CION Cancer Clinics
GATA2 deficiency: the infections that come before cancer | CION Cancer Clinics
In GATA2 deficiency, infections usually come years before any cancer, and they are often the first sign. Warts that keep spreading, chest or gland infections with germs related to TB, and unusual fungal or viral infections are the typical pattern. This page explains why they happen, which ones point to GATA2, and why in India they are often mistaken for ordinary TB. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
On this page
- Why do infections come before cancer in GATA2 deficiency?
- Which infections point towards GATA2 deficiency?
- How do doctors connect the infections to GATA2?
- What do the words on these reports mean?
- Is it ordinary TB, or an infection that points to GATA2?
- Four things people believe about these infections
- What this page cannot tell you
- Common questions about infections in GATA2 deficiency
The short answer
Why do infections come before cancer in GATA2 deficiency?
Because the immune cells run short first. GATA2 is needed to make monocytes, B cells, natural killer cells and dendritic cells, the cells that recognise and clear certain germs. When one copy of the gene is faulty, these counts can fall years before the marrow shows any sign of cancer.
Which germs take advantage
The germs are the ones these particular cells normally keep in check. Mycobacteria, the family that includes the TB germ, are the classic example. Human papillomavirus, which causes warts, is another. Herpes viruses and some fungi complete the usual list.
Why it is often missed in India
TB is common here, so a lung or gland infection with a mycobacterium is usually treated as TB. When the germ is a non-tuberculous one instead, standard TB medicines may not work. Some people go through several courses before anyone asks for a culture that names the exact germ.
When it is fair to ask the question
Ask about GATA2 if a young person has a mycobacterial infection that turns out not to be TB, warts that cover the hands or feet, or a monocyte count reported as zero or close to it. Ask too if a relative had one of these and later developed a blood cancer.
Most people with repeated infections do not have GATA2 deficiency. The pattern, not one infection, is the clue.Four kinds of infection
Which infections point towards GATA2 deficiency?
Any one of these can happen to anybody. Several together, or one that keeps coming back in a young person, deserves a closer look.
Germs related to TB
Non-tuberculous mycobacteria live in soil and water and rarely trouble healthy people. In GATA2 deficiency they can infect the lungs, glands, skin or bones, and spread through the body.
Often looks like
- Fevers and weight loss that do not settle
- Swollen glands in the neck or elsewhere
- A chest infection that TB medicines do not clear
Warts and HPV
Warts on the hands and feet can spread widely and keep returning. The same virus can cause pre-cancerous changes of the cervix, anus or vulva at a young age, which need regular checks.
Herpes and related viruses
Cold sores, shingles or a glandular-fever type illness can be severe or slow to settle. Infection with the Epstein-Barr virus can be unusually hard for the body to control.
Fungal infections
Moulds such as Aspergillus and yeasts such as Candida can cause chest or mouth infections that are hard to clear. Repeated fungal chest infections deserve a closer look at the immune cells.
Lung trouble with no usual explanation, in a young person with a low monocyte count, is worth raising with a haematologist.Not sure whether this applies to you?
Ask an oncologistJoining the dots
How do doctors connect the infections to GATA2?
A careful infection history
The doctor asks which infections you have had, how often, and what treatment was used. Old reports of TB treatment matter, so bring them.
A full blood count
This shows the monocyte count. A monocyte count close to zero in someone with unusual infections is a strong clue.
Immune cell counts
A blood test called flow cytometry counts B cells and natural killer cells. In GATA2 deficiency both are often very low.
Naming the germ
A culture from sputum, a gland or a biopsy shows exactly which mycobacterium or fungus is present. That decides the right medicines.
A genetic test
If the pattern fits, a gene panel looks for a GATA2 fault, with counselling before and after the test.
On your reports
What do the words on these reports mean?
- Non-tuberculous mycobacteria
- Cousins of the TB germ found in soil and water. They are not usually passed between people and need different medicines from TB.
- MonoMAC syndrome
- An older name for GATA2 deficiency: very low monocytes plus infection with Mycobacterium avium complex, the commonest of these germs.
- HPV
- Human papillomavirus. It causes warts, and some types cause pre-cancer and cancer of the cervix and anus.
- Flow cytometry
- A blood test that counts different kinds of immune cell, including B cells and natural killer cells.
- Dendritic cells
- Immune cells that raise the alarm when germs arrive. They are often almost absent in GATA2 deficiency.
- Preventive antibiotic
- A medicine taken regularly to stop an infection starting, rather than to treat one already present.
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Is it ordinary TB, or an infection that points to GATA2?
Commonly believed
Four things people believe about these infections
Usually true. When warts are widespread, keep returning in an adult and come with other unusual infections, they can be a sign of an immune problem worth checking.
It may be drug-resistant TB, or a different mycobacterium altogether. A culture that names the germ is needed before deciding what to do next.
The infection can be treated, but the low immune cells remain. Preventive medicines and regular checks are usually needed for the long term, and the marrow is still watched.
Some live vaccines are avoided, but others are strongly advised. The HPV vaccine is one example. Your doctor will tell you which ones are safe for you.
Being straight with you
What this page cannot tell you
It cannot tell you whether your infections are caused by GATA2 deficiency. That takes blood counts, immune cell tests, a culture that names the germ and, if the pattern fits, a genetic test. A haematologist and an infectious disease doctor usually work this out together.
It cannot choose your medicines
Which preventive antibiotic, which vaccines and how long to treat an infection all depend on your counts, the germ and your other health problems. If you already have a GATA2 result, what your specific variant means is a question for the counsellor or haematologist who ordered the test.
Who this does not apply to
Most people who have had TB, warts or shingles do not have GATA2 deficiency. TB in particular is common in India and usually has nothing to do with an inherited condition. This page is for the smaller group whose infections are unusual, keep returning, or come with a very low monocyte count.
Studies of GATA2 deficiency are small, and very few come from India. Some of what is known may change.Questions we are asked
Common questions about infections in GATA2 deficiency
Can GATA2 deficiency cause TB?
It raises the risk of infection with mycobacteria, the family that includes TB. Most of these infections are with non-tuberculous types from soil and water, which behave differently and need different medicines. A culture that names the exact germ matters.
Are these infections catching?
Non-tuberculous mycobacteria are not normally passed between people, so the family is not at risk from the patient. Warts and herpes viruses spread by close contact, as they do for anyone. Ordinary hygiene is enough.
Why do warts matter so much?
In GATA2 deficiency the wart virus is poorly controlled. The same virus can cause pre-cancerous changes of the cervix, anus and vulva, sometimes at a young age. Regular checks of these areas are part of the usual care plan.
Will I need antibiotics all the time?
Some people with very low immune counts are advised to take a preventive antibiotic against mycobacteria. Whether you need one, and which, is a decision for your haematologist or infectious disease doctor. Do not start or stop one on your own.
Which vaccines are advised?
The HPV vaccine is usually advised, ideally before any exposure to the virus. Seasonal flu and other inactivated vaccines are generally encouraged. Live vaccines may need care, so ask your doctor for a written list.
Do infections mean cancer is coming soon?
Not necessarily. Infections and marrow changes run on separate tracks, and many people have infections for years with a stable marrow. Serious infections are, though, one reason doctors discuss a stem cell transplant earlier.
Can a transplant stop the infections?
A successful stem cell transplant replaces the faulty blood and immune system with a donor's, and the infection problems usually settle over time. It is a major treatment with real risks, so it is offered when the benefits clearly outweigh them.
Who should I see first?
Take your record of infections, TB treatment and blood tests to a haematologist. They may bring in an infectious disease specialist and a genetic counsellor. Call the CION helpline if you are unsure where to start, and someone will guide you.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- National Cancer Institute — GATA2 Deficiency Syndrome (PDQ®)–Health Professional Version
- Blood (American Society of Hematology) — The spectrum of GATA2 deficiency syndrome
- Centers for Disease Control and Prevention — About Nontuberculous Mycobacteria (NTM) Infections
- National Cancer Institute — Human Papillomavirus (HPV) Vaccine
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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Infections that keep coming back and nobody knows why?
Bring your infection history, TB treatment records and blood reports, and we will arrange a review with a haematologist who can look at the whole pattern. One helpline serves every CION centre.