Abstract | BACKGROUND: METHODS: Gene mutational analysis was performed by whole-exome and Sanger sequencing. RESULTS: The patient presented with a history of fever and rash since the age of 1 month, followed by destructive osteomyelitis and necrotizing lymphadenopathy. The patient received the Bacillus Calmette-Guérin ( BCG) vaccine at birth; she was subsequently diagnosed with disseminated BCG infection. Whole-exome sequencing identified a private (unreported) homozygous variant in NCF2 (c.290C > A) that results in a nonconservative change, p.Ala97Asp, in the p67phox protein. The variant is located in the third helix of the TRP domain, which is crucial for the binding of GTPase RAC2 to the NADPH oxidase complex. CONCLUSION: We identified a novel NCF2 variant located in the region interacting with RAC2 that is linked to a severe and early CGD phenotype in the setting of disseminated BCG infection. Our findings support postponing BCG vaccination until 6-12 months of age and after PID assessment.
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Authors | Suzan A AlKhater, Caroline Deswarte, Jean-Laurent Casanova, Jacinta Bustamante |
Journal | Molecular genetics & genomic medicine
(Mol Genet Genomic Med)
Vol. 8
Issue 6
Pg. e1237
(06 2020)
ISSN: 2324-9269 [Electronic] United States |
PMID | 32281309
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
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Copyright | © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
Chemical References |
- BCG Vaccine
- NADPH Oxidases
- NCF2 protein, human
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Topics |
- BCG Vaccine
(adverse effects)
- Female
- Granulomatous Disease, Chronic
(complications, genetics)
- Homozygote
- Humans
- Infant
- Mutation
- Mycobacterium Infections, Nontuberculous
(etiology, genetics)
- NADPH Oxidases
(chemistry, genetics)
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