Background The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. Method The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and nextgeneration sequencing. Results Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

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The purpose of this study was to determine the initial rates of intravenous gamma-globulin treatment (IVIG) failure in Kawasaki disease (KD) and their predisposing factors. This study was a retrospective analysis of the initial response to IVIG (2 g/kg), assessed from the medical reports of all patients admitted to Namazee Hospital pediatric ward, from March 1998 to March 2002, and who fulfilled the criteria for KD. Data were available for 64 patients, 58 of whom (90.6%) became afebrile 48 hours after completion of the initial dose of IVIG (Group I) and six (9.4%) who remained febrile (Group II). Two patients had a prompt response to a second dose of IVIG. In Group I, five patients (8.6%) developed coronary artery disease, seen on echocardiography. In Group II, two patients (33.3%) developed coronary artery disease. No significant difference was found in the prevalence of coronary artery disease between the two groups (p = 0.12), or in age or gender. The rate of initial treatment failure was 9.4% in this cohort of patients, which is comparable with previous reports. No predictive factors such as coronary artery disease, age or gender were found for initial treatment failure in KD.

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<p>This article describes a 9-year-old girl with clinical and laboratory features of Kawasaki disease. On day 7 of her febrile illness, she developed sudden loss of vision in the right eye. Visual acuity was no light perception. Dilated funduscopy showed diffuse intense retinal whitening, narrowing retinal arterioles, and a pale swollen disk&mdash;but no cherry-red spot. These findings suggested ophthalmic artery obstruction. Kawasaki disease can be sight-threatening.</p> <p><cite>J Pediatr Ophthalmol Strabismus</cite> 2007;44:303-304.</p> <h4>AUTHORS</h4> <p>Drs. Farvardin and Sajjadi are from the Department of Ophthalmology and Drs. Kashef, Aleyasin, Nabavizadeh, and Safari are from the Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.</p> <p>Originally submitted May 7, 2005.</p> <p>Accepted for publication September 1, 2005.</p> <p>Address correspondence to Majid Farvardin, MD, Department of Ophthalmology, Khalili Hospital, Shiraz, Iran.</p>

Background Pollen is one of the most common allergens that cause respiratory allergies worldwide. Pollen grains from poplars have been reported as important sources of pollinosis in many countries. Objective The aim of the present study was to determine the molecular and immunochemical characterization of Pop n 2, a novel allergen of Populus nigra (P nigra) pollen extract. Methods In this study, the pollen extract of P nigra was analysed by SDS‐PAGE, and the allergenic profile was determined by IgE immunoblotting and specific ELISA using the sera of twenty allergic patients. The coding sequence of Pop n 2 was cloned and expressed in the Escherichia coli BL21 (DE3) using plasmid the pET‐21b (+). Finally, the expressed recombinant Pop n 2 was purified by affinity chromatography. Results Pop n 2 belongs to the profilin family with a molecular weight of approximately 14 kDa. Pop n 2 is the most IgE‐reactive protein (about 65%) in the P nigra pollen extract. The cDNA sequencing results indicated an open reading frame 396 bp that encodes 131 amino acid residues. The results of ELISA and Immunoblotting assays showed that recombinant Pop n 2 could react with the IgE antibody in patients' sera, like its natural counterpart. Conclusion Our data revealed that Pop n 2 is a significant allergen in the P nigra pollen extract. Moreover, we observed that the recombinant Pop n 2 produced by the pET‐21b (+) vector in the E colisystem acts as its natural counterpart.

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