Chronic Granulomatous Disease (CGD) in Children
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, AAP, IDF guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect chronic granulomatous disease (cgd) in children, here is what the evidence says.
The short answer
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency affecting phagocytes (white blood cells that engulf and kill bacteria and fungi). In CGD, these cells can ingest germs but cannot kill them because they lack the ability to produce the "respiratory burst" of reactive oxygen species needed to destroy pathogens. This leads to recurrent, serious bacterial and fungal infections, particularly with Staphylococcus aureus, Aspergillus, Serratia, Nocardia, and Burkholderia. CGD also causes granuloma formation (inflammatory nodules) in various organs. With lifelong prophylactic antibiotics and antifungals, and newer treatments including bone marrow transplant, children with CGD can do well.
Key takeaways
- Chronic granulomatous disease (CGD) is a rare primary immunodeficiency affecting phagocytes (white blood cells that engulf and kill bacteria and fungi). In CGD, these cells can ingest germs but cannot kill them because they lack the ability to produce the "respiratory burst" of reactive oxygen species needed to destroy pathogens. This leads to recurrent, serious bacterial and fungal infections, particularly with Staphylococcus aureus, Aspergillus, Serratia, Nocardia, and Burkholderia. CGD also causes granuloma formation (inflammatory nodules) in various organs. With lifelong prophylactic antibiotics and antifungals, and newer treatments including bone marrow transplant, children with CGD can do well.
- Usually normal when: Your child with CGD is on prophylactic antibiotics and antifungals and has not had a serious infection recently
- Call your doctor if: Your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment
- Varies by age — see the age-by-age breakdown below
“Fever itself is not an illness — rather, it is a sign or symptom that the body is fighting an infection. Fever stimulates certain defenses, such as the white blood cells, which attack and destroy invading bacteria.”
Thousands of parents search for this exact thing. You are not alone.
What Parents Should Know
According to NIH, AAP, IDF guidelines, chronic granulomatous disease (CGD) is a rare primary immunodeficiency affecting phagocytes (white blood cells that engulf and kill bacteria and fungi). In CGD, these cells can ingest germs but cannot kill them because they lack the ability to produce the "respiratory burst" of reactive oxygen species needed to destroy pathogens. This leads to recurrent, serious bacterial and fungal infections, particularly with Staphylococcus aureus, Aspergillus, Serratia, Nocardia, and Burkholderia. CGD also causes granuloma formation (inflammatory nodules) in various organs. With lifelong prophylactic antibiotics and antifungals, and newer treatments including bone marrow transplant, children with CGD can do well. At 0-6 months, cGD can present in early infancy with severe infections. The most common early presentations include liver abscesses, lymphadenitis (infected and swollen lymph nodes that may drain), pneumonia (especially with Aspergillus), and severe skin infections. Some babies also develop perianal abscesses or osteomyelitis (bone infection). The X-linked form (accounting for about 65% of cases) typically presents earlier and more severely than autosomal recessive forms. If your baby has a serious infection with an unusual organism, your doctor may test for CGD using the dihydrorhodamine (DHR) flow cytometry test. It is generally considered normal when your child with CGD is on prophylactic antibiotics and antifungals and has not had a serious infection recently. However, you should contact your pediatrician promptly if your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment.
Normal vs. Concerning
When to Seek Immediate Care
- Your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment
- Your child with CGD develops cough, chest pain, or shortness of breath — Aspergillus pneumonia requires urgent diagnosis and aggressive antifungal treatment
- Your child with CGD has a rapidly enlarging lymph node, new abscess, or signs of sepsis (high fever, lethargy, poor feeding)
By Age
What to expect by age
0-6 months
CGD can present in early infancy with severe infections. The most common early presentations include liver abscesses, lymphadenitis (infected and swollen lymph nodes that may drain), pneumonia (especially with Aspergillus), and severe skin infections. Some babies also develop perianal abscesses or osteomyelitis (bone infection). The X-linked form (accounting for about 65% of cases) typically presents earlier and more severely than autosomal recessive forms. If your baby has a serious infection with an unusual organism, your doctor may test for CGD using the dihydrorhodamine (DHR) flow cytometry test.
6-12 months
Recurrent infections become more apparent at this age. Babies with CGD may develop pneumonia that is slow to resolve, lymph node infections that require drainage, liver or spleen abscesses, or granulomatous lesions in the gut causing symptoms similar to inflammatory bowel disease (poor feeding, bloody stools, poor growth). Infections with catalase-positive organisms (Staphylococcus aureus, Aspergillus species, Serratia marcescens) are characteristic of CGD.
1-3 years
Once diagnosed, children with CGD are placed on lifelong prophylactic medications: trimethoprim-sulfamethoxazole (an antibiotic) and itraconazole (an antifungal) to prevent infections. Interferon-gamma (IFN-gamma) therapy may also be used to reduce serious infections. Despite prophylaxis, breakthrough infections can still occur and need aggressive treatment. Granulomatous inflammation can affect the gastrointestinal and genitourinary tracts, causing symptoms like obstructive bowel disease or urinary tract obstruction.
3+ years
With good prophylactic care, many children with CGD attend school and participate in normal activities. Bone marrow transplant (hematopoietic stem cell transplant) is curative and is increasingly recommended, especially for children with a well-matched donor, as outcomes have improved significantly. Gene therapy is also in clinical trials. Long-term management requires close monitoring for infections, granulomatous complications, and inflammatory bowel disease-like symptoms. Children should avoid mulch, hay, and other sources of decaying plant matter that harbor Aspergillus spores.
What to Tell Your Pediatrician
- Describe when you first noticed chronic granulomatous disease (cgd) in children and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your child has had recurrent deep infections (abscesses, lymphadenitis, pneumonia) especially with unusual organisms.
- Mention if your child with CGD has gastrointestinal symptoms such as chronic diarrhea, bloody stools, or poor growth suggesting granulomatous colitis.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your child with CGD is on prophylactic antibiotics and antifungals and has not had a serious infection recently
- Your child had a routine mild upper respiratory virus and recovered normally — CGD primarily affects the ability to fight certain bacteria and fungi
- Your child's DHR test was normal, ruling out CGD
- Your child with CGD is growing well and meeting developmental milestones with appropriate preventive care
- Your child has had recurrent deep infections (abscesses, lymphadenitis, pneumonia) especially with unusual organisms
- Your child with CGD has gastrointestinal symptoms such as chronic diarrhea, bloody stools, or poor growth suggesting granulomatous colitis
- You want to discuss whether bone marrow transplant is appropriate for your child with CGD
- Your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment
- Your child with CGD develops cough, chest pain, or shortness of breath — Aspergillus pneumonia requires urgent diagnosis and aggressive antifungal treatment
- Your child with CGD has a rapidly enlarging lymph node, new abscess, or signs of sepsis (high fever, lethargy, poor feeding)
What You Can Do at Home
- Keep track of when you notice chronic granulomatous disease (cgd) in children — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your child with CGD is on prophylactic antibiotics and antifungals and has not had a serious infection recently — this is generally within the range of normal.
- At 0-6 months, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment.
Related Conditions
Signs of Primary Immunodeficiency in Babies
Primary immunodeficiency disorders are conditions where the immune system does not function properly from birth. Warning signs include 4 or more new ear infections in a year, 2 or more serious sinus infections in a year, 2 or more months on antibiotics with little effect, 2 or more pneumonias in a year, failure to thrive, recurrent deep skin or organ abscesses, and a family history of primary immunodeficiency. These conditions are rare but treatable when identified early.
Warning Signs of Primary Immunodeficiency in Children
Primary immunodeficiency diseases (PIDs) are a group of over 450 genetic conditions where the immune system does not function properly. The Jeffrey Modell Foundation has identified 10 warning signs in children: 4+ new ear infections in a year, 2+ serious sinus infections in a year, 2+ months on antibiotics with little effect, 2+ pneumonias in a year, failure to gain weight or grow normally, recurrent deep skin or organ abscesses, persistent thrush in mouth or fungal infection on skin, need for IV antibiotics to clear infections, 2+ deep-seated infections (sepsis, meningitis), and a family history of PID. If your child meets 2 or more of these criteria, discuss immunologic testing with your pediatrician.
SCID (Severe Combined Immunodeficiency) in Babies
Severe combined immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders in which a baby is born with virtually no functioning immune system. Babies with SCID lack T-cells and sometimes B-cells and NK-cells, leaving them unable to fight infections. SCID is now detected through newborn screening in all U.S. states. Without treatment, most babies with SCID do not survive past their first year. However, bone marrow (hematopoietic stem cell) transplant performed early — ideally before 3.5 months and before infections develop — is curative in over 90% of cases.
My Baby Has a Fever That Won't Go Away
Most fevers in babies and toddlers are caused by viral infections and resolve within 3-5 days. A fever that lasts longer than 3 days, returns after seeming to resolve, or is accompanied by worsening symptoms warrants medical evaluation. The most important thing is how your baby looks and acts - a child who is alert and drinking well with a fever is generally less concerning than one who is listless, regardless of the temperature.
Related Resources
Frequently asked questions
Is chronic granulomatous disease (cgd) in children normal?
When should I call the doctor about chronic granulomatous disease (cgd) in children?
When is chronic granulomatous disease (cgd) in children normal?
What causes chronic granulomatous disease (cgd) in children?
What should I mention to my pediatrician about chronic granulomatous disease (cgd) in children?
Is chronic granulomatous disease (cgd) in children normal at 0-6 months?
Is chronic granulomatous disease (cgd) in children normal at 6-12 months?
Should I go to the ER for chronic granulomatous disease (cgd) in children?
Does chronic granulomatous disease (cgd) in children go away on its own?
References
- [1]National Institute of Allergy and Infectious Diseases. Chronic Granulomatous Disease (CGD). NIAID, 2023. NIH
- [2]American Academy of Pediatrics. Primary Immunodeficiency Diseases. Pediatrics in Review, 2019. AAP
- [3]Immune Deficiency Foundation. Chronic Granulomatous Disease. IDF Patient & Family Handbook, 2024. IDF
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss Chronic Granulomatous Disease (CGD) in Children.
Things to mention
- Describe when you first noticed chronic granulomatous disease (cgd) in children and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if your child has had recurrent deep infections (abscesses, lymphadenitis, pneumonia) especially with unusual organisms.
- Mention if your child with CGD has gastrointestinal symptoms such as chronic diarrhea, bloody stools, or poor growth suggesting granulomatous colitis.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- Your child has had recurrent deep infections (abscesses, lymphadenitis, pneumonia) especially with unusual organisms
- Your child with CGD has gastrointestinal symptoms such as chronic diarrhea, bloody stools, or poor growth suggesting granulomatous colitis
- You want to discuss whether bone marrow transplant is appropriate for your child with CGD
Urgent signs to report immediately
- Your child with CGD develops a fever — any fever in a child with CGD requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment
- Your child with CGD develops cough, chest pain, or shortness of breath — Aspergillus pneumonia requires urgent diagnosis and aggressive antifungal treatment
- Your child with CGD has a rapidly enlarging lymph node, new abscess, or signs of sepsis (high fever, lethargy, poor feeding)
My notes
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Related Resources
Bottom line
Most cases of chronic granulomatous disease (cgd) in children are normal. Talk to your pediatrician if your child with cgd develops a fever — any fever in a child with cgd requires prompt medical evaluation because infections can progress rapidly and may involve unusual organisms requiring specific treatment.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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Related Medical Concerns
Signs of Primary Immunodeficiency in Babies
Primary immunodeficiency disorders are conditions where the immune system does not function properly from birth. Warning signs include 4 or more new ear infections in a year, 2 or more serious sinus infections in a year, 2 or more months on antibiotics with little effect, 2 or more pneumonias in a year, failure to thrive, recurrent deep skin or organ abscesses, and a family history of primary immunodeficiency. These conditions are rare but treatable when identified early.
Warning Signs of Primary Immunodeficiency in Children
Primary immunodeficiency diseases (PIDs) are a group of over 450 genetic conditions where the immune system does not function properly. The Jeffrey Modell Foundation has identified 10 warning signs in children: 4+ new ear infections in a year, 2+ serious sinus infections in a year, 2+ months on antibiotics with little effect, 2+ pneumonias in a year, failure to gain weight or grow normally, recurrent deep skin or organ abscesses, persistent thrush in mouth or fungal infection on skin, need for IV antibiotics to clear infections, 2+ deep-seated infections (sepsis, meningitis), and a family history of PID. If your child meets 2 or more of these criteria, discuss immunologic testing with your pediatrician.
SCID (Severe Combined Immunodeficiency) in Babies
Severe combined immunodeficiency (SCID) is a group of rare, life-threatening genetic disorders in which a baby is born with virtually no functioning immune system. Babies with SCID lack T-cells and sometimes B-cells and NK-cells, leaving them unable to fight infections. SCID is now detected through newborn screening in all U.S. states. Without treatment, most babies with SCID do not survive past their first year. However, bone marrow (hematopoietic stem cell) transplant performed early — ideally before 3.5 months and before infections develop — is curative in over 90% of cases.
My Baby Has a Fever That Won't Go Away
Most fevers in babies and toddlers are caused by viral infections and resolve within 3-5 days. A fever that lasts longer than 3 days, returns after seeming to resolve, or is accompanied by worsening symptoms warrants medical evaluation. The most important thing is how your baby looks and acts - a child who is alert and drinking well with a fever is generally less concerning than one who is listless, regardless of the temperature.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.