Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry. Issue 12 (15th July 2015)

• Record Type: Journal Article
• Authors: de Oliveira‐Junior, Edgar Borges; Zurro, Nuria Bengala; Prando, Carolina; Cabral‐Marques, Otavio; Pereira, Paulo Vitor Soeiro; Schimke, Lena‐Friederick; Klaver, Stefanie; Buzolin, Marcia; Blancas‐Galicia, Lizbeth; Santos‐Argumedo, Leopoldo; Pietropaolo‐Cienfuegos, Dino Roberto; Espinosa‐Rosales, Francisco; King, Alejandra; Sorensen, Ricardo; Porras, Oscar; Roxo‐Junior, Persio; Forte, Wilma Carvalho Neves; Orellana, Julio Cesar; Lozano, Alejandro; Galicchio, Miguel; Regairaz, Lorena; Grumach, Anete Sevciovic; Costa‐Carvalho, Beatriz Tavares; Bustamante, Jacinta; Bezrodnik, Liliana; Oleastro, Matias; Danielian, Silvia; Condino‐Neto, Antonio
• Is Part Of: Pediatric blood & cancer. Volume 62:Issue 12(2015:Dec.)
• Page Start: 2101
• Page End: 2107
• Publication Date: 2015-07-15
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.25674
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc25674-sec-0001" sec-type="section"> <title>Aim</title> <p>We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database.</p> </sec> <sec id="pbc25674-sec-0002" sec-type="section"> <title>Results</title> <p>Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD diagnosis was 52.7 months. Recurrent pneumonia was the most frequent clinical condition (76.8%), followed by lymphadenopathy (59.4%), granulomata (49.3%), skin infections (42%), chronic diarrhea (41.9%), otitis (29%), sepsis (23.2%), abscesses (21.7%), recurrent urinary tract infection (20.3%), and osteomyelitis (15.9%). Adverse reactions to bacillus Calmette‐Guérin (BCG) vaccination were identified in 30% of the studied Latin American CGD cases. The genetic diagnoses of the 71 patients revealed 53 patients from 47 families with heterogeneous mutations in the <italic>CYBB</italic> gene (five novel mutations: p.W361G, p.C282X, p.W483R, p.R226X, and p.Q93X), 16 patients with the common deletion c.75_76 del.GT in exon 2 of <italic>NCF1</italic> gene, and two patients with mutations in the <italic>CYBA</italic> gene.</p> </sec> <sec id="pbc25674-sec-0003" sec-type="section"> <title>Conclusion</title> <p>The majority of Latin American CGD patients carry a hemizygous mutation in the <italic>CYBB</italic> gene. They also presented a wide range of clinical manifestations most frequently bacterial and fungal infections of the respiratory tract, skin, and lymph nodes. Thirty percent of the Latin American CGD patients presented adverse reactions to BCG, indicating that this vaccine should be avoided in these patients. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>