Posts

Showing posts with the label Genetic

G6PD Mutation & Vaccine Complications

Image
A 72-year-old patient presenting with an inguinal mass and a history of asthma and edema, received two doses of the COVID-19 vaccine in 2021. Approximately two weeks after the second dose, he developed a myriad of symptoms, including dyspnea, palpitations, and edema. Despite local clinic treatments, the symptoms worsened, eventually leading to a diagnosis of retroperitoneal dedifferentiated liposarcoma. The diagnostic journey involved chest CT scans, pleural punctures, and biopsies. The patient's unique case posed challenges, with initial treatments providing only temporary relief. The situation escalated, prompting further examinations and a switch to anlotinib treatment.  Three days after discharge, the patient faced a recurrence of symptoms, leading to a critical discovery — a severe G6PD deficiency. This revelation unfolded through whole exome sequencing, shedding light on a genetic predisposition that played a pivotal role in the patient's adverse reactions.  The authors ...

STAT3-mediated adverse events following immunization with an mRNA vaccine

Image
Genetic factors that increase the risk of COVID-19 vaccine-induced adverse events are currently being investigated. A new article is presenting a case of T-LGL, T-cell large granular lymphoma, a rare lymphoproliferative disorder, in a patient who received a COVID-19 mRNA vaccine. The authors analyzed the results of gene sequencing for pathogenic mutations but did not find any known variations associated with T-LGL, particularly not in STAT3 or STAT5b, harboring the most common gain-of-function mutations. However, the article provides evidence that the vaccine induces STAT3 activation through TLR stimulation, which may potentially exacerbate STAT3-dependent diseases. Interestingly, expansion of T cells causing progressive lymphadenopathy following mRNA vaccination has been reported in a patient with angioimmunoblastic T Cell lymphoma, indicating that further investigation is needed to understand the potential genetic and immune-related factors that increase the risk of lymphoma after va...

HLA-A*11 and vaccine-induced thyroiditis

Image
The  human leukocyte antigen  ( HLA ) genes  encode proteins essential for mounting an immune response.  Immune systems of people with specific HLA types may be better or worse at mounting an immune response and generating antibodies to specific proteins.  HLA-A11  (A11) is one of serotypes with 10.8% frequency in worldwide population. It's most  common in East Asia. One of its variations,  HLA-A*11, has been linked with vaccine-induced  subacute thyroiditis (V-SAT) . This rare transient inflammatory thyroid disease is usually associated with pain and tenderness of the gland, as well as generalized somatic symptoms: from anxieties,  difficulty swallowing, changes in appetite,  malaise and fatigue to  complete prostration for weeks or months if left untreated. HLA-A*11:01:01:01 was found to be significantly associated with the severity of COVID-19.   SAT is the most common thyroid dysfunction following SARS-CoV-2 vacc...

Genetic predisposition to long-COVID and long-COVID–like symptoms due to COVID-19 vaccines: a case of a 35-year-old woman

Image
A 35-year-old woman with history of cardiovascular disease presented with shortness of breath, lightheadedness, fatigue, chest pain, and premature ventricular contractions (pericarditis) 3 weeks after her second COVID-19 vaccine.  Some long-COVID–like symptoms  subsided following treatment except for chest pain and fatigue .  3 weeks later, the patient tested positive for SARS-CoV-2 .  Shortly after infection, the patient presented again with chest pain when moving or breathing, joint pain, and dermatitis, symptoms that persisted for 6 months.   Antinuclear antibody (ANA) Immunofluorescence assay screening was positive for autoimmune antibodies. This is in line with our findings about higher probability of breakthrough infections among those with long-COVID-like reactions to COVID-19 vaccines and genetic origins of some adverse reactions.  The patient has a family history of diabetes, high blood pressure, and cardiac cirrhosis. Genetic anal...

Total hair loss after COVID-19 vaccination

Image
  A 23-year-old woman presented to the dermatology clinic with complaint of local hair loss on her scalp a week after receiving the first dose of Oxford/AstraZeneca COVID-19 vaccine (AZD1222) in August 2021. She also reported myalgia following the vaccination, which was relieved by acetaminophen. She had no past medical or family history of alopecia areata (AA) and had not received any medications. A positive pull test demonstrated oval-shaped patchy hair loss with defined borders and no scarring or scaling.   Treatment with betamethasone cream 0.1% and pimecrolimus cream 1% started immediately, but after 3 weeks, the patient returned with total hair loss on the scalp and eyebrows.  A diagnosis of Alopecia Totalis was made for her based on her history and physical characteristics, and treatment with systemic corticosteroid was initiated (oral prednisolone, 300 mg monthly, for 3 months).  Many more cases of males and females between the ages of 15 and 80 losing hair ...

26 year-old male dies of myocarditis four days after receiving his third booster shot

Image
According to the autopsy report and death certificate obtained by  the Defender , for this 26-year-old male "post-Pfizer Covid  vaccination myocarditis has been identified to cause left ventricular dysfunction” that led to his death.  At birth, he was diagnosed with a rare type of blood vessel abnormality inside the brain called Vein of Galen Malformation. This condition could be caused by mutations in  RASA1 gene - i nvolved in numerous physiological processes such as angiogenesis, cell proliferation, and apoptosis ; regulator of immune B cells TGF-β and  EPHB4 involved in cell migration .     He had 13 brain surgeries, endless MRIs, CAT scans, angiograms, pokes, and a final radiation treatment that was a success in eliminating the  arteriovenous malformation (AVM) . He got his first and second doses of Pfizer vaccine as soon as his age group was eligible. He did not have any side effects. Almost 7 months later he received his third shot o...

Long COVID and Adverse Effects of Vaccination in a 31-year-old woman with incontinentia pigmenti

Image
Despite multiple publications, feverishly sprouting Long Covid clinics and  $1.15 billion in federal funding  for the National Institutes of Health to support research, there still remains a lack of comprehensive understanding and  no guidelines regarding the management of this  lingering condition. Patients with certain genetics - like inborn errors of the TLR3- and IRF7-dependent production and amplification of type I IFNs - are prone to both life-threatening COVID-19 pneumonia  and adverse reactions to some vaccines - like yellow fever virus live attenuated vaccine , due to the production of autoantibodies.  This case report describes COVID-19 infection and vaccination adverse effects in a 31-year old woman with genetic condition  Incontinentia pigmenti (IP) . This  Canadian (Caucasian) woman had a severe case of COVID-19 and was hospitalized for oxygen therapy, intravenous antibiotics, and corticosteroids.  On Day 1, she had fatigue and a...

Vaccinated and Boosted 67-year old man with Down syndrome dies from COVID-19 during Omicron Wave

Image
A 67-year-old fully vaccinated and boosted man with Down syndrome (DS) died early February 2022 after he contracted COVID-19. The man spent 12 says in the hospital  and an intensive care unit due to his underlying health  conditions but was brought home and was cared by his family for the last 6 days preceding his death. The  man suffered a stroke 17 years ago.  Individuals with Down syndrome are presumed to be at high risk of severe CoVID-19, due to immune dysregulation and often compromised cardiopulmonary function. DS is caused by the presence of full or partial extra copy of chromosome 21 ( HSA21 ). REFERENCES The Austin American-Statesman, the major daily newspaper for Austin, the capital city of Texas: https://www.statesman.com/story/news/2021/12/21/donor-pays-off-loan-statesman-season-caring-austin-palliative-care-family/8962545002/ https://www.statesman.com/in-depth/news/2021/11/24/austins-judy-silva-brother-down-syndrome-season-for-caring/625450800...

Young COVID-19 vaccine breakthrough fatalities

Image
The clinical course of COVID-19 depends on the complex interaction between genetic and environmental factors which might result in immune hyperactivation or dysregulation. Risk factors for severe outcomes include  cardiovascular and renal diseases, hypertension and diabetes, old age and host genetics.   Several genome-wide association studies  identified candidate genes and non-coding regions associated with the severity of COVID-19 and post-COVID sequelae.   Vaccine effectiveness may fail for individuals with particular genetics and we need more studies and more medical case reports to develop personalized preventative and curative approaches. Until then we can read the news. Valentina Boscardin , an 18 year old Brazilian model  (represented by Ford Models agency) died due to COVID complications despite being fully vaccinated against COVID. She was healthy before falling ill with the virus. Valentina Boscardin Mendes suffered a fatal thrombosis on Sun...