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Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these patients may affect the nature and function of the immune system. Thus, in this study, cell count and phagocytotic function of neutrophils were evaluated which may be influenced by changes in the hormonal rate and growth factors. In this study, the neutrophil count value and the oxidative burst were evaluated in six patients diagnosed with SSS and six healthy individuals. There was a significant reduction in the neutrophil count observed in SSS patients compared to healthy controls (37.41±7.93 percent vs. 66.5±6.8 percent). However, there was no significant difference in neutrophil oxidative index between patients with SSS and control subjects (172.33±55.08 vs. 217.00±77.38). We concluded that in patients with SSS, the phagocytic activity of neutrophils was not affected by hormonal changes, while the number of neutrophils and neutrophil-to-lymphocyte ratio (NLR) index were decreased. [ABSTRACT FROM AUTHOR]

The emergence of a highly pathogenic virus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) accounts for severe pneumonia throughout the world. More than 7 million world population have been infected with SARS-CoV-2, and the number of deaths is increasing every day. This study aimed to evaluate the frequency of SARS-CoV-2 in hospitalized patients with acute respiratory infection (ARI). During an outbreak of the SARS-CoV-2, the nasopharyngeal and oropharyngeal swabs were collected from 909 hospitalized patients with severe pneumonia, including 517 (56.9%) males and 392 (43.1%) females. All the collected samples were from different cities of Khuzestan province from 19 February to- 27 March 2020. The RNA was extracted from samples and subjected to real-time polymerase chain reaction (PCR) tests for the detection of the SARS-CoV-2. Simultaneously, the computerized tomography (CT) scan was tested for the presence of ground-glass opacity in the lung among the patients. Of the total number of 909 specimens, 328 (36.08%) cases, including 185 (20.35%) females and 143 (15.73%) males, were positive for the SARS-CoV-2 while, 581 (63.9%) cases, including 374 (41.14%) males and 207 (22.77%) were negative for the SARS-CoV-2 by real-time PCR (p=0.001).Four hundred sixteen (45.76%) cases were positive for ground-glass opacity in the lung by CT scan, while 328/909 (36.08%) trials proved positive for SARSCoV- 2 by the real-time PCR (p=0.003). In this study, 36.08% of patients were positive for SARS-CoV-2. Although the results of positive cases by CT scan showed higher than real-time PCR, screening the SARS-CoV-2 with a real-time PCR method is the first line of choice. [ABSTRACT FROM AUTHOR]

Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14-month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN. [ABSTRACT FROM AUTHOR]

Received: 11 November 2017; Received in revised form: 20 July 2018; Accepted: 30 July 2018 ABSTRACT Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency disorder (PID) with less than 200 cases worldwide. Here, we report an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene (NM_001278728: exon 5: c.495G>A: p.Trp165*) and normal CD4+ T cell counts, diagnosed by whole exome sequencing (WES) and negative HLA-DR proteins on peripheral blood mononuclear cell (PBMC) in flow cytometry. She was referred with pneumonia, prolonged fever, resistance to antibiotics (ceftriaxone, clindamycin, and vancomycin), and low serum immunoglobulin (IG) levels, while natural killer (NK), B, and T cells were normal. She received intra-venous immune-globulin (IVIG) replacement, broad spectrum antibiotics, and anti-fungal treatments. The presented case report is interesting not only because of the rarity of the PID but also due to normal CD4+ T cell counts. According to our experience, we suggest that physicians consider MHC class II deficiency in families with consanguineous marriages, even with normal CD4+ T cell counts. At the first, the diagnosis of the disease could be successfully perform using WES, and finally, treatment with hematopoietic stem cell transplantation can save the patients' lives. [ABSTRACT FROM AUTHOR]

Limited evidence has been obtained concerning the beneficial effects of autologous serum therapy in treatment of skin disorders particularly chronic urticaria. In the present study, we have assessed the effect of this treatment method in patients with chronic urticaria (CU). This randomized single-blind controlled trial was performed on fifty consecutive patients with chronic urticaria. The patients were randomly assigned to receive autologous serum (as the case group, n=35) or normal saline (as the control group, n=15) and treated with monthly autologous serum therapy or normal saline for 6 months. The considered study endpoint was changes in total severity score (TSS) at the 6 months follow-up visit. The TSS score was assessed at baseline as well as at the ninth week and the sixth month of interventions. The mean±SD of TSS at the ninth week of intervention was 10.94±3.92 in autologous serum therapy group and 11.67±2.72 in the normal saline group (p=0.458). Furthermore, the mean values of TSS at the sixth month of treatment in the study groups were 8.29±6.29 and 9.27±4.89 respectively (p=0.593). A downward trend in TSS, from baseline to the end of treatment, was seen in the case and control groups (p<0.001 for both), however the trend of this decline was insignificant between the two groups (p=0.592). The change in the trend of TSS after 6 months of treatment was independent from the administration of autologous serum when compared with normal saline administration (beta=-0.962, p=0.630). Multivariate linear regression model with the presence of baseline factors including gender, age, disease duration and history of atopy was performed to assess difference in TSS at six-month follow-up visit compared with the baseline value. Only young age was associated with more reduction of TSS (beta=0.163, p=0.023). We found no difference in the effects of autologous serum therapy and normal saline on the trend of the changes in disease severity in patients with chronic urticaria. [ABSTRACT FROM AUTHOR]

Objective: Major histocompatibility complex (MHC) class II deficiency or Barelymphocyte syndrome (BLS) type II is an extremely rare primaryimmunodeficiency disorder (less than 200 cases worldwide), characterized by thepartial or complete absence of MHC class II-encoded molecules HLA-DR, -DP and -DQ. Laboratory features in these cases include normal B cell and CD8+ T cell andlow CD4+ cell counts. Here, we report an interesting case of MHC class II deficiencywith normal CD4+ T Cell counts that was diagnosed by Whole Exome Sequencing(WES).Material and Methods: The case is an 8-month-old girl born from related healthyparents with an expired sister due to the same disease with no definite diagnosis.Patient was referred to due to the lack of response to therapy with antibioticssuch as ceftriaxone, clindamycin, vancomycin, and admitted because ofpneumonia and prolonged fever. Clinical examination revealed normal B cell andT cell and NK cell numbers and low serum immunoglobulin levels. The IVIGreplacement and administration of broad-spectrum antibiotics and antifungal wasstarted. Patient was subjected to genetic study and WES was performed. MHCclass II expression was investigated looking for HLA-DR proteins on the surface ofperipheral blood mononuclear cell (PBMC) by flow cytometry.Results: A novel homozygous mutation in RFXANK gene (NM_001278728: exon5:c.G495A: p.W165X) was found that leads to a stop-gain mutation which can causeloss of function of protein. Sanger sequencing confirmed that patient ishomozygous and parents (father and mother) are carrier heterozygous for thismutation. HLA-DR expression was negative, confirmed MHC II deficiency in thispatient.Conclusion: Presented case history is interesting not only because of the rarity ofthis form of PID, but also due to normal CD4+ T cell counts. In spite of the high riskof postoperative complications, we recommended hematopoietic stem celltransplantation (HSCT) as the only curative treatment. We also recommendWES as a powerful tool in the identification of genetic causes of primaryimmunodeficiencies. [ABSTRACT FROM AUTHOR]