Droplet digital PCR for identifying copy number variations in patients with primary immunodeficiency disorders

Primary immunodeficiency disorders comprise a rare group of mostly monogenic disorders caused by inborn errors of immunity. The majority can be identified by either Sanger sequencing or Next Generation Sequencing. Some disorders result from large insertions or deletions leading to copy number variations (CNV). Sanger sequencing may not identify these mutations. Here we present droplet digital PCR as an alternative cost-effective diagnostic method to identify CNV in these genes. The data from patients with large deletions of NFKB1, SERPING1 and SH2D1A are presented.

Update: Primary immunodeficiency disorders among north Indian children

Primary immunodeficiency disorders (PIDs) are a group of genetic abnormalities characterized by defectin one or more constituents of the immune system.This group of disorders are largely undiagnosed and unreported worldwide due to lack of awareness among the medical practitioners,parents as well as lack of state of art diagnostic facilities. Earlier we had reported the distribution pattern of various categories of PID in children of north India; in this report we are appending the data with current findings.In this retrospective study we pooled data from PIDs workup of 706 children with suspected PIDs, below the age of 18Yrs, in the period of May 2017 October 2019. The clinical assessment and presentation of these children was suggestive of PID. The peripheral blood of these children was used for flow cytometry based immunophenotyping of immune cells. PIDs were classified according to the International Union of Immunological Societies’ (IUIS) criteria.A total of 133 (18.38%) children were diagnosed with one or other form of PID with overall median age was 3.25 years (male: 2.3 and female: 4.2Yrs). Chronic infection, persistent diarrhea and retarded growth were the common warning signsin these patients. Combined humoral and cellular immunodeficiency was observed in 32%, phagocytic defect in 23%, antibody defect in 17%, dysregulated innate immunity in 19% and other well defined syndromes in 9% of total diagnosed PID children. Around 15.78% of PID cases were seen in coupleswithconsanguineous marriage, past family history of PID in 20.30% and families with sibling death of unknown cause in 24.06%. The cause of death of the sibling was not known. PID diagnosed children received prophylactic antibiotics and/or antifungals in addition tospecific therapy for the underlying immune deficiency.The field of PID remainsunexplored worldwide. The awareness in the developed countries is more than that of developing countries like India. The developing countries face several challenges in the diagnosis of PIDs such as awareness among patients and medical practitioners, mostly in the rural settings, lack of sufficient number of tertiary care centres, lack of equipped immunological laboratory to diagnose the disease.

Vaccination in Patients with Primary Immunodeficiency Disorders

Primary Immunodeficiency Disorders (PID), are heterogeneous groups of an abnormality in innate and adoptive immune systems. Patients with these disorders, are susceptible to life threatening infections. Infection control, is an important strategy for improving the quality of life and prognosis. Prophylaxis, intravenous immunoglobulin and antibiotic therapy for a long period of time, is an appropriate option for many patients with PID. But vaccination in immunocompromised patients may play a significant role and various outcomes. Depending on the type of PID, there are different results after the administration of vaccines in patients. In some cases, immune response is perfect and there is a well protection against the syndromes. On the other hand, in some other patients, immune response is impaired, and the vaccination is ineffective or even could lead to severe overwhelming side effects. To date, there are no well established guidelines about the vaccination of immunocompromised people. In this review, we are going to describe the latest recommendations for the immunization of patients with PID, based on the published literatures.

The Impact of SARS-CoV-2 Transmission Fear and the COVID-19 Pandemic on the Mental Health of Patients with Primary Immunodeficiency Disorders and Severe Asthma, and Other High-Risk Groups

ABSTRACT Objective: The effect of the COVID-19 pandemic on mental health in the long term is unclear. We evaluated severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)–related transmission fear and mental-health disorders in populations at high risk for COVID-19. Materials and Methods: Healthcare workers and patients with primary immunodeficiency disorders (PIDs), severe asthma, malignancy, cardiovascular disease, hypertension, and diabetes mellitus were included in the study. The hospital anxiety and depression scale (HADS) and Fear of Illness and Virus Evaluation (FIVE) scales were applied during face-to-face interviews. Results: There was a total of 560 participants, 80 per group; 306 (55%) were female. The FIVE and HADS-A scale scores of health care workers were significantly higher than the other groups (p = 0.001 and 0.006). The second-highest scores were in patients with PID. There was no significant difference between the groups in HADS-D scores (p = 0.07). There was a significant positive correlation between FIVE scale scores and anxiety (r = 0.828; p < 0.001) and depression (r = 0.660; p < 0.001). The FIVE scale had significant discriminatory power for anxiety (AUC = 0.870, 95% confidence interval [CI] = 0.836–0.904; p < 0.0001) and depression (area under the curve = 0.760, 95% CI = 0.717–0.803; p < 0.0001). Conclusion: During the COVID-19 pandemic, mental-health disorders may develop in patients with comorbidities, especially healthcare workers. They should be referred to mental-health centers. Keywords: Asthma, COVID-19, fear of virus transmission, mental health, primary immunodeficiency