We present 3 cases of variant X-linked CGD in an effort to introduce the disease and highlight the importance and limitations of CGD screening. [ncbi.nlm.nih.gov]

• Splenomegaly

  Hemophagocytic lymphohistiocytosis (HLH) is characterized by fever, cytopenias, splenomegaly, and hemophagocytosis by macrophages activated by high cytokine levels. [ncbi.nlm.nih.gov]

  DANGER SIGNS: failure to thrive, inflammatory anemia, thrombocytopenia, splenomegaly, lymphadenopathy, joint swelling/bone pain, dysmorphia, recurrent serious infections, fever/infectious symptoms every 21 days, unusual or resistant infections, periodontal [hawaii.edu]

  Venopathy of the portal vein was observed in 80% and was associated with splenomegaly [ 116 ]. [clinicalmolecularallergy.biomedcentral.com]

• Recurrent Infection

  Chronic granulomatous disease (CGD), a rare immunodeficiency, typically presents with recurrent infections caused by catalase-positive organisms. [scholars.northwestern.edu]

  Chronic granulomatous disease is a rare, inherited immunodeficiency disorder that reduces the superoxide generation ability of phagocytes, leading to recurrent infections and granulomatous inflammation. [ncbi.nlm.nih.gov]

  Leukocyte disorders are predominantly genetic diseases in which phagocytes fail to function normally resulting in recurrent infections. [clinicaltrials.gov]

• Fever

  This article discusses an 8-week-old Hispanic male who presented with fever of unknown origin. [pediatrics.aappublications.org]

  We present the case of a 15-year-old boy with X-linked CGD who presented with unremitting cough and fevers. He had a left-sided pneumonia that persisted despite home intravenous antibiotics. [ncbi.nlm.nih.gov]

  Fungal pneumonias often do not cause fever. In contrast, bacterial infections ( Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia ) usually come on very quickly with fever and cough. [primaryimmune.org]

• Anemia

  Hematological manifestations such as thrombocytopenia and hemolytic anemia are the most common presentations. [ncbi.nlm.nih.gov]

  Hypergammaglobulinemia and anemia can occur; ESR is elevated. [merckmanuals.com]

  […] kills microorganisms in lysosomes Either Y linked or autosomal recessive Diagnose with nitro blue tetrazolium test (almost always positive) Clinically, patients have recurrent lymphadenitis, hepatosplenomegaly, skin rash, pulmonary edema Laboratory Anemia [pathologyoutlines.com]

  Most common presentation is a young patient with short stature, dermatitis, gingivitis, anemia of chronic disease, recurrent lymphadenopathy, hepatosplenomegaly, hepatic abscesses and multifocal, recurrent osteomyelitis. [radiopaedia.org]

  Phone: 617-636-5535 Fax #: 617-636-7738 Childhood cancers including leukemia, lymphoma and solid tumors, anemia and bleeding disorders, thrombosis View Full Profile Susan K. [floatinghospital.org]

• Chills

  The most common side effects with ACTIMMUNE ® are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues. [actimmunehcp.com]

  The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues. [cgdconnections.com]

• Rigor

  Adverse events—including fever, rigors, flushing, vomiting, irritability, or agitation, and, in two patients, transient dyspnoea—were reported in less than 2% of 1594 individual infusions. Significantly, 16 patients developed allo-immunisation. [f1000research.com]

• Diarrhea

  We report the fatal case of a 4-year-old boy with chronic granulomatous disease, who presented with sepsis after a few days of abdominal pain and diarrhea. [ncbi.nlm.nih.gov]

  Common side effects of antibiotics include diarrhea and upset stomach. Infections from fungi, like Aspergillus species, can be very serious for people with CGD. [cgdconnections.com]

• Failure to Thrive

  Failure to thrive was recorded in 5 of 11 (45.4%) patients, all 5 suffering from colitis. [omicsonline.org]

  Presentation Symptoms often appear in first year of life with recurrent pyogenic infections recurrent infection with catalase-positive organisms pneumonias aspergillosis skin abscesses pulmonary abscesses chronic diarrhea ear infections osteomyelitis failure [medbullets.com]

  Up to 50% of patients present with diarrhea, abdominal pain, and failure to thrive. Pneumonia, abscesses, cellulitis, adenitis and osteomyelitis are common. [orpha.net]

• Chronic Diarrhea

  diarrhea ear infections osteomyelitis failure to thrive Physical exam short stature eczematoid dermatitis hepatomegaly lymphadenopathy Evaluation Flow cytometry reduction of dihydrorhodamine abnormal can detect X-linked carrier status cannot differentiate [medbullets.com]

  […] disease, underweight, chronic diarrhea, short stature, gingivitis, and dermatitis; diagnosis made by NBT, flow cytometry, or cytochrome C reduction; treatment includes prevention of infection with daily trimethoprim-sulfamethoxazole and gamma-interferon [hawaii.edu]

• Hepatosplenomegaly

  Multifocal and recurrent unusual osteomyelitis, recurrent hepatic abscesses, hepatosplenomegaly, and lymphadenitis. For lung involvement see - pulmonary manifestations of chronic granulomatous disease. [radiopaedia.org]

  In addition, septicopyemia, thrush, and hepatosplenomegaly were also commonly observed, accounting for 23%, 23%, and 40% of the cases. Lesions due to BCG vaccination occurred in more than half of the patients. [ncbi.nlm.nih.gov]

  […] monocytes White blood cells cannot generate superoxide ion which kills microorganisms in lysosomes Either Y linked or autosomal recessive Diagnose with nitro blue tetrazolium test (almost always positive) Clinically, patients have recurrent lymphadenitis, hepatosplenomegaly [pathologyoutlines.com]

  Suppurative lymphadenitis, hepatosplenomegaly, pneumonia, and hematologic evidence of chronic infection are common. Skin, lymph node, lung, liver, and perianal abscesses; stomatitis; and osteomyelitis also occur. Growth may be delayed. [merckmanuals.com]

  Since its first description in the 1950s as a syndrome of recurrent infections, hypergammaglobulinemia, hepatosplenomegaly, and lymphadenopathy in males who invariably died in the first decade of life, notable advances have been made in the understanding [thehealthscience.com]

• Hepatomegaly

  […] recurrent pyogenic infections recurrent infection with catalase-positive organisms pneumonias aspergillosis skin abscesses pulmonary abscesses chronic diarrhea ear infections osteomyelitis failure to thrive Physical exam short stature eczematoid dermatitis hepatomegaly [medbullets.com]

  One should not assume that an elevated ESR or chronic organomegaly (e.g., lymphadenopathy or hepatomegaly) is “normal” for these patients. [clinicaladvisor.com]

  most common clinical findings are lymphadenopathy, hypergammaglobulinemia, hepatomegaly, splenomegaly, anemia of chronic disease, underweight, chronic diarrhea, short stature, gingivitis, and dermatitis; diagnosis made by NBT, flow cytometry, or cytochrome [hawaii.edu]

  In one study of 194 patients from the NIH, elevated liver enzymes (mainly transaminitis) were documented in >75%, liver abscess in 35%, hepatomegaly in 34%, and splenomegaly in over 50% cases [ 116 ]. [clinicalmolecularallergy.biomedcentral.com]

• Cutaneous Manifestation

  Abstract Chronic lupus-like illness, characterized by arthralgia, cutaneous manifestations of lupus erythematosus, and photosensitivity, occurred in two mothers of boys with chronic granulomatous disease; one mother also had Raynaud's phenomenon, pleuritis [annals.org]

  Cutaneous manifestations of chronic granulomatous disease. A report of four cases and review of the literature. J Am Acad Dermatol. 1997 Jun. 36(6 Pt 1):899-907. [Medline]. Gallin JI, Malech HL. Update on chronic granulomatous diseases of childhood. [emedicine.medscape.com]

• Skin Ulcer

  Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed. [ncbi.nlm.nih.gov]

Pneumonia Abscesses throughout the body and in organs Cellulitis Septic arthritis Osteomyelitis Bacteremia and invasive fungal infections Diagnostic Workup for Pediatric Chronic Granulomatous Disease Once the diagnosis of chronic granulomatous disease [lecturio.com]

We would repeat a CBC and ESR in 3-4 days and institute a full workup if they are not improving rapidly at the same rate expected for a normal child. [clinicaladvisor.com]

• Neutrophilia

  Among the other causes of neutrophilia are: reactive leukocytosis, ethnic neutrophilia, Pelger Huet, leukemoid reaction, leukoerthyroblastic response, chronic myeloid leukemia and leukocyte adhesion defect. [hawaii.edu]

• Granulomatous Tissue

  Chronic granulomatous disease (CGD) is a life threatening inherited disorder with varied clinical presentations often characterized by recurrent bacterial and fungal infections along with widespread granulomatous tissue response. [ncbi.nlm.nih.gov]

  Infection of the bones (osteomyelitis), brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of chronic granulomatous disease. [rarediseases.org]

Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD. [ncbi.nlm.nih.gov]

What is the treatment for chronic granulomatous disease (CGD)? Treatment for chronic granulomatous disease (CGD) includes: Preventative (prophylactic) antibiotics and antifungals on a long-term basis are the mainstays of treatment. [danafarberbostonchildrens.org]

[…] reduction test (NBT) and Dihydrorhodamine (DHR) with PMA stimulation by flow cytometry are quick, simple, sensitive and specific laboratory tests that help establish early and reliable diagnosis of CGD with an overall improvement in survival and disease prognosis [ncbi.nlm.nih.gov]

Prevention, and Complications Prognosis improving with treatment 50% survival rate to age 30-40 Prevention good skin hygiene antifungals and antibiotics Complications severe fungal infections are often determinant of survival Please rate topic. [medbullets.com]

Prognosis The prognosis has greatly improved with the use of antibacterial and antifungal prophylaxis therapy, with most patients living well into adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Vertebral osteomyelitis is known to occur in chronic granulomatous disease, a phagocytic disorder and the etiology is usually a fungus. [ncbi.nlm.nih.gov]

The initial diagnostic evaluation demonstrated pathologic hyperactive inflammation, meeting the HLH-2004 diagnostic criteria without an identified infectious etiology. [pediatrics.aappublications.org]

Introduction Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of phagocytes Genetics X-linked recessive (mainly) autosomal recessive disease is milder both result in deficiency in NADPH oxidase Epidemiology males > females due to [medbullets.com]

Summary Epidemiology The average worldwide birth prevalence is estimated at 1/ 217,000. Clinical description CGD can present at any age but is most commonly diagnosed before the age of 5 years. [orpha.net]

Epidemiology Frequency United StatesThe exact incidence of chronic granulomatous disease is unknown. [thehealthscience.com]

Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30(1):57-62. [revistaalergia.mx]

Leukocyte adhesion defect I: Pathophysiology is the lack of an adhesion receptor resulting in impaired chemotaxis, adhesion, and phagocytosis; inheritance autosomal recessive; rare with 60 cases reported; clinically characterized by moderate to severe [hawaii.edu]

Serger Chronic granulomatous disease: recent advaces in pathophysiology and treatment Neth J Med., 68 (2010), pp. 334-340 Medline 10 J. Bustamante,G. Aksu,G. [revistapediatria.org]

Pathophysiology In response to phagocytosis, neutrophils increase their oxygen consumption, which has been termed the respiratory or oxidative burst. [thehealthscience.com]

Susceptibility to Catalase Positive Organisms “BEANS” B urkholderia cepacia E nterobacteriaceae A spergillus N ocardia S taph aureus Pathophysiology of Pediatric Chronic Granulomatous Disease Once neutrophils phagocytose bacteria and other pathogens, [lecturio.com]

Chronic granulomatous disease: Recent advances in pathophysiology and treatment. Neth J Med. 2010;68:334-40. 2. Rosenzweig SD. Chronic granulomatous disease: Complications and management. [revistabiomedica.org]

This activity can partially explain the long-term survival of the patients without adequate diagnosis and treatment, but could not prevent progressing lung damage. [ncbi.nlm.nih.gov]

The mortality rate has fallen with modern preventative treatments of antibiotics, antifungals, and interferon therapy. [danafarberbostonchildrens.org]

The best treatment plan for CGD is prevention from infection. The following tips can help prevent infection: Avoid swimming in water other than chlorinated pools. [healthline.com]

In patients with frequent infections, daily small dose of antibiotics (commonly used antibiotic is cotrimoxazole) can help to prevent infection. [pediatriconcall.com]

and Complications Prognosis improving with treatment 50% survival rate to age 30-40 Prevention good skin hygiene antifungals and antibiotics Complications severe fungal infections are often determinant of survival Please rate topic. [medbullets.com]