Chronic granulomatous disease: a case report
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1
Health, Immunology, Cuba
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2
Health, Genetic, Cuba
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3
Health, Pediatric, Cuba
Chronic granulomatous (CGD) disease is a genetically determined (inherited) disease characterized by an inability of the body’s phagocyte cells, to make hydrogen peroxide and other oxidants needed to kill certain micro-organisms. As a result of this defect in phagocyte cell-killing, patients with CGD, have an increase susceptibility to infections caused by certain bacteria and fungi. The condition is also associated with an excessive accumulation of immune cells into aggregates, which are called granulomas (hence the name of the disease), at sites of infection or other inflammation. A case of a 3 year-old male patient is presented, who was treated at birth with antibiotics by parenteral route because he suffered from impetigo contagiosa. At one month old he was hospitalized presenting suppurated acute bilateral otitis media. Subsequently he had another hospitalization due to a viral meningoencephalitis and pneumonia with a pleural reaction, presenting sequela of various pneumatoceles. At three months old appeared suppuration in the BCG puncture site (BCGitis) and an important suppurated adenitis in the left cervical region. He maintains the recurrent infections: diarrhoeas, flu, pneumonias, anaemia during the course of infections, arthritis as an autoimmune phenomenon, pityriasis alba and atopic dermatitis, abscesses and furuncles, along with suppurated adenopathies in the neck, gingivostomatitis and oral cankers. At physical examination he presented a mucous paleness, peribuccal cyanosis, hepatosplenomegaly and corpuscular abdomen. As a remarkable aspect he presented delayed and abnormal abscesses of the lymphatic ganglia. Immunologic studies showed normal concentrations of serum (Igm) immunoglobulins (Ig): _1.65g/L (0.69-2.69g/L), IgA: 1.42 g/L (1.58-3.94g/L) and IgE: 4.33g/L, of IgG:-12.96 g/L (7.81-15.30g/L) respectively, with a mild increase of C3 (2.21g/L) normal: (0.9-1.7g/L) and C4 (0.0g/L) normal: (0.2-0.4g/L), in that order. The positive lymphocyte subpopulations T CD3/CD4 and CD3/CD8 were normal: 13.59% (8-24%). Microbiological studies were carried out where the existence of Aspergillus in the biopsy of lymphatic ganglia and positive Staphylococcus coagulase in skin abscesses were observed, along with Staphylococcus epidermis in bronchial aspirations during an admission in the ICU, as well as radiological studies where the presence of three important pneumonias was verified, one of them with pleural effusion. In the last year of intensive treatment the boy has not presented severe septic charts. Concluding that, he suffered from a Chronic Granulomatous Disease (pending study of Nitroblue tetrazolium test-NBT). The treatment includes the use of potent antimicrobial, transfer factor, gammaglobulins, vitamins and interferon-gamma, the use of this combined therapy has allowed a decrease in the frequency and intensity of infections. Te pattern of inheritance in this case is suspected to an X-linked disease, given that there is not consanguinity history in his parents, but the mother presents mild levels of the disease. The boy has a younger sister who is asymptomatic up to the present. The early diagnosis and treatment of the Chronic Granulomatous Disease resulted in a diminution of complications in this patient and his survival.
Keywords:
chronic granulomatous disease,
Phagocyte cells,
granulomas,
Recurrent infections,
Primary immunodeficiency
Conference:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.
Presentation Type:
Poster Presentation
Topic:
Immunodeficiencies
Citation:
Orraca Castillo
O,
Quintero Pérez
W,
Peáez Yáñez
LA,
Orraca Castillo
M,
Menéndez García
R and
Pérez Monterrey
MV
(2015). Chronic granulomatous disease: a case report.
Front. Immunol.
Conference Abstract:
IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología.
doi: 10.3389/conf.fimmu.2015.05.00119
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Received:
12 May 2015;
Published Online:
14 Sep 2015.
*
Correspondence:
Dr. Odalys Orraca Castillo, Health, Immunology, Pinar del Río, Pinar del Río, 20100, Cuba, anadalys@princesa.pri.sld.cu