematous and firm lesions on their body at birth because early treatment can prevent future complications.

Background: Alteration in serum expression of Transforming Growth Factor-beta (TGF-β) and IL-10 have been suggested to play a role in the pathogenesis of Kawasaki Disease (KD). Inconsistent reports exist on the association of IL-10 polymorphisms with KD susceptibility and Coronary Artery Aneurysms (CAA). Methods: A number of 110 paediatric patients with KD and 140 healthy individuals were recruited to investigate the frequency of Single Nucleotide Polymorphisms (SNPs) of TGF-β C/T at codon 10 (rs1982073), C/G at codon 25 (rs1800471) and IL-10 A/G at −1082 (rs1800896), C/T at −819 (rs1800871) and A/C at −592 (rs1800872) and their respective genotype and haplotypes. A comprehensive search was performed in MEDLINE and SCOPUS using the keywords of interleukin 10, transforming growth factor beta, and Kawasaki disease. Moreover, previous studies investigating the TGF-β and IL-10 polymorphisms in KD were evaluated. Review Manager Version 5.1 Software was used to perform meta-analysis. Results: There was no significant association between allelic or genotypic variants in the mentioned polymorphisms in TGF-β or IL-10 with KD or CAA. The only significant haplotypic variant was TC variant at codon 10, and 25 of TGF-β polymorphisms were associated with higher risk of KD. Meta-analysis of a total number of 770 patients vs. 1471 healthy controls showed no difference in the frequency of any of the IL-10 genetic variants in KD patients, regardless of the presence of CAA. Conclusion: Polymorphisms of TGF-β or IL-10 are not associated with additional risk for KD in Iranian population. IL-10 polymorphisms at −1082, −819 and −592 positions are not associated with KD, nor do they predict coronary artery aneurysm formation.

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Farsi language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach’s alpha, interscale correlations, test–retest reliability, and construct validity (convergent and discriminant validity). A total of 102 JIA patients (14.7% systemic JIA, 67.6% oligoarticular, 15.7% RF negative polyarthritis, 2.0% other categories) and 198 healthy children, were enrolled in three paediatric rheumatology centres. Notably, none of the enrolled JIA patients is affected with enthesitis-related arthritis or undifferentiated arthritis. The JAMAR components discriminated healthy subjects from JIA patients. All JAMAR components revealed satisfactory psychometric performances. In conclusion, the Farsi version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.

Aim Kawasaki disease (KD) is a systemic vasculitis of medium-sized arteries. High levels of interleukin 4 (IL-4) and the dominance of Th2 cytokines seem to be a key feature in the acute phase of KD. In this study, the role of IL-4 and IL-4R gene polymorphisms were investigated in Iranian children with KD. Methods Fifty-five patients with KD and 140 healthy subjects as a control group were enrolled in this study. Single nucleotide polymorphisms (SNPs) of IL-4 gene at positions −1098 (rs2243248), −590 (rs2243250) and −33 (rs2070874), as well as IL-4RA gene at position +1902 (rs180275) were assessed in patients and the control group. Results The C allele and CC genotype of IL-4 gene at position −590 and at position −33 had positive associations and the CT genotype at −590 was negatively associated with KD (odds ratio (95% CI) = 0.04 [0.01–0.09]). The haplotype TCC was more frequent among the patients, while the haplotypes TTT and TTC had a negative association with KD. Conclusion IL-4 polymorphisms might be associated with KD in an Iranian population.

Background Cytokines, including interleukin-1 (IL-1), seem to contribute towards the pathogenesis of juvenile idiopathic arthritis (JIA), so this study was designed to evaluate the associations of IL-1 gene cluster and IL-1 receptor (IL-1R) gene single nucleotide polymorphisms (SNPs) with JIA proneness in Iranian population. Materials and methods Genomic DNA of 55 Iranian patients with JIA and 140 controls were extracted and typed for IL-1α gene at position −889, IL-1β gene at positions −511 and +3962, IL-1R gene at position Pst-I 1970, and interleikin-1 receptor antagonist (IL-1Ra) gene at position Mspa-I 11100, using polymerase chain reaction with sequence-specific primers method, and compared between patients and controls. Results The CC genotype of IL-1Ra at Mspa-I 11100 position was found to be more frequent in patients with JIA compared to healthy individuals (P = 0.03), although the CT genotype at the same position was significantly higher in the control group in comparison with patients with JIA (P = 0.02). No significant differences were observed between the two groups of case and control for IL-1α (−889 C/T), IL-1β (−511 C/T and +3962 C/T) and IL-1R (Pst-1 1970 C/T). Conclusion The results of the present investigation suggest that certain IL-1Ra gene variants are associated with individuals’ susceptibility to JIA. Nevertheless, further studies are required to establish the results of the current study.

Purpose Juvenile systemic lupus erythematosus (JSLE) is a severe and chronic autoimmune disease of unknown origin. Inflammatory cytokines can play a pivotal role in the pathogenesis of JSLE, while their secretion is under genetic control. The current investigation was performed to analyse the associations of particular single nucleotide polymorphisms (SNPs) of interleukin-2 (IL-2) and interferon-gamma (IFN-γ) genes in a case control study. Materials and methods The allele, genotype and haplotype frequencies of the polymorphic IL-2 (G/T at −330, rs2069762, and G/T at +166, rs2069763) and IFN-γ (A/T at +874, rs2430561) genes were estimated in 59 patients with JSLE by contrast with 140 healthy controls using polymerase chain reaction with sequence-specific primers method. Results Results of the analysed data revealed a negative allelic association for JSLE in IL-2 −330/T (P = 0.02), as well as a positive allelic association for IL-2 −330/G (P = 0.02). IL-2 GG genotype (−330) in the patient group was also significantly overrepresented (P

OBJECTIVES The aim of this study is to identify the associations between interleukin 10 (IL-10) and transforming growth factor beta 1 (TGF-β1) gene polymorphisms and individual susceptibility to juvenile idiopathic arthritis (JIA) in a group of Iranian patients. BACKGROUND Cytokine genes, including IL-10 and TGF-β1, are known to play important roles in the pathogenesis of JIA. METHODS Using polymerase chain reaction with sequence-specific primers method, the frequency of alleles, genotypes and haplotypes of IL-10 (positions -1082, -819, -592) and TGF-β1 (codon 10, codon 25) single-nucleotide polymorphisms (SNPs) were investigated in 55 patients with JIA as a case group and compared with 140 healthy unrelated controls. RESULTS The G allele was significantly less frequent at TGF-β1 codon 25 in patients with JIA than in the controls (p < 0.01). The frequency of CT genotype at TGF-β1 codon 10 was found to be higher in healthy individuals in comparison with that in patients group (p = 0.04). We observed no differences in the frequency of alleles, genotypes and haplotypes of IL-10 gene between the groups of patients and controls. CONCLUSIONS Considering the low frequency of existence of TGF-β1 G allele at codon 25 as well as TGF-β1 CT genotype at codon 10 in patients with JIA, it seems that these cytokine gene polymorphisms could play role as the protective factors against JIA.

One of the causes of infants' hospitalizations is bronchiolitis, while different viral agents could be causative agents. As there is little information regarding the common agents of bronchiolitis in Iranian infants, we designed this study to determine which agents were responsible for hospitalization due to bronchiolitis among infants in an Iranian tertiary center. Two hundred and three infants with bronchiolitis who were hospitalized in Bahrami hospital were enrolled. Data regarding age, sex, duration of hospitalization, exposure to smoking, previous antibiotic usage and fever were collected for all enrolled cases. Throat sample by means of soap was collected and rapid test with immunochromatography (IC) test was performed. Rapid test was positive in 59 (29%) cases and three cases had concomitant infection with two viruses. The most common viral agent was RSV (Respiratory Syncytial Virus). Mean age was significantly lower in cases with RSV or RSV+ adenovirus infectious in comparison with other two groups (adenovirus or influenza only), while mean duration of hospitalization was significantly longer in RSV/RSV+ adenovirus group. RSV is the most common viral etiology of bronchiolitis in Iranian infants less than one year old, which is related with younger age and longer duration of hospitalization. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Near 10% of affected children have a relative with SLE. Autoimmune diseases are more common in relatives of children with SLE. As there is no study regarding the prevalence of autoimmune disease in cases with pediatric SLE, we designed this study to evaluate the prevalence of autoimmune disease in children with SLE. In this cross sectional study, 50 children with SLE and 50 healthy children were enrolled. A structured questionnaire was used to collect data regarding the presence of autoimmune diseases in relatives. One thousand eight hundred and thirty two relatives were evaluated in the case group and 1699 in the control group. The number of relatives with autoimmune diseases was significantly higher in the case group (26 vs 10). The most common autoimmune diseases were lupus, followed by thyroid diseases among cases, and thyroid diseases and rheumatoid arthritis in controls. According to the results of this study, the prevalence of autoimmune disorders is more common in relatives of children with SLE than in those of controls.

Purpose. To compare the laboratory data and changes in these data between patients with MAS and patients with flare-up of the autoimmune diseases.Methods. In a prospective study, the static laboratory data and dynamic changes in the selected data in 17 consecutive patients with MAS and 53 patients with active disease of SJIA, PJIA, Kawasaki disease, and SLE were compared. The ROC curve analysis was used to evaluate cut-off points, sensitivity, and specificity of the static and dynamic laboratory data to differentiate between MAS and active disease.Results. In the MAS group, the mean CRP3, ALT, AST, total bilirubin, ferritin, LDH, PT, PTT, and INR were significantly higher and the mean WBC2, PMN2, Lymph2, Hgb1, 2, 3, ESR2, serum albumin, and sodium were significantly lower than in control group. Some of the important cut-off points were PLT2 < 209000/microliter, AST > 38.5, ALT > 38, WBC < 8200 × 103/UL, ferritin > 5277 ng/mL.Conclusion. The dynamic changes in some laboratory data, especially PLT, can differentiate between MAS and active disease. The changes in WBC, PMN, and ESR and the levels of the liver enzymes may also be helpful in the early differentiation. Very high levels of ferritin may also help the diagnosis along with other clinical and laboratory signs.

Background: In JIA, cell-mediated immune response results in secretion of different inflammatory products from activated lymphocytes, macrophages, fibroblasts and leukocytes in synovial joints. Adenosine deaminase (ADA) regulates this immune system activity by metabolizing adenosine through purine metabolic pathway. Objectives: The aim of this study was to compare the level of serum ADA with synovial fluid ADA in JIA patients and to see whether it can be utilized as a marker for the activity of the disease Methods: JIA was diagnosed based on International League of Associations for Rheumatology diagnosis criteria. ADA was measured using special kits. Results: 80% of the patients had oligoarticular and 20% polarticulare JIA. There was a significant relation between erythrocyte sedimentation rate (ESR) and high level of synovial fluid ADA. Synovial ADA level was significantly higher than serum ADA in polyarticular JIA. C-reactive protein (CRP), leukocytes and platelets count were increased in high levels of synovial fluid ADA. No correlation was observed between level of serum and synovial fluid ADA. Conclusions: Synovial fluid ADA seems a more precise index than serum ADA to assess the inflammatory condition. In addition, acute-phase response reactants such as ESR, CRP, and platelets count could be suitable predicting parameters for arthritis.

Background: Gastrointestinal (GI) manifestations are common in patients with Henoch Schonlein Purpura (HSP) and it seems that ultrasound is the first modality for detecting GI involvement. This study was performed to evaluate the relationship between sonographic findings and clinical, and paraclinical symptoms. Methods: All patients with HSP referred to our clinic in 2011 and 2012, were enrolled in the study. The data including sonographic and other lab tests were collected and analyzed, and the association between sonographic findings and clinical, and paraclinical symptoms were evaluated. Results: Among 112 patients (68 males and 44 females), 28 cases had abnormality in their sonography that was higher in patients with GI and renal symptoms. Furthermore, length of hospitalization and need for corticosteroids was greater in patients with positive sonographic findings. Conclusions: In patients with HSP, ultrasound is a valuable modality to determine the prognosis of the disease.

Summary Juvenile systemic lupus erythematosus (JSLE) is a chronic, recurrent multisystem inflammatory disease, caused by a combination of environmental events and genetic risk factors. As cytokines, including interleukin-4 (IL-4), seem to have a role in the pathogenesis of JSLE, the investigation was performed to evaluate the associations of specific single nucleotide polymorphisms (SNPs) of IL-4 and IL-4RA genes in a case–control study. Fifty-nine patients with JSLE were recruited in this study as patients' group and compared with 140 healthy volunteers. Genotyping was performed for IL-4 gene at positions −1098, −590 and −33, as well as IL-4 receptor α (IL-4RA) gene at position +1902, using polymerase chain reaction with sequence-specific primers method. Following alleles were found to be more common among patients with JSLE: C at −590 and −33 and T at −1098 of IL-4 gene (P value

A 15-month-old boy, born to Iranian consanguineous parents presented with intermittent neutropenia interspersed with episodes of fever and leukocytosis since early infancy. No ELA2 mutations were found and the bone marrow study was normal. At age 4 years he progressed to more typical attacks of periodic attacks of fever, abdominal pain, oral aphthous ulcers, cutaneous rash and leukocytosis. The clinical and laboratory features were compatible with the mild form of mevalonate kinase deficiency, usually named "Hyper-IgD and periodic fever syndrome" (HIDS). Genomic sequencing of the mevalonate kinase (MVK) gene revealed homozygous missense mutation (p.Val377Ile). On demand dexamethasone resulted in a rapid amelioration of febrile episodes. The presentation of intermittent neutropenia has not been reported in HIDS and deserves more attention in large patient cohorts.

Aim Kawasaki disease (KD) is a systemic vasculitis of children associated with cardiovascular sequelae. Proinflammatory cytokines play a major role in KD pathogenesis. However, their role is both influenced and modified by regulatory T-cells. IL-1 gene cluster, IL-6 and TNF-α polymorphisms have shown significant associations with some vasculitides. Herein we investigated their role in KD. Methods Fifty-five patients with KD who were randomly selected from referrals to the main pediatric hospital were enrolled in this case-control study. Single nucleotide polymorphisms (SNPs) of the following genes were assessed in patients and 140 healthy subjects as control group: IL-1α at −889 (rs1800587), IL-1β at −511 (rs16944), IL-1β at +3962 (rs1143634), IL-1R at Pst-I 1970 (rs2234650), IL-1RN/A at Mspa-I 11100 (rs315952), TNF-α at −308 (rs1800629), TNF-α at -238, IL-6 at −174 (rs1800795) and IL-6 at +565. Results Twenty-one percent of the control group had A allele at TNF-α −238 while only 8% of KD patients had A allele at this position (P = 0.003, OR [95%CI] = 0.32 [0.14–0.71]). Consistently, TNF-α genotype GG at −238 had significant association with KD (OR [95% CI] = 4.31 [1.79–10.73]). Most controls carried the CG genotype at IL-6 −174 (n = 93 [66.9%]) while GG genotype was the most common genotype (n = 27 [49%]) among patients. Carriers of the GG haplotype at TNF-α (−308, −238) were significantly more prevalent among the KD group. No association was found between IL-1 gene cluster, allelic or haplotypic variants and KD. Conclusion TNF-α GG genotype at −238 and GG haplotype at positions −308 and −238 were associated with KD in an Iranian population.

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in children. Genetics and inflammatory elements seem to act as major underlying factors in its pathogenesis. The aim of this study is to identify the associations between interleukin-6 (IL-6) gene polymorphisms and individuals’ vulnerability to JIA in a group of Iranian pediatric patients. Fifty-four patients with JIA were enrolled in this investigation and compared with 139 healthy individuals. Using polymerase chain reaction with sequence-specific primers, cytokine genotyping was performed. The allele and genotype frequencies of two single nucleotide polymorphisms (SNPs) within the IL-6 gene at −174 and +565 positions were assessed. A significant positive association was observed for IL -6 −174 G allele in the patient group (p = 0.02). Furthermore, a positive association was observed in patients with JIA for the GG genotype at the same position (p

Background: Various indices have been raised as predictors of activity and severity of juvenile idiopathic arthritis. Objectives: This study was conducted to investigate the changes of platelet indices in acute phase and two months after treatment in these patients. Patients and Methods: In a cohort study, platelet count, mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT) were evaluated in children referred to children’s medical center, Tehran due to juvenile idiopathic arthritis from March 2013 to March 2014 during the acute phase and two months after standard treatment. The statistical data were analyzed by SPSS 19 software, and the significance level was set as P < 0.05. Results: In this study, 55 children (24 boys and 31 girls) with mean ± SD age of 7.50 ± 3.35 years were studied. The mean ± SD value of platelet count was 441872.7 ± 151836.9 in the acute phase and reached 395418.2 ± 119601.6 two months after treatment (P = 0.01). The mean ± SD PCT in the acute phase of various subtypes of the disease was 0.32 ± 0.11, which reached 0.29 ± 0.10 after treatment (P = 0.09). However, the PDW range in different subtypes of the disease reached 13.4 ± 8.0 from 13.9 ± 2.9 and MPV reached 8.7 ± 0.9 from 8.8 ± 1.1 after treatment, but they were not significantly different from the results in the acute phase (P = 0.5). Conclusions: Platelet count is one of the most remarkable indices in JIA. Evaluation of PCT can also help determine the severity of the inflammatory process in the follow-up and treatment process.

As cytokines, including interleukin-4 (IL-4), seem to have a pivotal role in the pathogenesis of juvenile idiopathic arthritis (JIA), this study is aimed at investigating of association of polymorphisms in IL-4 and IL-4 receptor α (IL-4RA) genes with susceptibility to JIA. A case-control study was conducted on 53 patients with JIA and 139 healthy unrelated controls. Single nucleotide polymorphisms of IL-4 gene at positions -1098, -590, and -33, as well as IL-4RA gene at position +1902 were genotyped using polymerase chain reaction with sequence-specific primers method and compared between patients and healthy individuals. At the allelic level, C allele at IL-4 -33 was found to be more frequent in patients compared to control (P value

Introduction: Involvement of penis is a rare presentation in henoch-schonlein purpura (HSP). The presentations are mainly due to the deposition of immunoglobulin A (IgA) into the vessel walls. In this report, we present the clinical history of nine HSP cases that presented with penile skin involvement. Case Presentation: All patients were referred in the acute phase of HSP. Penile skin involvement was evident as erythema, edema, ecchymosis, or induration of prepuce and/or penile shaft, that appeared simultaneously with skin rash in seven patients. Gastrointestinal involvement was positive in six patients. Patients were treated with steroids and follow up visits were normal except for one patient that developed crescentic glomerulonephritis. Conclusions: We present nine cases of HSP with penile involvement in order to indicate another rare aspect of HSP and its possible complications as well as its appropriate treatment.

Cytokines, including interleukin-2 (IL-2) and interferon-gamma (IFN-γ), seem to play a role in the pathogenesis of juvenile idiopathic arthritis (JIA). The aim of this study was to investigate the associations of IL-2 and IFN-γ single nucleotide polymorphisms (SNPs) with susceptibility to JIA in an Iranian population.Genomic DNA of 54 Iranian patients with JIA and 139 healthy unrelated controls were typed for IL-2 (G/T at -330 and +166) as well as IFN-γ gene (A/T at +874), using polymerase chain reaction with sequence-specific primers method, and compared between patients and controls.A significantly higher frequency of the IL-2 -330 GG genotype (p0.01) was found in the JIA patients compared to the controls. However, the GT genotype at the same position was notably lower than in controls (p0.01). Moreover, IL-2 (-330, +166) GT haplotype was more frequent in patients with JIA in comparison with controls. No significant differences was observed between the two groups of case and control for IL-2 (G/T at +166) and IFN-γ (A/T at +874) SNPs.The results of the current study suggest that certain SNPs of IL-2 gene have association with individuals' susceptibility to JIA. However, further investigations are required to confirm the results of this study.

Summary Juvenile idiopathic arthritis (JIA) is a heterogeneous autoimmune disorder of unknown origin. As proinflammatory cytokines are known to contribute towards the pathogenesis of JIA, this case–control study was performed to examine the associations of certain single nucleotide polymorphisms (SNPs) of tumour necrosis factor-α (TNF-α) gene. Fifty-three patients with JIA participated in this study as patients group and compared with 137 healthy unrelated controls. Genotyping was performed for TNF-α gene at positions -308 and -238, using polymerase chain reaction with sequence-specific primers method. Results of the analysed data revealed a significant positive association for TNF-α gene at positions -308 and -238 for A allele in patients group compared with controls (P

Dear Editor, Chronic Granulomatous Disease (CGD) is a result of deficient oxidative burst and impaired generation of reactive oxygen species due to mutations in genes encoding for NADPH oxidase complex (1). CGD usually presents with recurrent infections such as pneumonia, lymphadenitis osteomyelitis and hepatic or other abscesses (2) Rheumatologic disorders is a rare manifestation of first presentation of CGD. Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children. It collectively refers to a group of chronic arthritis of at least six weeks duration in children or adolescents under the age of 16 (3). JIA is a common problem in immuodefficiency diseases but is not common in CGD. However, there is a little reports of concordances of rheumatologic diseases and immunodeficiencies. In addition to increased susceptibility to infections in patients with CGD, a higher incidence of sterile inflammatory disorders in these patients has been noted (4). Our patient is a young boy who was born to the related parents whose their previous two children were dead because of myelomeningocele and anencephaly, respectively. The patient was 2 years old when he suffered from pelvic pain .Considering clinical findings in addition to 4 + RF, anti-CCP: 200 and negative HLA B5, B8 and B27, he was diagnosed as poly articular JIA. He was on medication (prednisolone and metotraxate) for years without remission but he had any complications. When he was 6 years old he experienced several episodes of sinusitis, cervical lymphadenitis and pneumonia. His lymphadenitis was managed surgically because it did not respond to non invasive therapies. In his admission to hospital because of pneumonia several work ups were performed as a result of unsuccessful antibiotic therapy. Bronchoscopy revealed nothing. Complete bold count was normal (WBC = 9300 with 63% PMN). CD markers and all serum immunoglobulins level were in normal range. Nitroblue Tetrazolium (NBT) test in patients was 0 but in father and mother’s patient was 87 and 98, respectively (normal range: 52 - 88 μg). In addition, activity dihydrorhodamine (DHR) Flow Cytometric test reduced in patient (DHR = 8) and in father and mother’s patient was 27.5. The patient underwent CGD treatment based on the laboratory data, and clinical improvement was soon appeared. Now he is on JIA and CGD treatment with poor control of his joint involvements and he gradually developed ulnar and plantar deviation which has made him using braces. There are some reports of concordances of rheumatologic diseases and immunodeficiencies. There are reports of CGD accompanying Kawasaki disease (5) DiGeorge and JIA (6), CGD in a girl with SLE and CGD in a patient with antiphospholipid antibody syndrome (7). Lee and Yap were among the first researchers who reported a patient with CGD and JIA. Despite our patient, they reported a girl who developed JIA after CGD (8). De Ravin and colleagues also reported different cases of CGD which gradually developed different rheumatologic disorders among them there is a patient with JIA who had been previously diagnosed as CGD (7). The difference between these reports and ours was the priority of immunodeficiency in their cases and rheumatologic disorder in our case. Some authority believe CGD might itself be an associated risk factor for developing immune-based inflammatory disorders (4). However, there are authors that believe JIA acts as a predisposing factor for autoimmunity (7). Collectively, we believe that immunodeficiency and rheumatologic disorders are the two ends of a spectrum in which a patient might demonstrate different manifestations of each. So, for each immunodeficient or rheumatologic patient every sign and symptoms should be precisely considered because it might be a presentation of a new disorder.

As abundant types of genetic predisposition and environmental factors seem to be associated with the development of juvenile-onset systemic lupus erythematosus (JSLE), we investigated the gene polymorphisms of two anti-inflammatory cytokines, including interleukin-10 (IL-10) and transforming growth factor-beta (TGF-β), which were previously found to be associated with SLE in adults, in a group of patients with JSLE. We studied a group of 59 Iranian patients with JSLE in comparison with 140 healthy controls and assessed the frequency of alleles, genotypes, and haplotypes of IL-10 and TGF-β single-nucleotide polymorphisms (SNPs) using polymerase chain reaction with sequence-specific primers method. The CA genotype was significantly more frequent at position −592 in IL-10 in patients with juvenile-onset systemic lupus erythematosus than in the controls (P = 0.01). Genotype CC was detected at the same position in 32.7 % of the patients; this frequency was significantly lower than the frequency of 50.7 % recorded in the healthy controls (P = 0.03). The TC haplotype of TGF-β (codon 10, codon 25) was significantly more frequent in the patients with juvenile-onset systemic lupus erythematosus than in the healthy controls (P = 0.02). Nevertheless, these significant associations disappear after Bonferroni correction. Our findings suggest that IL-10 (−1082, −819, −592) and TGF-β (codon 10, codon 25) gene variants may not be associated with the development of JSLE in Iranian population.

Background: Juvenile systemic lupus erythematosus (JSLE) is a polygenic, autoimmune disorder of unknown origin. As proinflammatory cytokines, including interleukin-6 (IL-6) and the interleukin-1 (IL-1) family, seem to contribute to the pathogenesis of JSLE, this investigation was performed to assess the associations of particular single nucleotide polymorphisms (SNPs) of IL-6 and IL-1 genes in a case-control study. Methods: Fifty nine JSLE cases were recruited for this study as the patient group, and were compared against 140 healthy, unrelated, control subjects. Using the polymerase chain reaction with the sequence-specific primer method, genotyping was carried out for the IL-6 gene at positions -174 and nt565, as well as the IL-1α gene at position -889, the IL-1β gene at positions -511 and +3962, the interleukin-1 receptor (IL-1R) gene at position Pst-I 1970, and the interleukin-1 receptor antagonist (IL-1Ra) gene at position Mspa-I 11100. Results: Results of the analyzed data revealed a remarkable, positive association for the promoter sequence of the IL-1β gene at position -511 for T/T in the patient group compared with healthy controls (P value, 0.03). Furthermore, a significant negative association was found between the T/C genotype at the same position on the IL-1β gene in juvenile SLE (P value, 0.03). Conclusions: cytokine gene polymorphisms might play a role in the pathophysiology of JSLE. Particular IL-1 gene variants could affect individual susceptibility to JSLE.

A 7-year-old boy with high grade fever (39°C) and warm, erythematous, and indurated plaque above the left knee was referred. According to the previous records of this patient, these indurated plaques had been changed toward abscesses formation and then spontaneous drainage had occurred after about 6 to 7 days, and finally these lesions healed with scars. In multiple previous admissions, high grade fever, leukocytosis, and a noticeable increase in erythrocyte sedimentation rate and C-reactive protein were noted. After that, until 7th year of age, he had shoulder, gluteal, splenic, kidney, and left thigh lesions and pneumonia. The methylprednisolone pulse (30 mg/kg) was initiated with the diagnosis of Sweet’s syndrome. After about 10–14 days, almost all of the laboratory data regressed to nearly normal limits. After about 5 months, he was admitted again with tachypnea and high grade fever and leukocytosis. After infusion of one methylprednisolone pulse, the fever and tachypnea resolved rapidly in about 24 hours. In this admission, colchicine (1 mg/kg) was added to the oral prednisolone after discharge. In the periodic fever and neutrophilic dermatosis, the rheumatologist should search for sterile abscesses in other organs.

Objective: Juvenile systemic lupus erythematosus (JSLE) is a common rheumatologic disorder that involves multi organ systems. Prognosis of lupus in children may be poorer than in adults. In this study, we determined mortality and morbidity rates in the pediatric SLE in Iran. Methods: In a cross sectional study, we evaluated 120 children with SLE who had registered in our pediatric rheumatology database within 2004-2010. Data including sex, age, remission, age at the time of diagnosis, age at the time of study, various types of organ involvement, mortality and remission were extracted from this database. Findings : From 120 cases, 77% (92 cases) were females and 23% (28 cases) males (F:M=3.3). Mean follow up period was 56±32 months and mean age at the time of manifesting disease 10.34±2.9 years. Mortality rate was 10% (12 cases) in our investigation. Musculoskeletal involvement showed significant difference between various age groups (P

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of unknown etiology with multisystem involvement. A number of pulmonary complications including pleuritis, pneumonitis, infectious pneumonia, and pulmonary hemorrhage, have been reported in patients with SLE. Pulmonary hemorrhage is a major life-threatening manifestation in children and adolescents with SLE. Mycophenolate mofetil is an immunosuppressive agent used in solid organ transplantation, and it may play an increasing role in autoimmune disease. In this report, we present two cases of childhood SLE with recurrent pulmonary hemorrhage, which were unresponsive to treatment with high-dose corticosteroids, cytotoxic therapy, IVIG, plasmaphoresis, and supportive therapy, but responded to IV mycophenolate mofetil. A multimodal therapy including mycophenolate mofetil was effective in treatment of these two children.

Patient: Female, 12 Final Diagnosis: Antiphospholipid positive SLE Symptoms: Gangrene • Raynaud’s phenomenon • autoamputation of the terminal phalanx of the second left hand finger Medication: Prednisolone • mycophenolate mofetil • captopril Clinical Procedure: Renal Biopsy • treatment of lupus nephritis • control of hypertension Specialty: Pediatric rheumatology Objective: Unusual clinical course Background: SLE in children has many manifestations. In several studies on SLE in children, gangrene and Raynaud phenomenon have been described as a rare manifestation of SLE during its course in children. Case Report: We present the case of a 12-year-old girl referred to our center, presenting with peripheral gangrene plus Raynaud’s phenomenon, who proved to have SLE. Our patient was treated with steroids and mycophenolate mofetil. She appeared to respond to this combination judging by the disappearance of the digital cyanosis, appearance of extremity pulses, and return of renal function. Conclusions: This case highlights the importance of precise management and awareness of very rare manifestations of a common disease like SLE. Gangrene can be initial symptom of SLE in children. We recommend SLE evolution in all children with gangrene symptom.

Pleuritic pain is not an unusual problem in children. Other concomitant symptoms should be considered for diagnostic approach in a child with pleuritic chest pain. In this report we discuss chest pain in a 6-year-old child with regard to other signs and symptoms. Finally, we found a rare life-threatening complication of juvenile systemic lupus erythematosus (JSLE) in our patient.

Results Totally 120 patients evaluated in this study including 108 JIA and 12 SLE. Five patients (4 girls and 1 boy) were considered to have evidence of MAS (incidence rate 4.2%). This rate for all JIA patients was 3.7% and for SoJIA, SLE and juvenile idiopaticarthritis (JIA) and polyarticular RF negative JIA was 8.2%, 16.7% and 2.8%, respectively. Mean age of MAS onset was 4.9 years, and duration of rheumatologic disease prior to MAS, 22 months. Four cases (80%) had abnormal liver function during the disease course, and coagulopathy. Bone marrow examination supported the diagnosis with definite haemophagocytosis in four cases (80%). The mortality rate was 40%. Conclusion Incidence of MAS in our JIA patients was about other studies, but the mortality rate was higher than other reports. Although MAS is a rare complication, because it is potentially fatal it must be considered in each childhood rheumatic disorders with suddenly changes in general condition and decrease peripheral cells.

Background: Serum sickness-like reactions (SSLR), although rare in clinical practice, most commonly occurs in children following drug consumption specially following antibiotic therapy. The aim of this study was evaluation of predictive factors on hospitalization period in serum sickness like reaction. Method: All patients with SSLR diagnosis who admitted in a tertiary children hospital in Tehran (Children’s Medical Centre) during 2009-2012 enrolled in this study. In addition to demographic data, fever, cutaneous eruptions and arthralgia/arthritis, other organ involvement and the name of drugs which used during 2-3 past weeks, were registered. Laboratory findings were assessed in all pa tients. Severity of SSLR was defined based on the duration of admission and end organ involvement. Findings: Overall, among 70 patients, just 4.3% had previous history of SSLR. Skin rash was generalized in 94.3% patients. Joint involvement and fever were observed in 85.7% and 64.3%, respectively. History of recent upper respiratory tract infection was found in 48.6%. Fifty patients (71.4%) had his tory of recent antibiotics therapy. Cefixime and furazolidon were the most common used antibiotics (25.7% and 21.4%, respectively). Sever SSLR was seen in 34.4%of patient. Erythrocyte sedimentation rate (ESR), peripheral leukocyte count (WBC), thrombocytosis and positive C-reactive protein (CRP more than 2+) were significantly higher in patient with prolong hospitalization (P

Background: Adenosine deaminase (ADA) is a purine metabolism enzyme that can be used as an indicator of cellular immunity for monitoring of inflammatory diseases. The aim of this study was to investigate the changes of serum adenosine deaminase before and after treatment in patients with systemic lupus erythematosus (SLE), Henoch-Schonlein purpura (HSP) and juvenile idiopathic Arthritis ( JIA). Methods: The study comprised 103 patients with JIA, 17 with SLE and 30 HSP. The serum ADA was measured of all patients before and after treatment or remission. Serum ADA was measured by an ultraviolet kinetic method with NADH as substrate. Normal value for serum ADA level was less than 15 IU/L. Results: Positive serum ADA was found in 38 patients with JIA (38.9%), 9 patients (52.9%) with SLE and 6 patients (20%) with HSP. During the disease activity (before treatment), the mean serum ADA in patients with JRA was 15.1±10.9 IU/l, vs. 12.6±4.5 IU/l in patients with HSP and 18.8±11.95 IU/l in patients with SLE (P=0.097). There was no significant differences in changes of ADA levels between disease activity and after control (p= 0.1) in SLE. In patients with JIA, there was significant differences in changes of ADA levels between disease activity and control (p= 0.01). There was no significant differences in changes of ADA levels between disease activity and control (p= 0.2) in HSP. Conclusion: Determination of ADA serum levels is as noninvasive method, reliable and easy for diagnosis of JIA and can be used as alternative parameters representing disease activity in SLE patients.

We report a new case of systemic lupus erythematosus (SLE) who first presented with large thrombosis of the inferior vena cava and then right jugular vein. From our review of the literature, this is a unique report of such complication as the first manifestation of childhood SLE. A 10 year old previously healthy boy presented with chest pain and fever, arthralgia, dyspnea, hypertension, nephrotic range proteinuria and microscopic hematuria. Ultrasonography reviled a 4.5 cm thrombosis in the inferior vena cava, above the origin of renal vein. High levels of antinuclear antibody (ANA) and Anti DNA antibody titers supported the diagnosis of SLE. Antiphospholipid Antibodies were negative and Anti thrombin III, protein C and S were in normal values. After 1.5 year another thrombotic attack occurred in the right jugular vein proximal to clavicle. After one year proscription of mycophenolate mofetil proteinuria as well as Anti ds DNA titer decreased. It seems that in patients with refractory nephrotic syndrome due to lupus nephritis, thromboembolic events must be taking into consideration.