Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.
Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org.
María
M
Bravo García-Morato
Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain; CIBERER, Centre for Biomedical Investigation on Rare Diseases, Madrid, Spain.
Julián
J
Nevado
Immunodeficiencies Unit, Department of Pediatrics, 12 Octubre Institute of Biomedical Research (i+12), Madrid, Spain.
Luis Ignacio
LI
González-Granado
Department of Pediatric Hematology/Oncology, La Paz University Hospital, Madrid, Spain.
Ana
A
Sastre Urgelles
Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
Rebeca
R
Rodríguez Pena
Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
Antonio
A
Ferreira Cerdán
D016241:Child of Impaired Parents; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D009035:Mothers; D009154:Mutation / Q000235:genetics*; D019255:NADPH Oxidases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D024182:Uniparental Disomy
D019255:NADPH Oxidases; C086986:CYBA protein, human