جستجوی مقالات مرتبط با کلیدواژه "immunodeficiency" در نشریات گروه "پزشکی"

The herpesvirus family includes Human Cytomegalovirus (HCMV), a potent pathogen capable of infecting humans. In healthy individuals, this infection often presents without specific symptoms. After the initial infection, the virus remains dormant in the body but can reactivate later. Reactivation of the virus is one of the primary causes of illnesses associated with HCMV. Human Cytomegalovirus infection is lifelong, and the virus cannot be eliminated from the human body. Although host cells mount an immune response following infection, HCMV expresses genes that encode products capable of countering and adapting to this immune response. The virus is commonly transmitted through bodily fluids. In immunocompromised individuals, HCMV infection can be extremely dangerous and may result in severe, potentially life-threatening infections. For decades, researchers have been investigating the potential link between HCMV and cancer. Recent studies have shown that HCMV DNA and virus-specific antibodies are present in many types of cancer, suggesting that HCMV may play a significant role in cancer development. Further research on HCMV infection and its role in carcinogenesis will enhance our understanding of this virus and facilitate the development of more effective prevention and treatment strategies. In the following study, we will explore the relationship between HCMV infection and its potential role in cancer development.

Hyper-immunoglobulin E syndrome (HIES),also known asJob's syndrome, is a rare primary immunodeficiency disorder characterized by a classic triad: elevated immunoglobulin E (IgE) levels, recurrent pneumonia with pneumatocele formation, and recurrent cold skin abscesses.

Case:

A 5-year-old girl was referred to the pediatric dentistrydepartment for tooth decay and multiple dental abscesses. Her medical history revealed elevated serum IgE levels, and she was receiving treatment with warfarin due to a history of jugular vein thrombosis. Clinical examination showed numerous skin abscesses alongside multiple eczemas.Angular cheilitis, de-papillation of the tongue, deep furrows on the tongue, numerous intraoral ulcerated lesions, poor oral hygiene, and gingivitis were seen in the intraoral examination.Due to the systemic conditions and thechild's non-cooperation, treatment under general anesthesia was planned.

Dentists play an essential role in the early diagnosis of HIES and in monitoring their oral health conditions. Timely extraction of over-retained primary teeth can reduce the necessity for complex treatments, thereby facilitating the management of patients with Job's syndrome.

The purpose of this study was genetic evaluation of patients suspected of immunodeficiency,without a definitive diagnosis, referred to the Immunodeficiency Clinic of Akbar Hospital in Mashhad in2021-2022.

In this study, patients suspected of immunodeficiency, without a definitive diagnosis, referred toan immunodeficiency clinic were included A complete clinical and paraclinical examination has been doneby expert specialists and clinical geneticists. Blood samples were taken for genetic analysis using the ExomeSequencing technique followed by comprehensive bioinformatics analysis. Parents and healthy offspringwere assessed for the candidate gene variants.

In this study, 185 patients were included; 58.56% of them were male; The average age of theparticipants was 9.28±5.40 years, and consanguineous marriage of parents was observed in 79.8 % of cases. Pneumonia with 33.51% was the most common clinical manifestationin patients with suspected immunodeficiency. In total, 41.14% of patients suffered from combined immunodeficiency, 26 .86% of them had defects of phagocyte number, function, or both; and 24% had predominantly antibody deficiencies.Hyper IgE syndrome was detected in 16% of patients, SCID and CGD each in 14.86% of patients, CVID in 12% of patients, and LAD in 7.43% of them. In 37.04% of the identified genes, there was a discrepancy between clinical and genetic diagnosis in patients.

The most common clinical manifestation of patients suspected of primary immunodeficiency is pneumonia; therefore, patients who suffer from recurrent respiratory infections should be checked for genetic immunodeficiency. In this study, most patients were in the groups of immunodeficiencies affecting multiple cell types, defects of phagocyte number, function, or both; and predominantly antibody deficiencies, respectively. The most common diseases diagnosed were: Hyper IgE syndrome, SCID and CGD, CVID, and LAD.

Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of combined immunodeficiency with a profound cellular defect. Patients with PNP deficiency suffer from variable recurrent infections, hypouricemia, and neurological manifestations. Furthermore, patient 1 developed mild cortical atrophy, and patient 2 presented developmental delay, general muscular hypotonia, and food allergy. The two unrelated patients with developed autoimmune hemolytic anemia and T cells lymphopenia and eosinophilia were referred to Immunology, Asthma and Allergy Research Institute (IAARI) in 2019. After taking blood and DNA extraction, genetic analysis of patient 1 was performed by PCR and direct sequencing and whole exome sequencing was applied for patient 2 and the result was confirmed by direct sequencing in the patient and his parents. The genetic result showed two novel variants in exon 3 (c.246_285+9del) and exon 5 (c.569G>T) PNP (NM_000270.4) in the patients, respectively. These variants are considered likely pathogenic based on the American College of Medical Genetics and Genomics (ACMG) guideline. PNP deficiency has a poor prognosis; therefore, early diagnosis would be vital to receive hematopoietic stem cell transplantation (HSCT) as a prominent and successful treatment.

 Elizabethkingia meningoseptica (EM) is a gram-negative aerobic organism that can cause severe infections. Although the incidence is higher in developing countries, human infections associated with this organism are seldom described in Serbia. This bacterium is usually resistant to most antibiotics, making the treatment challenging.We present a single twin born as a late-preterm newborn who developed sepsis and meningitis caused by EM.

 This case report aims to show that this rare bacterium is present in our country and the clinical presentation of the resulting disease and bacterial resistance to antibiotics. In addition, we assessed if a more thorough diagnosis, including the immunological status of the newborn, is needed.

 Considering the high mortality and morbidity rates of EM and its multiresistance, early identification of the infection cause and determining the patient’s immunological status are vital for treatment and improved patient outcomes.

With the rise in life expectancy, there has been an increase in the population with immune deficiency. This necessitates the need to find ways to improve the quality of life and survival rate for these individuals. This review focuses on dietary modifications as a means to boost the immune system. The abstract emphasizes the significance of nutrition and lifestyle changes in supporting immune function. A well-balanced diet, rich in essential nutrients and immune-boosting foods, is crucial. Addressing nutrient deficiencies, engaging in regular physical activity, and managing stress are also important for improving immune health. Individuals with immune deficiencies should seek guidance from healthcare professionals when making dietary changes. Food safety is closely linked to immune health, especially for immunocompromised individuals who have a higher risk of foodborne diseases. Preventing foodborne infections involves implementing food safety management systems and following low microbial diets. While diet is significant, other interventions are also important for individuals with compromised immune systems. Planning a healthy diet for these patients should consider adequacy, balance, calorie control, nutrient density, moderation, and variety. In conclusion, enhancing the immune system and improving the quality of life for individuals with immune deficiencies requires a comprehensive approach that includes dietary modifications, food safety practices, and other lifestyle changes. By implementing these strategies, it is possible to strengthen the immune system and enhance health outcomes for individuals with compromised immune function.

Blastocystis sp., is a prevalent protist isolated from humans and animals, which its opportunistic role in immunocompromised patients is still controversial. The current study aimed to evaluate the subtype and alleles distribution of Blastocystis sp., among immunocompromised patients.

Totally, 33 microscopically Blastocystis-positive stool samples, isolated from Guilan province during April 2018 to May 2019 were investigated. Total DNA extraction was performed and the barcoding region of the small subunit ribosomal RNA (SSU rRNA) gene was amplified. Targeted fragments were sequenced to characterize subtypes and relevant alleles. Phylogenetic tree was constructed using Maximum-likelihood and Tamura 3-parameter to illustrate the correlation between subtypes and certain immunodeficiency.

Subtype analysis revealed the presence of ST1, ST2, ST3, and ST7 among 13/33 (39.4%), 5 (15.2%), 14/33 (42.4%), and 1/33 (3%), of samples, respectively. ST1 was the major subtype among cancer patients 5/7 (71.42%), while ST3 was the predominant subtype among rheumatoid arthritis (RA) patients 3/6 (50%), internal ward patients 5/10 (50%), and asthma and allergy patients 2/3 (66.66%). ST7 was isolated from a patient hospitalized in internal ward. No significant correlation was seen between the type of immunodeficiency and subtypes (P-value = 0.771). The phylogenetic tree showed no separation regarding the type of immunodeficiency.

Among studied immunocompromised patients, ST3 was the most prevalent subtype followed by ST1. There was no specific correlation between subtypes and alleles with type of immunodeficiency. Putative zoonotic alleles were highlighted the probability of zoonotic transmission for Blastocystis sp.

Lymphadenitis is the most common complication following BCG vaccination observed in 0.1% to 1% of children.

The presence of immunodeficiency can increase the probability of lymphadenitis or contribute to its exacerbation, so the early detection of immunodeficiency in those developing lymphadenitis can help prevent its many catastrophic complications.

This study was performed on patients referred to Taleghani Hospital of Gorgan city in 1396. Forty children with lymphadenitis and 40 healthy children entered the study. Serum samples were taken to measure white blood cell counts and the antibodies, including IgE, IgG, IgM, and IgA. Purified protein derivative (PPD) test was done in both groups.

In this study, there were 40 patients with lymphadenitis, of whom 24 were boys (60%), and 16 were girls (40%), and in the control group were 22 boys (55%) and 18 girls (45%). There was no statistically significant difference between the two groups. Lymphadenitis was ipsilateral to the vaccine injection site in all 40 cases, and it was in the anterior axillary region in 82%. Abscess at the lymphadenitis site occurred in 25% of cases. The mean size of induration following PPD in the lymphadenitis group was larger than the control group (5.86 mm and 3.04 mm, respectively) (P = 0.004). There were five patients (12.5%) under one year of age with lymphopenia (lymphocyte count > 3,000), but no lymphopenia was observed in the control group. The mean average IgA and IgM levels were different between the case and control groups (P = 0.001), (P = 0.016), respectively. There was no statistical difference in IgG and IgE levels between both groups (P = 0.92 and P = 0.762, respectively).

This study shows that the size of indurations following PPD injection is higher in those with post-vaccination lymphadenitis. Although the probability of a primary immunodeficiency disorder in the cases of our study was low considering the normal immunoglobulin levels and CBC report, further studies with a larger sample size and more specific investigations, such as flow cytometry and specific antibody response, are needed.

Common variable immunodeficiency (CVID), is generally recognized as the most frequent type of Symptomatic primary immunodeficiencies (PID). Mutations in lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene, are the most common genetic alterations amongst CVID patients. To date, there are no published studies to compare clinical and immunologic features of LRBA-deficient patients with those who do not harbor any known genetic mutations. Therefore, this study aims to compare the clinical manifestations and laboratory findings of Iranian patients with LRBA-deficiency and CVID with no known genetic alterations.

We performed a longitudinal study on patients who had been diagnosed with CVID. Demographic and clinical features were obtained via the databank of the Iranian Registry of Primary Immunodeficiencies, and the direct interviews with patients. To assess the presence of LRBA or other genetic mutations, whole-exome sequencing (WES) was used. Immunologic characteristics of patients were evaluated using flow cytometry, nephelometry, and conventional blood counts. The current study is conducted at Tehran’s Children Medical Center and is approved by the ethics committee of Tehran University of Medical Sciences.

Between March 2013 and October 2019, we enrolled 30 patients with LRBA-deficiency and 13 patients with CVID, who had no identified genetic mutations. Regarding clinical features, there were no significant differences for the prevalence of infections at different sites (lung, sinuses, and middle ear) among the two groups (all P > 0.05). However, the incidences of autoimmune disorders and enteropathy were significantly higher among LRBA-deficient cases (P < 0.001). In serum levels of immunoglobulins, there were significant differences for IgG and IgM between the two groups (P of 0.014 and 0.004, respectively); however, this was not seen for IgA and IgE levels. Likewise, we did not see any significant differences for the cluster of differentiation (CD) markers between the two groups (all P > 0.05).

Compared to the CVID patients with no identified genetic mutations, LRBA-deficient patients have a significantly greater chance of parental consanguinity and developing autoimmune disorders and enteropathy, and have significantly higher values of serum IgG and IgM. The rate of infectious complications and other basic laboratory features, do not show significant differences between the two groups.

Congenital agammaglobulinemia is an inborn error of immunity, resulting in the impairment of effective antibody production. Agammaglobulinemia may be due to X-linked or autosomal genetic abnormalities. The primary defect in X-Linked agammaglobulinemia (XLA) and autosomal recessive agammaglobulinemia (ARAG) is the B cell precursors’ failure to mature B-lymphocytes and, ultimately, plasma cells. This study aims to evaluate the differences in clinical and paraclinical characteristics of XLA and ARAG patients.

A total of 58 patients were enrolled in this retrospective study. The data were extracted from the Iranian primary immunodeficiency registry (IPIDR). Forty-eight of the patients were diagnosed with XLA, while the other ten were diagnosed with ARAG. Measures including demographic data, clinical manifestations, and laboratory data of the patients were compared between the groups.

Patients with ARAG, presented manifestations at an earlier age and had a lower diagnosis delay compared to XLA patients. However, the mortality rate was not significantly affected. The pattern of organ involvement also differed between the two groups, as patients with ARAG showed manifestations that are more chronic in nature (e.g., autoimmunity, lymphoproliferation, and allergy). In contrast, XLA patients were more prone to infections and other associated complications (e.g., meningitis, sinusitis, diarrhea, and bronchiectasis). Meningitis was exclusively observed in the XLA group. The number of CD19+ B cells was significantly higher in the ARAG group (P=0.002), While the level of IgM was significantly higher in the XLA group (P=0.045).

Identifying the clinical presentations of XLA and ARAG, may assist clinicians in early diagnosis in the setting of limited available genetic studies.

Leukocyte Adhesion Deficiency (LAD) is a rare, inherited, immunodeficiency disease which is caused by defects in the leukocyte adhesion process. The migration of leukocytes to the blood vessel’s wall, needs multiple steps called adhesion cascade. In LAD, defects in rolling, integrin activation and firm adhesion of the leukocytes have been described.

In this study, we selected 67 patients with the confirmed diagnosis of LADs, from Iranian immunodeficiency registry center. A demographic information of the clinical complications and laboratory data were obtained from all the patients to evaluate the clinical manifestations.

A total of 67 patients (38 male and 29 female), with a median age of 18 months old, were included in the present study. The first presentations were omphalitis in 28.35% of the cases, followed by delayed umbilical cord separation in 22.38% of the patients. The frequency of delayed umbilical cord separation was 41.8%, and was higher among other manifestations of our patients. Cellulitis and Omphalitis were observed in 40.3% and 38.8% of the patients, respectively. Regarding the laboratory findings, we found leukocytosis in 86.6 %( neutrophil dominant in 76.1%), and anemia in 77.6%, and thrombocytosis in 25.4% of the patients.

We indicated in the present study that the most common clinical manifestations, were delayed umbilical cord separation and recurrent infection in Iranian patients with LAD disorders. In laboratory findings, we found leukocytosis in most of the patients. CD18 was decreased in more than 90 % of the patients.

Chronic lymphocytic leukemia (CLL) is one of the most common hematological malignancies. In patients with CLL, serum immunoglobulin levels decrease over time due to both the disease itself and the chemo-immunotherapeutic agents used. It was aimed to reveal the relationship between hypogammaglobulinemia and disease stage, and chemo-immunotherapies.

Data were obtained by retrospectively examining 74 patients who were followed-up between 2008-2019. The relationship between all parameters (demographic characteristics, RAI stages or therapy subtypes) and serum IgG levels was analyzed.

Thirty-two of 74 patients received a therapy. Twenty-two patients were on combined therapy with rituximab or only rituximab and 10 were treated with chemotherapeutic agents only. The frequency of hypogammaglobulinemia was 5.4% at the diagnosis, this rate was 55% in patients receiving a therapy. Hypogammaglobulinemia was higher in advanced stages. In patients with rituximab, higher levels of IgG decrease were observed.

Serum IgG level was significantly lower in patients with advanced-stage, received chemotherapy, especially rituximab. In addition to basal IgG, immunoglobulin levels should be checked during treatment, and follow-up period. Early replacement intravenous immunoglobulins will be important to reduce severe infection attacks due to secondary immunodeficiency.

X-Linked Agammaglobulinemia (XLA) is a primary immunodeficiency disease, characterized by severe hypogammaglobulinemia and the low numbers of peripheral B cells. Neutropenia is a rare complication among the XLA patients, which may lead to a higher rate of infections and morbidity. The aim of the authors is to assess the correctness of this issue.

In this study, we compared demographic, clinical and laboratorial data between two groups of XLA patients, with and without neutropenia.

Frequency of neutropenia was 15% in our population. Infectious complications were the most prevalent clinical manifestations, regardless of the presence of neutropenia. However, Lymphoproliferative complication was significantly higher in the neutropenic patients (p = 0.001). No significant difference in mortality rate was observed between the groups.

Neutropenia is a rare complication among the XLA patients, and significantly decreases the mean age of XLA diagnosis in the patients. But it is not related to the higher frequency of infectious diseases in the neutropenic patients compared to non-neutropenic ones.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. In different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we report a one-year-old male child with an upper respiratory infection and retropharyngeal abscess as first clinical manifestation.

Increased susceptibility to autoimmunity, malignancy, and allergy in addition to recurrent infections are the main characteristics suggesting for the primary immunodeficiency diseases (PID). CTLA-4 is predominantly expressed on activated and regulatory T-cells, which can bind to CD80/CD86 molecules on antigen-presenting cells as a negative regulator. Here, we describe a 24-year-old male born from consanguineous parents with heterozygous CTLA-4 mutation who presented with multiple autoimmune diseases. His past clinical history revealed alopecia areata atfour years old and subsequently, he developed Evans syndrome, type 1 diabetes mellitus, hypothyroidism, and chronic diarrhea while chronic rhinosinusitis and cytomegalovirus (CMV) colitis were the only infectious manifestations. Immunologic investigations revealed: low B cell count, abnormal Lymphocyte transformation test (LTT) to phytohemagglutinin (PHA), and hypogammaglobulinemia. Although all available treatments such as Intravenous Immunoglobulin (IVIG) therapy, immunosuppressive drugs, and antibiotic therapy were applied, diarrhea was not controlled due to colitis, which remained challenging. Whole exome sequencing was performed and the result showed heterozygous variant CHR2.204,735,635 G>A in the CTLA-4 gene, which was confirmed by the Sanger method. CTLA4 haploinsufficiency leads to autoimmune disorders, recurrent respiratory infections, hypogammaglobulinemia, lymphoproliferation with organ infiltration, and lymphocytic interstitial lung disease.

Griscelli syndrome (GS) is a rare autosomal recessive disease that affects hair, skin, and immune system. Here, we describe an 8.5-month-old infant with multiple admissions due to fever, petechial purpura, and several recurrent vomiting episodes with a presumptive diagnosis of recurrent sepsis. He was born from parents with consanguineous marriage. The initial examinations revealed huge splenomegaly and hepatomegaly without any source of infection. Laboratory tests revealed a hemophagocytic lymphohistiocytosis (HLH) like a picture with a high blood level of ferritin in all episodes, but the bone marrow test result was normal. Although he had normal hair and skin pigmentation on physical examination, the accumulation of melanosomes was found in his hair shafts on microscopic investigations. Eventually, a genetic test revealed a mutation in the RAB27A gene, which confirmed GS-II diagnosis. Our case is the first case of GS-II from Iran without any apparent clinical features of GS, such as hypopigmented skin and silvery-gray hair. Therefore, a genetic test, together with the microscopic examination of hair and skin, is necessary for the diagnosis and confirmation of GS-II. Since GS-II is an autosomal recessive disorder and consanguineous marriages are popular in Iran, premarital genetic counseling is recommended for this region.