Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Carmen Oleaga-QuintasEdgar Borges de Oliveira-JúniorJérémie RosainFranck RapaportCaroline DeswarteAntoine GuérinSairaj Munavar SajjathYu Jerry ZhouStéphane MarotClaire LozanoLidia BrancoNuria Fernández-HidalgoDukhee Betty LewAnne-Sophie BrunelCaroline ThomasElise LaunayAndrés Augusto AriasAlexis CuffelVanesa Cunill MonjoAnna-Lena NeehusLaura MarquesManon RoynardMarcela Moncada-VélezBengü GerçekerRoger ColobranMarie-Gabrielle ViguéGabriela Lopez-HerreraLaura Berron-RuizNora Hilda Segura MéndezPatricia O'Farrill RomanillosTom Le VoyerAnne PuelChristine Bellanné-ChantelotKacy A RamirezLazaro Lorenzo-DiazNoé Ramirez AlejoRebeca Pérez de DiegoAntonio Condino-NetoFethi MellouliCarlos Rodriguez-GallegoTorsten WitteJosé Franco RestrepoMariana JobimStéphanie Boisson-DupuisEric JeziorskiClaire FieschiGuillaume VogtJean DonadieuMarlène PasquetJulia VasconcelosFatma Omur ArdenizMónica Martínez-GalloRegis A CamposLuiz Fernando JobimRubén Martínez-BarricarteKang LiuAurélie CobatLaurent AbelJean-Laurent CasanovaJacinta BustamantePublished in: Journal of clinical immunology (2021)
Clinical penetrance for mycobacterial disease was found to be similar to other GATA2 deficiency-related manifestations. These observations suggest that other mechanisms contribute to the phenotypic expression of GATA2 deficiency. A diagnosis of autosomal dominant GATA2 deficiency should be considered in patients with mycobacterial infections and/or other GATA2 deficiency-related phenotypes at any age in life. Moreover, all direct relatives should be genotyped at the GATA2 locus.