PubMed (OMIM) for id: 1053

Year	Number of Results
1974	2
1979	2
1980	1
1982	1
1984	1
1988	1
1989	1
1995	3
1996	2
1997	3
1999	1
2000	1
2001	1
2007	1
2015	1
2018	1
2019	1
2020	1
2022	1
2024	0

1

A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia.

Banday AZ, Kaur A, Akagi T, Bhattarai D, Muraoka M, Dev D, Das J, Sachdeva MUS, Karmakar I, Arora K, Kaur G, Pandiarajan V, Jindal AK, Wada T, Koeffler HP, Suri D, Ahluwalia J, Kanegane H, Bhatia P, Rawat A, Singh S. Banday AZ, et al. J Clin Immunol. 2022 Oct;42(7):1434-1450. doi: 10.1007/s10875-022-01304-7. Epub 2022 Jun 20. J Clin Immunol. 2022. PMID: 35726044

2

Brain Abscess as Severe Presentation of Specific Granule Deficiency.

Leszcynska M, Patel B, Morrow M, Chamizo W, Tuite G, Berman DM, Potthast K, Hsu AP, Holland SM, Leiding JW. Leszcynska M, et al. Front Pediatr. 2020 Apr 22;8:117. doi: 10.3389/fped.2020.00117. eCollection 2020. Front Pediatr. 2020. PMID: 32391290 Free PMC article.

3

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Göös H, et al. J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13. J Allergy Clin Immunol. 2019. PMID: 31201888 Free PMC article.

4

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.

Serwas NK, Huemer J, Dieckmann R, Mejstrikova E, Garncarz W, Litzman J, Hoeger B, Zapletal O, Janda A, Bennett KL, Kain R, Kerjaschky D, Boztug K. Serwas NK, et al. Front Immunol. 2018 Mar 29;9:588. doi: 10.3389/fimmu.2018.00588. eCollection 2018. Front Immunol. 2018. PMID: 29651288 Free PMC article.

5

A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency.

Wada T, Akagi T, Muraoka M, Toma T, Kaji K, Agematsu K, Koeffler HP, Yokota T, Yachie A. Wada T, et al. J Immunol. 2015 Jul 1;195(1):80-6. doi: 10.4049/jimmunol.1402222. Epub 2015 May 27. J Immunol. 2015. PMID: 26019275 Free article.

6

Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.

Khanna-Gupta A, Sun H, Zibello T, Lee HM, Dahl R, Boxer LA, Berliner N. Khanna-Gupta A, et al. Blood. 2007 May 15;109(10):4181-90. doi: 10.1182/blood-2005-05-022004. Epub 2007 Jan 23. Blood. 2007. PMID: 17244686 Free PMC article.

7

Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.

Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP. Gombart AF, et al. Blood. 2001 May 1;97(9):2561-7. doi: 10.1182/blood.v97.9.2561. Blood. 2001. PMID: 11313242 Free article.

8

Representational difference analysis using myeloid cells from C/EBP epsilon deletional mice.

Kubota T, Kawano S, Chih DY, Hisatake Y, Chumakov AM, Taguchi H, Koeffler HP. Kubota T, et al. Blood. 2000 Dec 1;96(12):3953-7. Blood. 2000. PMID: 11090083 Free article.

9

Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.

Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI. Lekstrom-Himes JA, et al. J Exp Med. 1999 Jun 7;189(11):1847-52. doi: 10.1084/jem.189.11.1847. J Exp Med. 1999. PMID: 10359588 Free PMC article.

10

Impaired granulopoiesis, myelodysplasia, and early lethality in CCAAT/enhancer binding protein epsilon-deficient mice.

Yamanaka R, Barlow C, Lekstrom-Himes J, Castilla LH, Liu PP, Eckhaus M, Decker T, Wynshaw-Boris A, Xanthopoulos KG. Yamanaka R, et al. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13187-92. doi: 10.1073/pnas.94.24.13187. Proc Natl Acad Sci U S A. 1997. PMID: 9371821 Free PMC article.

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