CD83

Overview

CD83 is a transmembrane protein that plays a role in the immune system, particularly in the maturation and function of dendritic cells, T cells, and B cells with a role in regulating immune responses and maintaining immune tolerance.¹ CD83 mutations in B-cell lymphomas have not been as extensively studied as mutations in some other genes. CD83 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. No notable hot spots have been described in this gene in the context of the cancers listed below.

History

Mutations in this gene were first described in DLBCL in 2013 by Morin et al², in BL in 2019 by Panea et al³ and in FL in 2023 by Russler-Germain et al.⁴

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-08-15 : Morin : DLBCL 2019-09-26 : Panea : BL 2021-07-15 : Duns : PMBL 2023-07-26 : Russler : FL

## Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	1-a	aSHM target and high-confidence DLBCL gene
	1-a	aSHM target and high-confidence FL gene
	2-a	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	4.40
DLBCL	Schmitz cohort	5.74
DLBCL	Reddy cohort	5.81
DLBCL	Chapuy cohort	7.26
FL	GAMBL genomes	1.85
BL	GAMBL genomes+capture	1.15
BL	Thomas cohort	1.70
BL	Panea cohort	NA

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	4.396	0.000
DLBCL	Yes	No	4.794	14.227
FL	Yes	No	0.000	25.732

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr6	14118026	14120025	TSS	active_promoter-strong_enhancer

[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2013.² First described in FL in 2023.³

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CD83 Expression

References

Lechmann M, Zinser E, Golka A, Steinkasserer A. Role of CD83 in the immunomodulation of dendritic cells. Int Arch Allergy Immunol. 2002 Oct;129(2):113-8. doi: 10.1159/000065883. PMID: 12403928.
Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256-65. doi: 10.1182/blood-2013-02-483727. Epub 2013 May 22. PMID: 23699601; PMCID: PMC3744992.
Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
Russler-Germain DA, Krysiak K, Ramirez C, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen AF, Mehta-Shah N, Kahl BS, Bartlett NL, Alderuccio JP, Lossos IS, Ondrejka SL, Hsi ED, Martin P, Leonard JP, Griffith M, Griffith OL, Fehniger TA. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Adv. 2023 Sep 26;7(18):5524-5539. doi: 10.1182/bloodadvances.2023010779. PMID: 37493986; PMCID: PMC10514406.