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Chronic Granulomatous Disease

Chronic Granulomatous Disease is a primary immunodeficiency disorder caused by defective phagocyte oxidative burst due to NADPH oxidase deficiency. It causes recurrent, severe bacterial and fungal infections and granuloma formation

Also called

Chronic Granulomatous Disorder

ICD-10

D71

Specialty

Hematology

Onset

Chronic

Reviewed

August 2026

On This Page

Overview

Chronic Granulomatous Disease is an inherited disorder in which neutrophils and macrophages cannot generate an effective oxidative burst. This impairs intracellular killing of certain bacteria and fungi, particularly catalase-positive organisms. Patients develop recurrent infections and inflammatory granulomas, usually beginning in childhood

Etiology & Risk Factors

Chronic Granulomatous Disease is caused by mutations affecting components of the NADPH oxidase complex.

Inheritance

  • X-linked recessive — most common
  • Autosomal recessive — less common

Important catalase-positive organisms include:

  • Staphylococcus aureus
  • Aspergillus species
  • Serratia marcescens
  • Burkholderia cepacia
  • Nocardia species
  • Salmonella species

Risk Factors

  • Family history
  • Male sex in X-linked disease
  • Consanguinity in autosomal recessive disease

Pathophysiology

NADPH oxidase mutation → defective production of reactive oxygen species → impaired oxidative burst in neutrophils and macrophages → reduced intracellular killing of certain microorganisms → recurrent bacterial and fungal infections → chronic inflammatory response → granuloma formation.

Clinical Presentation

Symptoms

  • Recurrent pneumonia
  • Recurrent skin abscesses
  • Recurrent lymphadenitis
  • Osteomyelitis
  • Liver abscesses
  • Persistent fever
  • Chronic diarrhea
  • Failure to thrive

Signs

  • Skin abscesses
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Granulomatous lesions
  • Poor growth

History Taking

-Ask about:

  • Recurrent infections
  • Recurrent pneumonia
  • Skin abscesses
  • Lymphadenitis
  • Osteomyelitis
  • Liver abscesses
  • Chronic diarrhea
  • Poor growth
  • Previous unusual infections
  • Family history
  • Consanguinity

Physical Examination

-General Examination

Look for:

  • Fever

  • Poor growth

  • Weight loss

  • Signs of chronic infection

-Skin Examination

Assess for:

  • Abscesses

  • Cellulitis

  • Scars from previous infections

-Lymph Node Examination

Look for:

  • Lymphadenopathy

  • Recurrent lymph node inflammation

-Abdominal Examination

Assess for:

  • Hepatomegaly

  • Splenomegaly

  • Liver abscess

Investigations

-Complete Blood Count

May show:

  • Leukocytosis during infection

  • Neutrophilia

  • Anemia during chronic infection

-Dihydrorhodamine Flow Cytometry — Gold Standard

The preferred diagnostic test.

Typical finding:

  • Reduced or absent oxidative burst

-Nitroblue Tetrazolium Test

An older screening test.

Typical finding:

  • Reduced or absent dye reduction

-Genetic Testing

  • Identifies the causative mutation

  • Helps confirm the diagnosis

  • Useful for family screening

-Microbiology

  • Blood cultures

  • Pus cultures

  • Fungal cultures

  • Cultures from suspected infection sites

-Imaging

Depending on symptoms:

  • Chest X-ray or CT for pneumonia

  • Ultrasound or CT for liver abscess

  • MRI for suspected osteomyelitis

Diagnosis

-Diagnosis is based on:

  • Recurrent severe bacterial or fungal infections
  • Typical catalase-positive organisms
  • Abnormal Dihydrorhodamine flow cytometry
  • Abnormal oxidative burst
  • Genetic confirmation when available
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Management

-Infection Prevention

Long-term prophylaxis may include:

  • Trimethoprim-sulfamethoxazole (TMP-SMX)

  • Antifungal prophylaxis, commonly itraconazole or another appropriate agent

Interferon-Gamma

  • May be used in selected patients

  • Can reduce the frequency of serious infections

-Acute Infections

  • Prompt antimicrobial therapy

  • Culture-guided treatment

  • Prolonged treatment may be required

  • Drainage of abscesses when indicated

-Curative Treatment

Allogeneic hematopoietic stem cell transplantation can provide a cure in suitable patients.

-Supportive Care

  • Regular specialist follow-up

  • Appropriate vaccination

  • Prompt treatment of infections

  • Genetic counseling

  • Family screening when appropriate

Complications

  • Recurrent severe bacterial infections
  • Invasive fungal infections
  • Pneumonia
  • Liver abscess
  • Osteomyelitis
  • Granuloma formation
  • Gastrointestinal obstruction
  • Urinary tract obstruction
  • Chronic lung disease
  • Growth failure

Prognosis

Prognosis has improved significantly with early diagnosis, antimicrobial prophylaxis, and modern supportive care. However, patients remain at risk of severe infections and inflammatory complications. Hematopoietic stem cell transplantation can provide definitive cure in appropriate patients.

Key Points / Clinical Pearls

  • Chronic Granulomatous Disease is a primary immunodeficiency.
  • It results from NADPH oxidase deficiency.
  • The main defect is an impaired oxidative burst.
  • Patients are susceptible to catalase-positive organisms.
  • Important organisms include Staphylococcus aureus, Aspergillus, Serratia, Burkholderia, and Nocardia.
  • Dihydrorhodamine flow cytometry is the preferred diagnostic test.
  • The Nitroblue Tetrazolium test is an older diagnostic method.
  • Long-term antibacterial and antifungal prophylaxis is important.
  • Interferon-gamma may be used in selected patients.
  • Allogeneic hematopoietic stem cell transplantation can be curative.
  • Most patients present during childhood with recurrent severe infections