This patient was a 1.5-year-old boy of Arab ethnicity, born to healthy non-consanguineous parents, and has one healthy older sister.
From early infancy, the patient experienced failure to thrive, had milk allergy with bloody stools, lymphadenopathy, and splenomegaly.
Elevated immunoglobulins, T and B cell numbers were normal (4,821 and 3,304 cells/mm3, respectively); test result of Bacillus Calmette-Gueri (BCG) vaccine-positive (The patient had axillary lymphadenopathy, which was positive to BCG.). There was altered neutrophil function as determined by using the DHR test.
A hemizygote CYBB (GP91) stop codon mutation (c.388C > T, p. Arg130Ter) was found.
Chronic granulomatous disease (CGD) X-linked, BCGitis.
TMP-SMZ, itraconazole, tuberculosis (BCGitis)-triple antibiotic therapy with isoniazid, rifampin, and ethambutol.
At 10 months of age, the patient presented with erythematous papules and nodules on the buttocks, which spread to the inguinal areas and his back (Figure 8A). In addition, he had an erythematous purulent nodule in the left inguinal region and bilateral lymphadenopathy. The clinical differential diagnosis included inflammatory conditions (granulomas, sarcoidosis) or an atypical infection (mycobacterial, fungal, or viral).
Skin biopsy:(1) suppurative dermatitis with scale crust and epidermal micro-abscess formation. Periodic acid- Schiff (PAS), Giemsa (GMZ), Ziehl- Neelsen (ZN), and HSV stains were negative. (2) Consistent with MCV. PCR test result was positive for MCV.
Culture of pus drained from a left inguinal abscess grew Klebsiella pneumonia.
An ultrasound of the inguinal area was notable for left inguinal phlegmon with hyperemic lymph nodes up to 20 mm.
The patient was treated with weekly cidofovir (5 mg/kg) for 4 weeks, IV vancomycin and piperacillin-tazobactam, and topical antibiotics with good response (Figure 8B).
CGD is characterized by the absence or malfunction of the Nicotine adenine dinucleotide phosphate (NADPH) oxidase in phagocytic cells. CGD patients suffer from recurrent, life-threatening bacterial and fungal infections. There are limited reports of severe viral diseases such as those reported by us in this series. Bone marrow stem cell transplantation is currently the only curative treatment.