This study aims to investigate the role of prenatal diagnosis (PND) in Iranian couples with a previous history of primary immunodeficiency disorders (PIDD) in their family. All referred couples with a family history of PIDD and a tendency for PND were included in this project. Based on gestational age, chorionic villus sampling (CVS) was performed to analyze the molecular defect of the fetus according to the previous gene defect of the affected case in the family. Postnatal confirmation was performed by immunological screening tests. In a total of 100 cases, CVS was not evaluated in 19 patients due to unwillingness (n=5), late prenatal referral (n=7), miscarriage before CVS (n=3), and female fetus with x-linked diseases in previous children (n=4). In the remaining 81 patients, heterozygous and homozygous mutations were found in 33 and 23 cases, respectively. The hemizygous mutation was obtained in 6 and no pathogenic mutations were found in 19 individuals. Postnatal evaluations revealed that a total of 65 babies were healthy, 32 fetuses were aborted (3 cases before CVS, 2 spontaneous abortions of a healthy and as affected fetus in the CVS subgroup, and 27 cases were aborted due to therapeutic causes). One fetus from the heterozygous subgroup was spontaneously aborted with severe combined immunodeficiency (SCID) and one fetus from the homozygous subgroup that was supposed to be healthy was affected by the autosomal dominant-chronic granulomatous disease (AR-CGD). The diagnostic error was 1.2%. PND is highly recommended in families with a history of PID in their previous child to prevent an affected baby being born and to reduce the government, family, and personal burden of these diseases.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder more common in autosomal recessive (AR) than X-linked in Iran. This study aimed to assess whether having a child with AR-CGD would increase the likelihood of the next child being affected by CGD. Ninety-one families with at least one child affected by AR-CGD entered this study. Out of the 270 children, 128 were affected by AR-CGD. We used a cross tab for the odds ratio (OR) calculation, in which exposure to a previously affected child and the next child’s status were evaluated. This study illustrated that the chances of having another child afflicted with AR-CGD are significantly increased if the previous child had AR-CGD (OR=2.77, 95% CI=1.35-5.69). Although AR disorders affect 25% of each pregnancy, we showed that the chance that the next child would be affected by CGD, given that the previous child was affected, is 2.77 times greater than in families with a normal child. It is recommended to warn families with one or more affected children to evaluate the risk of CGD in their subsequent pregnancies with prenatal diagnosis.
Background: Combined immunodeficiency (CID) is characterized by profound defects in the development and function of both B and T cells. We aimed to investigate clinical and immunological phenotype in CID patients with and without pulmonary complications.Methods: This retrospective study was performed on patients with established diagnosis of CID registered between 2009 and 2020, who had available thoracic computed tomography scan in their medical records. Patients were divided into two groups based on the development of pulmonary complications, and their demographic, clinical, and laboratory characteristics were compared. All data were analyzed by SPSS software, and a P-value < 0.05 was considered as a significant difference.Results: 53 patients [56.6% male and 43.4% females] were enrolled in the study and divided into two groups of patients with (n = 43) and without (n = 10) pulmonary abnormality in the HRCT. In patients with pulmonary complications, skin lesions, failure to thrive, and autoimmunity, were three top high provenances, and anemia was significantly presented in patients with complicated HRCT. Findings of thoracic high resolution computed topographies (HRCTs) included pneumonia (n = 15, 28.3%), bronchiectasis (n = 10, 18.9%), pulmonary nodules (n = 1, 1.9%), atelectasis (n = 2, 3.8%), interstitial lung disease (n = 2, 3.8%). Dead patients had significantly lower level of platelet (183000 cell/µL, P-value = 0.031), IgG (501 mg/dl, P-value = 0.037) and IgE (1.5 IU/ml, P-value = 0.046) compare to alive patients. The mortality rate was higher in patients with pulmonary complications compared to the other group (18.9% vs. 1.9%, p = 0.667).Conclusion: Respiratory disorders in CID are common and require early periodic monitoring by respiratory tests and HRCT to avoid irreversible injuries.
Purpose: Combined immunodeficiency (CID) is characterized by profound defects in the development and function of both B and T cells. We aimed to investigate clinical and immunological phenotype in CID patients with and without pulmonary complications.Methods: This retrospective study was performed on patients with established diagnosis of CID registered between 2009 and 2020. Patients were divided into two groups based on the development of pulmonary complications, and their demographic, clinical, and laboratory characteristics were compared. All data were analyzed by SPSS software, and a P-value <0.05 was considered as a significant difference.Results: 146 patients [56.8% male and 43.2% females] were enrolled in the study and divided into two groups of patients with (n=88) and without (n=58) pulmonary complications. In patients with pulmonary complications, oral candidiasis, failure to thrive, and otitis media, while in the other group, anemia, autoimmunity, rheumatologic disorders, and skin lesions had higher frequency, although not significant. Thoracic high resolution computed tomographies (HRCTs), available in 54.5% of patients with pulmonary complications, were compatible with pneumonia (39.8%), bronchiectasis (12.5%), pulmonary nodules (3.4%), atelectasis (1.1%), interstitial lung disease (1.1%), and pneumothorax (1.1%). Patients with pulmonary complications had lower number of T CD4+ but higher levels of CD8+ cells compared to patients without pulmonary complications (p=0.012 and p=0.005, respectively). The mortality rate was higher in patients with pulmonary complications compared to the other group (11.4% vs. 6.9%, p=0.597).Conclusion: Respiratory disorders in CID are common and require early periodic monitoring by respiratory tests and HRCT to avoid irreversible injuries.
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