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Introduction The prevalence of undiagnosed primary immunodeficiency diseases is remarkably high and contributes to increasing the rate of morbidity and mortality among this group of patients. Objective To examine the 10 warning sign scoring system in patients suspected of primary immune deficiency and also estimate the diagnostic delay in patients with proven disease. Methods This descriptive cross-sectional study was carried out during the years 2015–2016 in Ali Asghar (AS) Clinic and Hospital. Two hundred patients with suspected primary immune deficiency disease were eligible for inclusion in the study. Multivariable logistic regression analysis was used to determine the relation between findings. Results In this study, the majority of suspected cases of immunodeficiency were males (57%) with a mean age of 3.33 ± 2.89 years. Twenty-one (10.5%) patients were diagnosed with immunodeficiency disease. The mean diagnostic delay among primary immune deficient patients was 2.05 ± 1.7 years. There was a significant relationship between having parental consanguinity (OR = 2.68, 95% CI: 1.07–6.70), allergies (OR = 5.03, 95% CI: 1.13–22.31), vaccine adverse effects (OR = 9.31, 95% CI: 1.24–69.96) and primary immune deficiency diagnosis. No association was observed between age (OR = 0.98, 95% CI: 0.84–1.14), gender (OR = 0.99, 95% CI: 0.39–2.47), immune deficiency scoring (OR = 0.68, 95% CI: 0.31–1.45) and primary immune deficiency diagnosis. Conclusion Ten warning sign scoring system is of less value to consider a patient suspected of having primary immune deficiency. There is a meaningful delay in diagnosis of primary immune deficiencies especially in antibody deficiency defects which seeks further upgrading of knowledge in physicians.

t- 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.

Background Common variable immune deficiency (CVID) is a heterogeneous syndrome with a wide variety of signs and symptoms. This study describes the phenotyping and survival of the CVID patients in the allergy and clinical immunology department of Rasol-E-Akram Hospital of Iran University of Medical Sciences in Tehran. Method We retrospectively reviewed hospital files of CVID patients in our department until January 2014. All patients were diagnosed with standard diagnostic criteria of CVID, treated and visited monthly, during the follow-up period. We divided the patients into four phenotypes; infection only, cytopenia, polyclonal lymphocytic infiltration and unexplained enteropathy. The immunologic, demographic and clinical findings in different phenotypes were analysed. Results The study included 47 CVID patients with mean age at onset of symptoms and diagnosis of 11.2 and 20.2 years, respectively. Phenotyping of our patients was: only infection (62%), cytopenia (26%) and PLI (19%) and 94% of cases had only one phenotype. We did not find a significant relation between the clinical phenotypes and immunologic or demographic data. Rate of parental consanguinity in our cases was 47%. Parental consanguinity was related to lower age at onset, lower age at diagnosis and higher baseline IgG levels. Patients with malignancy and autoimmunity had significantly higher age at onset. Our patients were followed-up for 6.9 years and the mortality rate during this time was 6%. Conclusions Parental consanguinity and age at onset of CVID symptoms may have important roles in CVID manifestations.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.

Background This study was performed to investigate the serum level of interleukin (IL)-13, IL-4, and interferon (IFN)-γ in chronic rhinosinusitis with nasal polyps (CRSwNP) and subsequent inflammation pattern and comorbidities including asthma and aspirin intolerance. Methods A case–control study was conducted on 60 adult patients with CRSwNP with mean age of 37.7 ± 12.7 (ranging from 18 to 70) years, and on 20 healthy controls. Serum levels of IL-13, IL-4, and IFN-γ were assessed, using enzyme-linked immunosorbent assay to be compared between case and control groups. Serum level of total immunoglobulin (Ig) E was also assessed in the patients with CRSwNP. Results Serum level of IL-13 in the patients with CRSwNP was significantly higher than the controls (0.98 ± 1.56 vs. 0.34 ± 0.16 pg/ml, respectively, p = 0.002). IL-4 and IFN-γ did not differ significantly between the two groups. Total IgE level was significantly increased in the patients with CRSwNP, compared to the normal values (301.43 ± 516.54 IU/ml, p = 0.033). Among the patients with CRSwNP, 12/60 (20%) had aspirin intolerance and 44/60 (73.3%) had asthma. IgE was also higher in asthmatics than non-asthmatics patients (364.9 ± 586.6 vs. 126.7 ± 135.7, respectively, p = 0.015). Patients with aspirin intolerance had higher levels of IFN-γ (4.7 ± 1.4 vs. 4.1 ± 0.6, respectively, p = 0.022). Conclusions IL-13 with high level of total IgE was observed in the patients with CRSwNP, which predisposes them to have concomitant asthma. IFN-γ seems to be down-regulated in the patients with CRSwNP, but could be over-expressed in the presence of aspirin intolerance.

Background Aspirin-exacerbated respiratory disease (AERD) is a syndrome frequently seen in patients with chronic rhinosinusitis and nasal polyposis (CRSwNP). However, there are few studies on evaluating the prevalence of aspirin (acetylsalicylic acid [ASA]) hypersensitivity in patients with CRSwNP using the oral aspirin challenge (OAC) test. This cross-sectional study was designed to determine the frequency of ASA hypersensitivity and factors associated with it in patients with CRSwNP in Tehran, Iran. Methods Adult patients with CRSwNP who were presented to the asthma and allergy clinic were recruited for the study. After confirming CRS and NP, OAC was performed to evaluate/confirm the diagnosis of ASA hypersensitivity. Atopic evaluation was performed using skin-prick test, nasal smear, blood eosinophil count, and serum total IgE. Results Eighty Iranian patients (43 women and 37 men) with CRSwNP were enrolled (mean age, 38.9 ± 10.7 years). OAC was performed in all of the patients and 39 patients (48.8%) had a positive reaction; among them, 14 (35.8%) had a self-reported history of ASA hypersensitivity. Concomitant asthma, previous polyp surgery, high polyp score, and ASA hypersensitivity history were all associated with positive OAC (p < 0.05). Presence of AERD was not associated with age, stage of asthma, blood eosinophilia, nasal smear eosinophilia, and atopy. Conclusion ASA hypersensitivity is common in patients with CRSwNP in Tehran, Iran. Patients at risk for AERD should be evaluated for the presence of ASA hypersensitivity with ASA provocation challenge test to confirm the diagnosis.

Background Primary antibody deficiencies (PADs) are heterogeneous group of disorders, characterized by hypogammaglobulinemia and increased susceptibility to recurrent infections. To evaluate the diagnostic delay in Iranian PADs in association with their infections, we scored such manifestations to find an association between such delay and the scoring system. Methods Forty-eight patients with PADs, who were referred to our center during a 25-year period, were enrolled in this study. Each episode of infection, before making the PADs diagnosis, got a score of 5 or 10 based on the severity of infections. Results The diagnosis was made with median delay of 34.5 months, when the patients had mean score of 94.48 ± 52.89. There was a significant direct association between this scoring system and delay diagnosis. The score of 50 was considered as the cutoff point in our patient group. In this score, the suspicions to PADs in more than 90% of patients true positively lead to diagnosis of PADs. Conclusion Although diagnosis delay significantly decreased over time, PADs still continue to be diagnosed late. Based on the results of this study, the assessment of immune system should be performed in the patients with 50 total score or about 25 score per year.

Background Aspirin (ASA) hypersensitivity is frequent in patients with chronic rhinosinusitis and nasal polyps (CRSwNP), which is called aspirin exacerbated respiratory disease (AERD). However, there are few studies on evaluating the prevalence of ASA hypersensitivity in patients with nasal polyps (NPs), using the oral aspirin challenge test. This study was designed to determine the frequency of ASA hypersensitivity and factors associated with ASA hypersensitivity in patients with CRSwNP. Methods Eighty Iranian patients (43 women and 37 men) with CRSwNP were enrolled in this study. Extension of NPs was evaluated by endoscopic examination. A single day, oral aspirin challenge (OAC) was used to detect ASA hypersensitivity. Atopic evaluation was performed, using skin prick test, nasal smear, blood eosinophil count, and serum total IgE. Results