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In CVID, preventing infections becomes key
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In CVID, preventing infections becomes key

Common variable immune deficiency is characterised by low levels of protective antibodies, leading to an increased risk of recurrent infections
CVID, which is characterised by low levels of protective antibodies, can lead to an increased risk of recurrent infections
Amy Johnson was diagnosed with CVID when she was 25 years old

Amy Johnson would not step out of the house during flu season, and would always stay away from crowds, maintaining social distance to stay safe. What became a must for all during the pandemic was a practice that the 38-year-old resident of Kansas City, Missouri, USA, followed throughout. Since childhood, she has been living with common variable immune deficiency (CVID), an immune disorder caused by a gene mutation. She was diagnosed at the age of 25 after falling severely ill.

“CVID is a primary immunodeficiency that occurs due to deficit of protective antibodies or immunoglobulins, leading to an increased risk of bacterial infections,” says Dr Parag Tamhankar, senior consultant medical geneticist from MedGenome Labs, Mumbai. There is also an increased risk of autoimmune diseases and cancer, he says, adding there is a lack of public awareness about CVID.

Living with CVID

Johnson, who earlier worked at corporate marketing sector, recalls the time when she was acutely ill. “I could barely function and wasn’t able to work or socialise. I eventually lost my job. Since my diagnosis, I have periods of extreme fatigue,” says Johnson, who is afraid to plan an outing with anyone as she is unsure of how her health will fare.

Johnson says that whenever she is exposed to an infection, she falls severely ill and ends up in the emergency room. “I was always plagued with respiratory illness and had a history of pneumonia and bronchitis. My respiratory distress would be so bad that I was almost put on a ventilator a few times,” she said.

“I’m still unable to work. I’m often fearful during times like flu season as a result of being immunocompromised. COVID was no less a horror,” says Johnson. “Although I live a full life and stay as active as possible, it’s far from what most would call a ‘normal life’,” she adds.

Infections like COVID could be severe among those with CVID. The mortality and morbidity rates are also higher, said Dr Tamhankar. “While others take three to five days to recover from an infection, it may take weeks for those with CVID as the infection would be severe,” he said.

What causes CVID?

CVID is caused due to mutation in any of 14 particular genes, says Dr Tamhankar. “People with CVID have recurrent illnesses. They will have low levels of immunoglobulin G [IgG], immunoglobulin A [IgA] and immunoglobulin M [IgM] due to defective B cell functioning [a type of white blood cell that produces antibodies],” he said, adding that some people may also have a defect in T cells (a type of white blood cell and core of adaptive immunity).

When there is a defect in the immune system, people also get exposed to repeated infections, of which the most common are bacterial infection in the lungs, gastrointestinal (GI) problems and diarrhea, says Dr Vijayalakshmi Balakrishnan, senior consultant, infectious disease, Kauvery Hospital, Chennai.

A 2020 study  published in Journal of Immunology Research examined the CVID prevalence in 47 countries for the period of 1994 to 2019. It showed that US had 4833 cases in 2019 and India had 14 cases in 1994.

How to identify CVID?

The condition is often diagnosed when people consult a doctor complaining of recurrent pneumonia, sinusitis and recurrent infections, says Dr Balakrishnan. She adds, “The condition is mostly picked up during late childhood or early adulthood, but we have seen cases of people being diagnosed with it after their 30s or 40s. If the variant is minor, the symptoms appear later in life, when it is less severe.”

Johnson recalls that she was diagnosed with CVID when she consulted an allergy physician who screened her immune status. Tests showed that she had deficiency of IgG, IgA and IgM.

“CVID can be diagnosed by assessing factors like infection history and digestive symptoms, with test results showing very low immunoglobulin levels and poor antibody responses to immunisation,” said Dr Tamhankar.

Precautions to be taken

Dr Tamhankar and Dr Balakrishnan recommend the following precautions for people with CVID:

  • Wearing a face mask
  • Maintaining physical distance
  • Maintaining food and water hygiene
  • Ensuring a hygienic workplace
  • Getting jabbed against infections

Treatment

Treatment involves immunoglobulin (antibodies) injections. If the person also suffers from autoimmune complications, then steroids are administered as part of the tailored treatment, says Dr Tamhankar.

He adds that bone marrow transplantation (BMT) can be curative. For BMT, HLA (human leukocyte antigen) typing must match between a donor and a recipient. HLAs act as markers which the immune system uses to recognise which cells belong in your body and which don’t. A donor’s healthy blood stem cells are transplanted to the recipient so as to create new blood cells (including white blood cells) that produce antibodies to fight against infections.

Recalling a case of a 25-year-old painter whom he treated four years ago, Dr Tamhankar said, “He had recurrent pneumonia episodes and was admitted to a hospital. Post several tests and examinations, we learnt he had CVID. It was a known genetic case as his uncle succumbed to it. His younger brother was a match for BMT, which was carried out successfully and now he is completely cured.”

Johnson, who had been receiving immunoglobin infusions at a hospital, has opted for subcutaneous immunoglobulin (SCIG) home infusions (where the medication is injected between the skin and the muscle) since last year.

Johnson loves to lead an active life involving outdoor activities like travelling and jogging. “None of these activities are possible if I’m acutely ill. I make a concentrated effort every single day to live my version of my best life,” she says.

Takeaways

  • CVID occurs due to deficiency of protective antibodies or immunoglobulins, leading to an increased risk of bacterial infections.
  • People with CVID are at increased risk of autoimmune diseases and even cancer.
  • Getting vaccinated is a must to prevent infections.
  • People suffering from the condition must take appropriate measures like wearing face mask, maintaining physical distance and ensuring a hygienic workplace.

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