Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant.
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of Burkholderia cepacia from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT), made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91 (phox) expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.
Immunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, 04530 Mexico City, DF, Mexico ; Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France.
Saul Oswaldo
0000-0002-3730-4150
SO
Lugo Reyes
French Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France ; Pediatric Immunology-Hematology Unit, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France.
Nizar
0000-0002-0030-8094
N
Mahlaoui
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA ; Bioinformatics Laboratory, Pelé Pequeno Principe Research Institute, 80250-060 Curitiba, PR, Brazil.
Carolina
C
Prando
Immunodeficiencies Research Unit, National Institute of Pediatrics, Coyoacan, 04530 Mexico City, DF, Mexico ; Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France.
Lizbeth
L
Blancas Galicia
Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France.
Marjorie
M
Hubeau
Pediatric Immunology-Hematology Unit, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France.
Stéphane
S
Blanche
Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France ; French Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France ; Pediatric Immunology-Hematology Unit, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France.
Capucine
C
Picard
Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France ; Pediatric Immunology-Hematology Unit, Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, New York, NY 10065, USA.
Jean-Laurent
JL
Casanova
Laboratory of Human Genetics of Infectious Diseases, INSERM U980, University Paris Descartes, Paris Sorbonne Cité, 75014 Paris, France ; French Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants Malades University Hospital, AP-HP, 75015 Paris, France.
Jacinta
J
Bustamante