Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

J, Cottineau; MC, Kottemann; FP, Lach; YH, Kang; F, Vély; EK, Deenick; T, Lazarov; L, Gineau; Y, Wang; A, Farina; M, Chansel; L, Lorenzo; C, Piperoglou; CS, Ma; P, Nitschke; A, Belkadi; Y, Itan; B, Boisson; F, Jabot-Hanin; C, Picard; J, Bustamante; C, Eidenschenk; S, Boucherit; N, Aladjidi; D, Lacombe; P, Barat; W, Qasim; JA, Hurst; AJ, Pollard; HH, Uhlig; C, Fieschi; J, Michon; VP, Bermudez; L, Abel; Villartay JP, de; F, Geissmann; SG, Tangye; J, Hurwitz; E, Vivier; JL, Casanova; A, Smogorzewska; E, Jouanguy

doi:10.1172/jci90727

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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Shared by NobleBlocks on Apr 17, 2017 • 12:00 AM UTC

Authors:

Cottineau J

Kottemann MC

Lach FP

Abstract

Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The associati...

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