Vol 3, No 1 (2020)

Review Article

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    CVID represents the most frequent symptomatic primary humoral immunodeficiency. Clinical presentation includes hypogammaglobulinemia, recurrent infections, autoimmune phaenomena and increased lymphoma and cancer risk. While the first cases were reported in the early 50’s, the first genetic cause of CVID was described after 5 decades. After the first description, and also thanks to the advances in the field of biomedical research, several additional genetic causes of CVID have been described. The current genetic landscape of CVID includes numerous genetic alterations that may cause or contribute to the development of CVID, underscoring the complexity and heterogeneity of this disorder.

Original Article

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    Background/objectives: Hyper IgM (HIGM) syndrome is a rare kind of primary Immunodeficiency disease (PID) characterized by normal to the increased serum IgM and very low or undetectable IgG, IgA, and IgE. Broad spectrum of clinical manifestations and laboratory findings are observed in the HIGM patients including hematologic problem and malignancy. This study was conducted to assess demographic data, clinical manifestation, and immunological findings in the HIGM patients.
    Methods: Lab findings and clinical presentations data of 79 Iranian patients diagnosed with HIgM syndrome were collected. All the patients were classified into two different groups including the patients with hematological problems and those without hematological problems.
    Results: Hematologic problems were observed in 34 patients (43%, 23 males and 11 females). The most common hematologic problems types were anemia and leukemia (33 and 25%, respectively). Also, 19 patients (24.1%) had a family history of PID. Significant data that were higher in the patients with hematologic problems, were the oral ulcer (p=0.037), failure to thrive (p=0.022), recurrent diarrhoea (p=0.021), chronic diarrhoea (p=0.022), urinary tract infections (p=0.037), anemia (p=0.000), neutropenia (p=0.000), thrombocytopenia (p=0.001), gastrointestinal problem (p=0.011), neurologic problem (p=0.000), multiple site problem (p=0.000), platelet count (p=0.005), and IgG level (p=0.048).
    Conclusion: The association between HIgM syndrome and hematologic problems could lead to severe clinical disorders. Therefore, it is necessary for immunologists to be aware of these situations.

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    Background/objectives: AT is an autosomal recessive primary immunodeficiency (PID) disease with multisystem involvement caused by biallelic mutations in the ataxia telangiectasia mutated (ATM) gene. The patients with AT represent a broad range of clinical manifestations including progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and susceptibility to malignancies. We aimed to determine different clinical features of the AT patients to identify their key diagnostic or prognostic characteristics.
    Methods: In the present study, 120 patients with the confirmed diagnosis of AT were enrolled from Iranian immunodeficiency registry center. A demographic information, clinical complications, and laboratory data were obtained from all the patients to evaluate the clinical manifestations.
    Results: In this study, we found that in the AT patients, the frequency of total infection, respiratory infection, gastrointestinal infection, urinary tract infection, chronic fever, lymphadenopathy, and hepatosplenomegaly were 83.3%, 68.3%, 18%, 6.7%, 26.7%, 7.5%, and 20%, respectively.
    Conclusion: The AT patients present different types of infections and noninfectious complications; therefore, early detection and careful management is necessary for these patients.

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      CVID is a common primary immunodeficiency disease defined by a failure in B cell differentiation and impaired immunoglobulin production. Subsequently CVID patients are remarkably susceptible to recurrent and multiple infections with bacterial, viral or fungal agents. In the present study, we aimed to provide an update report on different infectious complications of patients with CVID in Iran.
    Methods: Demographic, clinical and immunologic data as well as history of infections with related microbial pathogens were obtained from records of patients diagnosed with CVID and followed up at Children’s Medical Center. Based on presence of meningitis, osteomyelitis and sepsis, 2 groups of severe infections and non-severe infections were defined for further investigations.
    Results: Among the enrolled 301 CVID patients, 15 (5%) had severe and 286 (95%) had non-severe infections. Respiratory followed by gastrointestinal tract problems (83.1 and 71.4%, respectively) were the most common involved organs. Among the infectious complications, lower and upper respiratory tract infection, followed by mucocutaneous and gastrointestinal tract were the most frequent (76.1, 64.8, 21.6 and 19.6%, respectively). Candida followed by Giardia lamblia were the most common detected pathogens, respectively in those with opportunistic infections and infectious diarrhea.
    Conclusion: Recurrent infections of various parts of body are the most prevalent manifestation among patients with CVID playing an important role in the morbidity and even mortality in those with prolonged and untreated infections. Recurrent infections initiating early in childhood should be paid attention and trigger further immunological work up for a possible underlying immunodeficiency especially in families with consanguineous marriage and/or a positive family history of primary immunodeficiency.
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    Background/objectives: SIgAD is the most frequent of the primary antibody deficiencies. Patients with IgAD can be either symptomatic or asymptomatic. Symptomatic patients suffer from a wide range of manifestations including allergy, malignancy, and autoimmunity. The prevalence of allergic diseases is assumed to be increased in IgAD patients. In this study, we aimed to evaluate the frequency of allergic disorders in IgAD patients as well as a comparison between these patients and IgA deficient patients without allergy.
    Methods: The present cohort study included 166 IgAD patients who were diagnosed at the Research Center for immunodeficiencies in children's medical Center. To compare clinical data and laboratory records, all IgAD patients were classified into two groups as follows: patients with allergic diseases and patients without allergic diseases.
    Results: Among 166 patients with IgA deficiency, allergy was seen in 33 patients (19.8%). In this study, respiratory tract infections were the most common clinical presentation in all patients (47.6%). Among the infectious manifestations, pneumonia and sinusitis were significantly higher in patients with allergy compared with patients without allergy (respectively 48.5% vs 26.3%; p = 0.013, 48.5% vs 20.3%; p = 0.001). Based on the laboratory data, the number of platelet and B cells (CD20+) were significantly higher in patients with allergy in comparison to patients without allergy (respectively, p = 0.025, p = 0.44).
    Conclusion: The relation between IgAD disease and allergy could lead to severe clinical complications. Thus, these allergy disorders should be considered as an important feature for suitable management and enhancing the life quality in patients with IgAD.

Case Report

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    Chronic granulomatous disease (CGD) is an innate immunodeficiency characterized by an increased susceptibility to recurrent infections and granulomatous inflammation. CGD results from the loss of phagocyte superoxide production caused by a failure of the reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme. It is caused by recessive mutations in any of four genes that encode subunits of the NADPH oxidase. The most common autosomal recessive form of CGD is p47phox encoded by the NCF1 gene which is clinically milder. In this case study, we report a boy with lung abscess and recurrent oral thrush presentations. Whole exome sequencing (WES) test was performed to identify the underlying genetic mutation in this patient. WES of the patient reported a homozygous deletion mutation in the NCF1 gene (NM_608512: exon2: c.75_76delGT). Our data shows that early detection of NCF1 mutation has a wide heterogeneity in clinical manifestations of the patients.