2020
DOI: 10.1084/jem.20192275
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NCKAP1Ldefects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Abstract: The Nck-associated protein 1–like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage–specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle Eastern origin, recessive mutations in NCKAP1L abolishing protein expression led to immunodeficiency, lymphoproliferatio… Show more

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Cited by 63 publications
(87 citation statements)
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“…Loss of Hem1 and thus WRC function has severe and complex organismic consequences in mice 13,50,65 (see also Figure 1E) and men, 50,66,67 resulting in autoinflammation. Inefficiently cleared pathogens and apoptotic or necrotic cell bodies constitute major sources of inflammation and autoantibodies.…”
Section: Articlementioning
confidence: 99%
“…Loss of Hem1 and thus WRC function has severe and complex organismic consequences in mice 13,50,65 (see also Figure 1E) and men, 50,66,67 resulting in autoinflammation. Inefficiently cleared pathogens and apoptotic or necrotic cell bodies constitute major sources of inflammation and autoantibodies.…”
Section: Articlementioning
confidence: 99%
“…Recently-reported gene defects have been found for most categories of inborn errors of immunity, including novel causes of: SCID ( PAX1 [ 5 , 6 ], SLP76 [ 7 ]); CID ( MCM10 [ 8 ], IL6ST [ 9 11 ]); Predominantly antibody deficiencies ( FNIP1 [ 14 , 15 ], PIK3CG [ 16 , 17 ], CTNNBL1 [ 18 ], TNFSF13 [ 19 ]); Autoinflammatory diseases ( SOCS1 [ 20 22 ], TET2 [ 23 ], CEBPE [ 24 ], CDC42 [ 33 39 ], LSM11 , RNU7–1 [ 32 ], STAT2 [ 40 , 41 ], RIPK1 [ 42 , 43 ], NCKAP1L [ 44 46 ]), UBA1 (somatic mutations) [ 47 ]; and Susceptibility to infection with specific pathogens ( MAPK8 [ 31 ]; TBX21 [ 25 ], IFNG [ 26 ], NOS2 [ 28 ], SNORA31 [ 29 ], ATG4A , MAP1LC3B2 [ 30 ]) (Table 1 ). …”
Section: Novel Causes Of Inborn Errors Of Immunitymentioning
confidence: 99%
“…Autoinflammatory diseases ( SOCS1 [ 20 22 ], TET2 [ 23 ], CEBPE [ 24 ], CDC42 [ 33 39 ], LSM11 , RNU7–1 [ 32 ], STAT2 [ 40 , 41 ], RIPK1 [ 42 , 43 ], NCKAP1L [ 44 46 ]), UBA1 (somatic mutations) [ 47 ]; and…”
Section: Novel Causes Of Inborn Errors Of Immunitymentioning
confidence: 99%
“…Nck-associated protein 1-like, encoded by nckap1l, is highly conserved from invertebrates to mammals (Baumgartner et al, 1995). The deficiency in nckap1l caused anomalies in lymphocyte development, phagocytosis and neutrophil migration in zebrafish and mouse (Tell et al, 2012;Haney et al, 2018;Castro et al, 2020). However, the expression level for all the genes except for inf-γ and tlr-1 was boosted for at least two-folds in the presence of succinate following phagocytosis (Figure 6).…”
Section: Succinate Enhances Immune Response In Monocytes/macrophagesmentioning
confidence: 99%