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Diagnosing CGD: A Checklist

CGD has specific symptoms. These are listed below in terms of the most common presenting ones. It's important to consider a diagnosis and test for CGD if someone presents with a combination of these symptoms as they may indicate the condition.

Download our guide to CGD for medical professionals, written by medical professionals


Suppurative lymphadenitis

Red, swollen, tender glands or lumps in areas such as the groin, armpit, neck, behind the ears and under the jaw and chin.

Diarrhoea from enteritis; sometimes symptoms very similar to ulcerative colitis and Crohn’s causing misdiagnosis

Diarrhoea for more than a few days, slimy poo, poo that smells really very offensive, blood in the poo.

Pneumonia or lung abscesses

Cough, chest pain, fever and difficulty breathing. People with CGD often have repeated bouts of pneumonia.

Recurrent infections especially involving the skin, lungs, lymph and liver

Lots of infections (caused by bacteria and fungus) that may respond to treatment but will return once treatment has stopped.

Perirectal abscess and fistula

Boils (abscesses) full of pus near the bottom usually caused by a bacterial infection; painful bottom area, fever, changed bowel habits, leaking of poo into underclothes.

Abscesses in the liver or spleen

Fever (low to start then rising), spiking temperature, pain (tummy or back), area might be tender or feel harder, loss of weight, tiredness.

Fungal infections which may be mild or indolent to begin with

Any pneumonia caused by fungus. Any fungal infection caused by the fungus Aspergillus.


Infection of the bone or bone marrow usually caused by a bacterial infection. Pain and/or tenderness, swelling and warmth in the infected area, fever, drainage of pus through the skin.


A severe infection of the blood caused by bacteria, high fever, sometimes accompanied by chills.

Granulomas of the skin

Hard, inflamed nodules under the skin.

Family history

Unexplained deaths in the family particularly affecting males; history of mothers with lupus.

Neonatal pustulosis

History of a red rash on a baby, often fleeting, made up of small spots with white heads that contain pus. Sometimes it’s just on the face, but it can be on the neck, trunk, limbs or all over.

Failure to thrive

Unexplained weight loss or a child not growing or putting weight on, feeling generally unwell or not feeding as they should.

Unexplained vague and frequent symptoms; tiredness

Frequent tummy ache, loss of appetite, feeling low, always feeling tired/no energy.

Recurrent Apthous Ulcers

Frequent and painful mouth ulcers; pain can make it difficult to eat and drink.

Skin problems including acne or acne-like conditions; cystic acne; eczematoid, seborrheic or infectious eczematoid dermatitis

Severe blackheads or whiteheads and sometimes cysts of hard nodules that can appear on the face, neck, chest, back or shoulders. These can get inflamed (appearing swollen/red/angry).

Sometimes flaky, itchy skin, dry (sometimes ‘angry-looking’) skin can be seen.

Difficulty in passing urine

Difficulty and pain when going to the toilet to urinate. This may be caused by granulomas in the urinary tract.


Hard consistency making it difficult and painful to poo. Sometimes loose/liquid poo can seep around the hard poo and so it seems like diarrhoea, not constipation.

This page has been reviewed by our Medical Advisory Panel, January 2013.


More information

Read more about diagnosis.

Read more about inheritance.

Read more about the different types of CGD.

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