Chronic Granulomatous Disease

Are persistent skin infections becoming a cause of big worry for you? Watch out, for you could be suffering from Chronic Granulomatous Disease (CGD). Get complete information on the causes, symptoms and treatment of this disorder.

Chronic Granulomatous Disease Definition

It is a diverse hereditary primary immunodeficiency disease characterized by improper functioning of a few cells of the immune system (known as Phagocytes). These cells find it extremely difficult to form reactive oxygen compounds such as superoxide radical, which are essential for removal of pathogens. This in turn gives rise to severe infection in the body and leads to the formation of granulomata in various organs of a patient. It also makes the body more vulnerable to different types of fungal and bacterial infections.

Chronic Granulomatous Disease Synonyms

This disorder is also known by various other names like:

Picture of Chronic Granulomatous Disease

Picture 1 – Chronic Granulomatous Disease

  • Bridges–Good Syndrome
  • CGD
  • Progressive Septic Granulomatosis
  • Quie Syndrome
  • Chronic Granulomatous Disorder
  • Fatal granulomatosis of childhood;

Chronic Granulomatous Disease ICD9 Code

The ICD9 code for this ailment is 288.1

Chronic Granulomatous Disease Incidence

The condition is found to arise in 1 out of 1000000 individuals. The ratio of its occurrence in males to females is 4:1. Around 80% of the patients suffering from this disorder acquire this disease through an X-linked form of inheritance. 20% of CGD patients acquire this disease via an autosomal recessive form.

Chronic Granulomatous Disease Classification

This chronic disorder is classified into:

  • Chronic B-negative disease
  • Atypical Granulomatous Disease
  • X-linked Cytochrome B-positive Disease
  • Chronic X-linked Disease
  • X-linked Variant Disease

Chronic Granulomatous Disease Causes

CGD is mainly caused due to hereditary disorders. The disease arises when there are at least two defective genes present in the body. These genes are transferred to the X chromosome. In a few cases, both parents of a patient have this disease. Such patients acquire the ailment in an autosomal recessive pattern.

Chronic Granulomatous Disease Symptoms

A number of symptoms indicate the existence of this disorder. Some of these include:

Frequent skin infections

Patients suffering from CGD often suffer from various types of skin infections on their face and various other parts of the body.

Difficult-to-clear skin impurities and infections

Such patients often face problems while cleansing their skin impurities. They also face problems to cure the infections formed on the upper layer of their skin.


These are quite common among CGD sufferers. Presence of furuncles indicates the possibility of the existence of the condition in the body of a patient.


Swelling near the joints and various parts of the body is common among patients. This is an alarming sign for sufferers, making it necessary for them to start immediate treatment.


Redness of the skin, along with small blisters on various part of the body, is common among affected individuals.

Bone infections

Patients suffering from this chronic disorder have severe bone infections in different parts of the body, especially the arms and legs.

Joint infections

It is common among CGD patients. Such individuals often complain about multiple joint infections, which cause severe pain.

Constant diarrhea

Persistent diarrhea is one of the common symptoms of CGD. It gives a warning signal to patients that they need immediate treatment for their medical condition.

Impetiginized Eczema

It is one of the major characteristics of CGD patients and becomes severe due to an infection.

Perianal abscesses

It is an abscess around the abdomen that causes severe agony.


It is frequent among the patients of CGD and is very difficult to be cured.

Chronic Contamination

Individuals with CGD experience chronic infectivity inside the nose. The swelling of lymph nodes around the neck occur very early in life and continue to persist. These swollen lymph nodes may need a surgical treatment for proper cure.

Chronic Granulomatous Disease Diagnosis

A proper diagnosis of this syndrome can only be confirmed by laboratory examination. The tests evaluate the purpose and eliminating capacity of the phagocytic cells. Other tests conducted on the patient evaluate the metabolic mechanism of the cells and determine the intracellular eliminating ability of the phagocytic cells.

The diagnosis tests for this disorder include:

  • Erythrocyte Sedimentation Rate (ESR), used for examining any type of inflammation
  • Superoxide Production
  • Liver Scan
  • Nitroblue Tetrazolium Reduction, a type of screening test which studies the movement of leukocytes during phagocytosis
  • Bone Scan
  • DHR or Dihydrorhodamine Reduction flow cytometry determines the capacity of phagocytes to kill bacteria
  • Biopsy

Doctors recommend treatment based on the results of the abovementioned diagnostic procedures for the disease.

Chronic Granulomatous Disease Treatment

The ideal procedure for treating CGD is to avoid the development of such infections in the first place. However, affected patients can be given proper guidelines to avoid any severe complications. Some of the treatment procedures for this medical disorder involve:


Interferon is one of the ideal preventive measures for people infected with CGD. Interferon is sanctioned by the Food and Drug Administration, as it minimizes the impacts of CGD infection by 70% among affected patients. It provides CGD patients with a better immunity and ability to eliminate all the existing infections and thereby reduce the severity of the disease. This therapy is considered to be the best treatment for CGD sufferers.


Trimethoprim-sulfamethoxazole is one of the most prescribed antibiotic, given to patients infected with bacteria. This antibiotic can also remove average bacteria from the digestive canal. All other types of fungal infections are prevented by an effective drug known as Itraconazole.

Hematopoietic stem cell transplantation (HSCT)

Although it involves significant risk, proper cell transplantation from a corresponding donor can help cure CGD in patients.

Chronic Granulomatous Disease Management

People already affected with this disorder should avoid doing a few things that can possibly make their situation even worse.

Image of Chronic Granulomatous Disease

Picture 2 – Chronic Granulomatous Disease Image

  • Avoid swimming in water, except in pools with chlorine mixed in water. This is because salt water may contain certain minute organisms which can harm people affected with CGD.
  • Patients suffering from CGD may have severe life-threatening casualty from garden mulch. Hence, such patients are highly recommended to stay inside the house and avoid further complications.
  • Repotting plants, riding on hay rides and other such activities should be avoided by sufferers.
  • Infected individuals should never ever smoke Marijuana, which contains Aspergillus.

Chronic Granulomatous Disease Prognosis

Though some patients need to be taken to hospitals on regular basis, advanced information about phagocytic cell abnormalities and therapy helps many CGD patients recover easily. The outcome of this severe disorder has become better in the last two decades. However, the growth of portal hypertension acts as an unpleasant prognostic indication. The median survival death rate is 20-25 years.

Chronic Granulomatous Disease Childhood

This hereditary disorder can be present among patients from childhood. Generally, people with CGD are diagnosed before the age of 5.  Early diagnosis helps patients consume the right kind of antibiotic and prevent the infections from occurring.

Chronic Granulomatous Disease Life Expectancy

According to doctors, infants suffering from this disorder have normal life expectancy on being treated properly. Without adequate treatment and care, however, affected children can die due to this condition.

Chronic Granulomatous Disease Complications

This disorder can give rise to various complications like:

  • Lung damage
  • Bone damage
  • Skin damage
  • Chronic pneumonia

If you find any of your family members to be having this medical condition, along with pneumonia and multiple other infections, it is high time you consult a physician. If treated in time with proper medications, the disorder can be cured completely.



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