Monica Soares De Souza, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Aniela Bonorino Xexeo Castelo Branco, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Mara Morelo Rocha Felix, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Monica De Britto Pereira Bandeira De Mello, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Karla Do Carmo Ferrão, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Jaqueline Ribeiro Toscano De Brito, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Cintia Bordalo, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Marinauria Leal Pinto, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Sônia Hoana Silva, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Raquel Grinapel, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Jaqueline Coser Vianna, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Anibal Guedes Neto, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Maria Marta De Brito Ferreira Da Costa, MD
,
Pediatric Allergy and Immunology, Federal Hospital of Servidores Do Estado, Rio de Janeiro, Brazil
Antonio Condino-Neto, MD PhD
,
Department of Immunology, University of São Paulo, Sao Paulo, Brazil
Background: CGD is the most common Phagocyte Immunodeficiency. The disease is characterized by frequent bacterial and fungal infections and granuloma formation in the tissues. It is a defect at the NADPH oxidase system, culminating with phagocytes inhability to produce superoxide, resulting in a defective response to erradicate microrganisms such as
Staphylococcus aureus, Pseudomonas spp, Nocardia spp, Aspergillus sp and Candida sp.. The involvement of vital organs increases morbidity and mortality. Prophylaxis with interferon gamma doesn´t appear to be benefic to all patients. The actual recomended prophylaxis are Itraconazole and Sulfamethoxazole and Trimethoprim (SMZ/TMP). There has been a few advances in the diagnosis and treatment of the disease, with researches in gene therapy and bone marrow transplantation, but there are no well-defined protocols to present date.
Methods: Case report with literature review.
Results: SRC, fem, 9 months old, was admitted at HFSE with pneumonia, failure to thrive and a history of visible mass in the dorsal thoracic region. The mass has been progressively increasing since 3 months old. She also had history of sepsis (community MRSA isolated from blood cultures), recurrent pneumonia (requiring ventilatory support) and cutaneous abscesses. She was hospitalized for 5 months and evaluated by oncology, which excluded neoplasms. Three biopsies were performed, demonstrating chronic inflammatory infiltrate. She was diagnosed with chronic osteomyelitis resulting in deformity of cervical-thoracic spine. A therapeutic trial with rifampicin, pyrazinamide, isoniazid was iniciated due to suspicion of Pott's disease after no response to broad-spectrum antibiotics. She had no epidemiological history of tuberculosis. Etambutol was later associated due to suspicion of Micobacterium bovisinfection, which leaded to involution of mass and clinical improvement. The evaluation for humoral and cellular immunological systems were within normal limits. The diagnosis of CGD was proven by Dihidrorrodamine test. For prophylaxis, SMZ/TMP were introduced, associated with Itraconazole, obtaining good clinical outcome.
Conclusions: In developing countries BCG vaccination is a routine in order to prevent severe cases of tuberculosis. M bovis infeccion should prompt the diagnosis of Primary Immunodeficiency, especially CGD.
