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chronic granulomatous disease ( cgd ) is a group of rare x - linked or autosomal recessive genetic disorders of the phagocytic nadph oxidase system causing recurrent bacterial and fungal infections with excessive inflammation and granuloma formation1 , 2 ) .
granuloma formation is considered to occur secondary to the failure of phagocytes in killing bacteria and due to undigested intracellular bacterial debris3 ) .
cgd is normally diagnosed in infancy and has an incidence of 1 in 200,000 - 250,000 live births4 , 5 ) .
most patients manifest symptoms and signs of recurrent and persistent infections during the first 2 years of life .
the disorder is much more common in males than in females , with 86% of patients in the usa national registry being male5 ) .
it has a mortality of approximately 2% per year , with a predicted life expectancy of around 25 - 30 years . in this article
, we describe an unusual case of aspergillus fumigatus pneumonia in a 2-month - old girl with cgd who showed a favorable response to treatment with amphotericin b and recombinant ifn- ( r ifn- ) .
a 2 months old girl , born at a gestational age of 38 + 2 weeks was referred to us for investigations regarding persistent pneumonia .
the girl suffered from several episodes of recurrent infections such as neonatal sepsis and gastroenteritis , since the 6 day of her life at the time of admission , she had received three recent course of antibiotics from the previous hospital including cefepime , clindamycin and imipenem due to persistent pneumonia . on admission , physical examination revealed mild chest retraction and rales in both lung fields .
her height and weight were at the 25 - 50 percentile and the 50 - 75 percentile for her age respectively . a chest x - ray ( fig .
diagnostic bronchoalveolar lavage ( bal ) was performed to obtain specimens for cytology and culture .
a computed tomography ( ct ) of the thorax showed a left sided consolidation and evidence of hematogenously disseminated multifocal pneumonia .
aspartate aminotransferase ( ast ) and alanine aminotransferase ( alt ) levels were raised ( 174 iu / l and 398 iu / l , respectively ) .
investigations for her immunologic work - up showed ig g , ig a , ig m , ig e , c3 , c4 , and ch50 levels to be within her age specific reference range .
diagnosis of cgd was confirmed by both abnormal neutrophil nitroblue tetrazolium ( nbt ) slide test ( fig .
2 ) and neutrophil respiratory burst activity test ( fig . 3 b-1 , b-2 ) . the detection of aspergillus galactomannan antigenemia during onceweekly monitoring was performed to facilitate early diagnosis of invasive aspergillosis and to evaluate the response to the antifungal therapy ( amphotericin b ) .
the course of the aspergillus antigen galactomannan titer in the serum during treatment is shown in fig .
4 . a genetic study for the mutation of the ncf1 ( neutrophil cytosol factor 1 ) gene encoding the p47 the most common gene mutation in autosomal recessive cgd ,
was done , but the mutation was not found . after a positive result from bal culture and aspergillus antigen detection , an antifungal agent was added to the treatment .
amphotericin b therapy was initiated at a dose of 0.25 mg / kg / d , followed by a daily dosage increases of 0.25 mg / kg / d until a therapeutic dosage ( 1.0 mg / kg / d ) was reached . however , the nbt dye reduction test revealed absolutely no reduction of dye by neutrophils therefore inf- administered subcutaneously at a dose of 15 g three times weekly was added to the patient 's regimen . during the treatment for aspergillus pneumonia
, we found right - sided inguinal lymphadenopathy , at the previous central line insertion site , a subsequent culture yielded enterobacter aerogenes .
perianal fissures had also occurred , and we therefore had the patient soak in a shallow tub of warm water ( sitz bath ) . during the admission period ,
we performed hepatitis serology and abdominal ultrasonography several times to identify the cause of the elevated liver enzymes .
we considered antibiotics - induced toxicity or the natural course of the disease as possible causes .
we had added voriconazole to her regimen because of the residual lesions on the lung .
however , during voriconazole administration , abnormal liver function values appeared , therefore we stopped voriconazole therapy . at the time of discharge from our center , which was 3 months after admission , her acute phase inflammatory markers and aspergillus precipitins had all progressively returned to normal .
a chest radiograph and ct scan after a 3-month course of antifungal treatment with ifn- showed complete resolution of the previous findings .
however , six weeks after the discharge , she was readmitted with fever due to recurrent pneumonia , considered as a previous remnant lesion .
she was treated with voriconazole for 4 weeks and commenced on prophylactic antibiotics and antifungal agents .
we are currently considering hla - identical bone marrow transplantation ( bmt ) for this patient at the age of 1-year - old .
cgd is a primary immunodeficiency disorder characterized by defects in superoxide - generating systems of phagocytes leading to recurrent bacterial and fungal infections .
diagnosis of this disease requires a high index of suspicion along with prompt and aggressive treatment of infections .
the presentation of this patient with recurrent , uncommon infections in early infanthood pointed towards a primary immunodeficiency .
as shown in this case , the lung is the most common site of infection , manifested as pneumonia or pulmonary abscess .
alternatively , dermatitis , subcutaneous abscess , lymphadenitis , liver abscess or osteomyelitis may be the prominent clinical problem in cgd patients7 ) .
the diagnosis of cgd is confirmed by the nbt dye reduction test and the respiratory burst activity test .
normally the percentage of blue - stained neutrophils is close to 100 , but in cgd patients , this percentage is close to 0 . in this case , the neutrophil respiratory burst activity test showed a dual population in the mother of the patient , further her father 's neutrophil respiratory burst activities were slightly decreased , which suggested an autosomal recessive inheritance pattern . in cgd patients , neutrophils are able to phagocytose particles normally , but are unable to generate superoxide anions that are essential for microbial killing .
the degree of superoxide anion production is determined partially according to the type of the inheritance pattern2 ) .
therefore the functional and molecular diagnosis of cgd may be useful for predicting the prognosis and deciding the appropriate treatment .
for example , there are several subtypes in gp91phox mutations , which are inherited in the pattern of x - linked form . in the x91 , which accounting for approximately 90% of the x - linked cgd cases ,
nadph oxidase activity is totally abolished because of both the instability of the mrna and protein .
x91 , accounting for less than 10% cases among the x - linked mutations , is a type of promoter mutation that causes 3 - 9% of normal nadph oxidase activity , resulting in later diagnosis and a milder clinical course than x91 .
autosomal recessive cgd , accounting for about 30 - 40% of all cgd cases is caused by the genetic defects in one of the p47phox , p67phox and p22phox .
the microorganisms responsible for the majority of infections in cgd are s. aureus , gram - negative enteric bacilli ( including serratia marcescens , salmonella species , and burkholderia cepacia ) , and aspergillus species .
aspergillus fumigatus infection as shown in this case , accounts for 15% of infections in cgd patients .
it appears to occur because of the failure to clear hyphae by neutrophils ' oxidant mechanisms .
further the defect in phagocytes ' oxidant production is associated with a prolonged inflammatory response , causing granuloma formation3 ) .
, we used noninvasive tests such as bal culture and aspergillus antigen detection without an invasive procedure such as lung tissue biopsy .
bronchoscopy with bal is an established method for the diagnosis of pulmonary infections , especially in immunocompromised patients8 ) . in a study ,
the diagnostic value sensitivity of bronchoscopy is 43% in the cases of histologically proven invasive pulmonary aspergillosis9 ) .
the aspergillus galactomannan antigenemia assay may assist in the diagnosis of aspergillosis with a sensitivity of 81% and a specificity of 89%10 ) .
further , when amphotericin b is being used in therapy , falsenegative results may occur because the antifungal agent suppresses the growth of hyphae9 ) .
we monitored the antigenemia during once - weekly and observed declining values , suggesting successful treatment .
the management of cgd patients includes avoidance of infection with prophylactic antibiotic therapy and aggressive treatment of acute infections and inflammatory complications . in a randomized , non - blinded trial comparing voriconazole versus amphotericin b in the treatment of invasive aspergillosis
, successful outcomes were noted in 52.8% of the patients in the voriconazole group and 31.6% of those in the amphotericin b group11 ) . in our case ,
therapy with voriconazole during the first admission period had to be discontinued because of liver toxicity .
when voriconazole was administered during the second admission period , it proved very effective and was well tolerated .
ifn- prophylaxis reduces the frequency of the serious infections by 70% by increasing the production of superoxides in cgd patients .
stem cell transplantation is curative in cgd9 ) . even in patients with active aspergillus infection , human leukocyte antigen ( hla)-identical
bmt or peripheral blood stem cell transplantation has been successfully performed with granulocyte - colony stimulating factor ( g - csf)-mobilized granulocyte transfusions10 , 12 ) .
however in the absence of an hla - identical family donor , bmt or peripheral blood stem cell transplantation is not recommended9 ) .
a therapeutic alternative for cgd patients with no hla - identical donors is the genetic modification of autologous hematopoietic stem cells ( hsc)13 ) .
although cgd has been successfully corrected in animal models by gene transfer in hscs , similar success have been achieved in humans with cgd . in this report ,
substantial gene transfer in cgd patients ' neutrophils lead to a large number of functionally corrected phagocytes and notable clinical improvement13 ) .
chronic granulomatous disease ( cgd ) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide - generating phagocyte nadph oxidase system , which is essential for killing catalase producing bacteria and fungi , such as aspergillus species , staphylococcus aureus , serratia marcescens , nocardia species and burkholderia cepacia . in case of a history of recurrent or persistent infections , 
 immune deficiency should be investigated . 
 particularly , in the case of uncommon infections such as aspergillosis in early life , cgd should be considered . 
 we describe here a case of cgd that presented with invasive pulmonary aspergillosis in a 2-month - old girl . 
 we confirmed pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid , positive serological test for aspergillus antigen and radiology results . 
 she was successfully treated with amphotericin b and recombinant ifn- initially . 
 six weeks later after discharge , she was readmitted for pneumonia . 
 since there were infiltrates on the right lower lung , which were considered as residual lesions , voriconazole therapy was initiated . 
 she showed a favorable response to the treatment and follow - up ct showed regression of the pulmonary infiltrates .