ABSTRACT
BACKGROUND: The role of SARS-CoV-2 as the cause of chilblains in children remains a matter of debate but it is important to elucidate it for patient isolation and contact tracing. We sought to define the etiology, clinical presentation, time course, and outcomes of children presenting to the emergency department (ED) with cutaneous manifestations shortly after the first pandemic peak of COVID-19 in Spain. METHODS: A prospective, observational study in children <15 years of age evaluated for skin lesions in the EDs of three pediatric hospitals. Children underwent a comprehensive work-up including tests for SARS-CoV-2 antibodies and polymerase chain reaction (PCR), and serology and PCR tests for other viruses and bacteria. A 1 month follow-up visit was conducted. RESULTS: From April 14 through May 8, 2020, we enrolled 62 children. Of those, 34 had acro-ischemic skin lesions and 28 had a variety of skin rashes. Overall, 40% of children had mild systemic symptoms. Children with chilblains were older, had pain more frequently and a more prolonged duration of skin lesions, while those with non-specific rashes had fever more frequently. Lesions were resolved in 75% of children at follow up. Five patients demonstrated SARS-CoV-2 antibodies, and none tested positive with PCR. Three additional patients tested positive with PCR for rhinovirus, Mycoplasma pneumoniae and Chlamydia pneumoniae. CONCLUSIONS: The number of ED visits for chilblains, which are rare in pediatrics, was high soon after the first peak of COVID-19 in Spain. The disease course was self-limited, outcomes were favorable, and the possibility of viral transmission was negligible as all patients tested negative for SARS-CoV-2 by PCR.
Subject(s)
COVID-19 , Pandemics , Child , Emergency Service, Hospital , Humans , Prospective Studies , SARS-CoV-2ABSTRACT
Severe combined immunodeficiency is an inherited disease with profoundly defective T cells, B cells, and natural killer cells. X-linked severe combined immunodeficiency is the most common form. In this report, we describe a 4-month-old male infant who was admitted to our hospital with progressive breathlessness and abdominal mass. He was diagnosed with hepatoblastoma and presented a pneumocystis jirovecii pneumonia at the beginning of chemotherapy. Definitive diagnosis of X-linked severe combined immunodeficiency was established by DNA analysis of the interleukin 2 receptor gamma chain gene. This case is the first report which describes an X-linked severe combined immunodeficiency patient with hepatoblastoma.
Subject(s)
Hepatoblastoma , Liver Neoplasms , Pneumocystis carinii , Pneumonia, Pneumocystis , X-Linked Combined Immunodeficiency Diseases , Hepatoblastoma/diagnosis , Hepatoblastoma/drug therapy , Humans , Infant , Liver Neoplasms/diagnosis , Liver Neoplasms/drug therapy , Male , Pneumonia, Pneumocystis/diagnosis , Pneumonia, Pneumocystis/drug therapy , X-Linked Combined Immunodeficiency Diseases/diagnosis , X-Linked Combined Immunodeficiency Diseases/drug therapyABSTRACT
BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency characterized by chronic lymphoproliferation, autoimmune manifestations, expansion of double-negative T-cells, and susceptibility to malignancies. Most cases of ALPS are caused by germline or somatic FAS mutations. We report the case of an ALPS patient due to a novel homozygous Fasligand gene mutation (ALPS-FASLG). METHODS: ALPS biomarkers were measured and FASLG mutation was identified. Functional characterization was carried out based on activation-induced cell death (AICD) and cytotoxicity assays. RESULTS: This report describes the cases of a patient who presented a severe form of ALPS-FASLG, and his brother who had died due to complications related to ALPS. Moreover, in another family, we present the first case of lymphoma in a patient with ALPS-FASLG. Functional studies showed defective Fasligand-mediated apoptosis, cytotoxicity, and AICD in T-cell blasts. Otherwise, expression of the FASLG gene and corresponding protein was normal, but the shedding of the Fasligand was impaired in T-cells. Additionally, analyzing Epstein-Barr virus (EBV)-transformed B-cells, our results indicate impaired AICD in ALPS-FASLG patients. CONCLUSION: Patients with autosomal recessive inheritance of ALPS-FASLG have a severe phenotype and a partial defect in AICD in T- and B-cell lines. The Fasligand could play a key role in immune surveillance preventing malignancy.
