Abstract
Female carriers with X-linked chronic granulomatous disease (XL-CGD) who have < 10% reactive oxygen species (ROS) production due to profound X-chromosome inactivation (XCI or lyonization) are more susceptible to infections. We assessed ROS production in Taiwanese female carriers with XL-CGD to investigate whether the level of ROS correlated to their clinical features of infection, autoimmunity, and autoinflammation. Clinical course, ROS production, flavocytochrome b558 (Cyto b558) expression, and genetic analysis in carriers were investigated after identifying their index cases between 2004 and 2019. A total of 19 mothers (median 27 years; range 25-60 years) and three of four girls (range 4-6 years) relative to 22 male index XL-CGD cases from 19 unrelated families were enrolled. Approximately half (8/19, 42%) of the mothers had novel one-allele mutations. Twenty-two of the 23 females were carriers. One carrier with de novo [Arg290X]CYBB who suffered from refractory salmonella sepsis and chorioretinitis as an XL-CGD phenotype had extreme XCI, absent Cyto b558 expression, and only 8% ROS production. The remaining carriers had bimodal patterns of Cyto b558 expressions (median 40.2%, 26.8-52.4%) and ROS production (38.3%, range 28....Continue Reading
References
Mar 21, 1992·Lancet·J T CurnutteE Beutler
Oct 1, 1985·The Journal of Clinical Investigation·E S BuescherJ I Gallin
May 27, 1996·Journal of Immunological Methods·L J van PeltB G Bolscher
Jun 4, 1999·The Journal of Pediatrics·D GoldblattI Russell-Eggitt
Oct 26, 1999·Pediatrics International : Official Journal of the Japan Pediatric Society·M Hasui
Jun 9, 2000·Medicine·J A WinkelsteinH Dickler
Jun 9, 2000·Medicine·B H SegalS M Holland
Mar 23, 2001·Annals of Hematology·A Rösen-WolffJ Roesler
Nov 13, 2001·Fertility and Sterility·S UeharaK Okamura
Feb 18, 2003·The Journal of Allergy and Clinical Immunology·Orathai JirapongsananurukThomas A Fleisher
Jun 10, 2003·The Journal of Immunology : Official Journal of the American Association of Immunologists·James B BurrittAlgirdas J Jesaitis
Dec 31, 2003·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Mindy Anderson-CohenJoachim Roesler
Sep 11, 2004·Blood·Wen-I LeeHans D Ochs
Jun 20, 2006·Journal of Clinical Immunology·Wen-I LeeJing-Long Huang
Nov 8, 2006·European Journal of Pediatrics·Sylvie Chollet-MartinBénédicte Gérard
Apr 22, 2009·PloS One·J Merlijn van den BergTaco W Kuijpers
Aug 24, 2010·Blood Cells, Molecules & Diseases·Dirk RoosJohn I Gallin
Oct 16, 2015·Journal of Crohn's & Colitis·Fabian HauckMichael H Albert
Dec 23, 2015·Journal of Genetics·Christine M Disteche, Joel B Berletch
Apr 9, 2016·The Journal of Allergy and Clinical Immunology·Maddalena MigliavaccaMaria Ester Bernardo
Mar 28, 2017·The Journal of Allergy and Clinical Immunology·Alexandra C BattersbyAndrew R Gennery
May 22, 2017·The Journal of Allergy and Clinical Immunology·Beatriz E MarcianoSteven M Holland
Oct 13, 2018·The Journal of Allergy and Clinical Immunology·David C ThomasKenneth G C Smith
Apr 25, 2019·Journal of Investigational Allergology & Clinical Immunology·I López-HernándezL Blancas-Galicia
Nov 7, 2019·Current Opinion in Pediatrics·Raissa Lacerda-PontesAntonio Condino-Neto
Nov 21, 2019·Journal of Clinical Immunology·Xiaoying HuiXiaochuan Wang
Dec 22, 2019·Journal of Clinical Immunology·Federica PulvirentiBaldassarre Martire
Jan 29, 2020·Nature Medicine·Donald B KohnUNKNOWN Net4CGD consortium