Severe combined immunodeficiencies

Severe Combined Immunodeficiencies (SCID) are a group of childhood diseases with a very serious prognosis. They occur with a frequency of 1 in 40–100,000 children under one year of age. Early diagnosis is the main prognostic factor for the success of therapy. If left untreated, it is fatal. Causal treatment is haematopoietic stem cell transplan-tation. Since January 2022, a pilot newborns screening project for SCID has been running in the Czech Republic. This article presents case reports of two patients with SCID diagnosed in our department in 2021. The first is an 8-month-old boy hospitalized for bilateral pneumonia with respiratory insufficiency. Pneumocystis jiroveci was iden-tified as the causative agent. The condition was preceded by a period of failure to thrive and laboratory findings of lymphopenia. Additional immunological examination revealed severe hypogammaglobulinemia with impaired specific antibody production and T lymphopenia with low activation tests. Genetic testing revealed an X-linked form of SCID (defect in the IL2 receptor gene;c.925-13>G). The boy was subsequently successfully transplanted. Second case report of a 2-month-old girl hospitalized for severe infection with concurrent SARS-CoV-2 positivity with fatal outcome. Post mortem findings were generalized CMV infection, severe thymic dysplasia with absence of T lymphocytes. The cause was determined to be an autosomal recessive form of SCID with mutation of the IL7 receptor gene (biallelic defect NM_002185.5: c.132C >A, p. Ser44Arg, a c.514delG, p. Glu172Lysfs*10). © 2023, Czech Medical Association J.E. Purkyne. All rights reserved.

The Relationship Between the Presence of Severe Acute Respiratory Syndrome-Coronavirus-2 during Pregnancy and Neonatal Hearing Loss

Introduction: In this study, we investigated the maternal severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection's effect on newborn hearing loss. Methods: Thirty-nine newborns whose mother's SARS-CoV-2 real time-polymerase chain reaction test was positive at the time of parturition were included in this study. Another 39 newborns who were born from healthy pregnancies were selected as the control group. Neonates with risk factors for hearing loss determined by the American Academy of Pediatrics Joint Committee on Infant Hearing 2007 and those with ear pathology were excluded. The newborn hearing screening was done with auditory brainstem response (ABR) test. Second ABR test (ABR-2) was performed on newborns who failed the 1st test (ABR-1). The third ABR test (ABR-3) was performed on newborns who failed the second ABR test (ABR-2). The screening results were analyzed statistically. Results: In the control group, a total of 6 (15.4%) newborns failed ABR-1, five newborns in one ear (3 right, 2 left), and one newborn in both ears. In the study group, a total of 14 (35.9%) newborns failed ABR-1, 11 newborns from both ears and 3 (2 right, 1 left) newborns from one ear. ABR-1 results were significantly worse in the study group's neonates (p=0.038). In addition, the rate of involvement of both ears was higher in the study group (p=0.018;p<0.05). 1 (16.7%) newborn in the control group and 2 (14.3%) newborns in the study group failed the ABR-2 in both ears. There was no statistically significant difference according to the ABR-2 test (p=0.681;p>0.05). All babies passed the ABR-3. Conclusion: There was a significant relationship between neonatal hearing loss and maternal SARS-CoV-2 infection. This hearing loss is usually bilateral and temporary.

Maternal COVID-19 and neonatal hearing loss: a multicentric survey.

PURPOSE: Gestational SARS-Cov-2 infection can impact maternal and neonatal health. The virus has also been reported of causing sensorineural hearing loss. The objective of this study was to determine the possible effect of maternal SARS-COV-2 infection on neonatal hearing as identified during universal hearing screening. METHODS: Retrospective cohort study in two tertiary referral centers including all neonates born from November 2020 through April 1st, 2021 and undergoing the universal hearing screening program. Maternal Covid-19 infection was recorded (timing and severity) and the results of hearing screening of their neonates compared to the incidence of neonatal hearing loss results of the national universal screening program during the same period. RESULTS: A total of 984 neonates were included (508 males and 476 females). Sixty-three neonates were excluded due to comorbidities which could cause hearing loss. The incidence of failed responses in the community at large was 2.3%. Twenty-seven failed both steps of screening (2.9%; p < 0.2). There were 34 Covid-19 positive mothers (17 in the first trimester, 8 in the second and 9 in the third). Twenty-nine neonates failed the first screening (p < 0.00001) but on further testing only one neonate failed (2.9%). CONCLUSION: In this study, neonates born to Covid-19 positive mothers do not seem to have an increased risk of hearing loss. However longer follow-up of these neonates is mandatory to detect any possible delayed effects of the virus.

[Acceptability of neonatal screening of the sickle cell disease during the pandemic of COVID-19 in Kisangani, Democratic Republic of the Congo]. / Acceptabilité du dépistage néonatal de la drépanocytose au cours de la pandémie au COVID-19 à Kisangani, en République Démocratique du Congo.

INTRODUCTION: the implementation of neonatal screening to identify infants with sickle cell disease during the COVID-19 pandemic is a major challenge in the Democratic Republic of the Congo (DRC). The purpose of this study is to determine whether socio-economic factors are associated with acceptability of newborn screening to identify infants with sickle cell disease during the COVID-19 pandemic in Kisangani, DRC. METHODS: we conducted an observational study of mothers sensitized to neonatal screening to detect sickle cell disease in their newborns with hemotypeSCTM (HT401RUO-USA). The study was carried out at the maternity wards in Kisangani from March 21st to June 30th 2020. Collected data were parity, educational level, age, socio-economic level, occupation, awareness and the reason for the denial of screening. RESULTS: out of 55.5% (273/492) of sensitized mothers, 107 (39.19%) accepted and 166 (60.80%) refused neonatal screening to detect sickle cell disease in their newborn. The reasons for refusal were lack of information (67.5%; 95% CI [59.8-74.5]), lack of money due to confinement (66.3%; 95% CI [58.5-73.4]), blood test to develop a vaccine for protection against COVID-19 (63.2%; 95% CI = [55.4-70.6]). Factors associated with the acceptability of screening were age > 35 years (p = 0.0009; ORa = 3.04; 95% CI = 1.57-5.87) and low socio-economic level (p = 0.0016; ORa = 2.29; 95% CI = 1.37-3.85). CONCLUSION: the acceptability of neonatal screening to detect sickle cell disease during COVID-19 is low in Kisangani. The government should identify effective communication channels to promote health care initiatives.