Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.

The family of CD1 molecules is structurally similar to MHC class I molecules, but the 2 protein families mediate fundamentally different immune functions. MHC class I molecules present peptides to T cells, whereas CD1 molecules present lipids to natural killer T cells and other CD1-restricted T cell...

Full description

Bibliographic Details
Main Authors: Cerny, D, Thi Le, D, The, T, Zuest, R, Kg, S, Velumani, S, Khor, C, Mori, L, Simmons, C, Poidinger, M, Zolezzi, F, Ginhoux, F, Haniffa, M, Wills, B, Fink, K
Format: Journal article
Language:English
Published: Elsevier 2016
_version_ 1797078583613587456
author Cerny, D
Thi Le, D
The, T
Zuest, R
Kg, S
Velumani, S
Khor, C
Mori, L
Simmons, C
Poidinger, M
Zolezzi, F
Ginhoux, F
Haniffa, M
Wills, B
Fink, K
author_facet Cerny, D
Thi Le, D
The, T
Zuest, R
Kg, S
Velumani, S
Khor, C
Mori, L
Simmons, C
Poidinger, M
Zolezzi, F
Ginhoux, F
Haniffa, M
Wills, B
Fink, K
author_sort Cerny, D
collection OXFORD
description The family of CD1 molecules is structurally similar to MHC class I molecules, but the 2 protein families mediate fundamentally different immune functions. MHC class I molecules present peptides to T cells, whereas CD1 molecules present lipids to natural killer T cells and other CD1-restricted T cells.1 CD1a is highly expressed on human Langerhans cells (LCs), a specialized mononuclear phagocyte that is prevalent in the epithelial cell layer of the skin and mucosal surfaces. Epidermal LCs can function as classical antigen-presenting cells (APCs) to induce naive T-cell responses in draining lymph nodes, but also have a regulatory function in the skin via local induction of regulatory T cells and maintenance of epithelial barrier integrity.2,3 Human dermal dendritic cells (DCs) also express CD1a, but in much lower amounts compared with LCs. CD1a1 dermal DCs, which coexpress CD1c, have been shown to efficiently stimulate CD41 and CD81 T cells in vitro.4,5 However, immune deficiencies due to selective CD1a defects have not been previously described, and it has proved difficult to dissect the specific role of CD1a in immune regulation.
first_indexed 2024-03-07T00:34:00Z
format Journal article
id oxford-uuid:80c3551b-4d71-4327-b251-d75a33bb4eff
institution University of Oxford
language English
last_indexed 2024-03-07T00:34:00Z
publishDate 2016
publisher Elsevier
record_format dspace
spelling oxford-uuid:80c3551b-4d71-4327-b251-d75a33bb4eff2022-03-26T21:25:40ZComplete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:80c3551b-4d71-4327-b251-d75a33bb4effEnglishSymplectic Elements at OxfordElsevier2016Cerny, DThi Le, DThe, TZuest, RKg, SVelumani, SKhor, CMori, LSimmons, CPoidinger, MZolezzi, FGinhoux, FHaniffa, MWills, BFink, KThe family of CD1 molecules is structurally similar to MHC class I molecules, but the 2 protein families mediate fundamentally different immune functions. MHC class I molecules present peptides to T cells, whereas CD1 molecules present lipids to natural killer T cells and other CD1-restricted T cells.1 CD1a is highly expressed on human Langerhans cells (LCs), a specialized mononuclear phagocyte that is prevalent in the epithelial cell layer of the skin and mucosal surfaces. Epidermal LCs can function as classical antigen-presenting cells (APCs) to induce naive T-cell responses in draining lymph nodes, but also have a regulatory function in the skin via local induction of regulatory T cells and maintenance of epithelial barrier integrity.2,3 Human dermal dendritic cells (DCs) also express CD1a, but in much lower amounts compared with LCs. CD1a1 dermal DCs, which coexpress CD1c, have been shown to efficiently stimulate CD41 and CD81 T cells in vitro.4,5 However, immune deficiencies due to selective CD1a defects have not been previously described, and it has proved difficult to dissect the specific role of CD1a in immune regulation.
spellingShingle Cerny, D
Thi Le, D
The, T
Zuest, R
Kg, S
Velumani, S
Khor, C
Mori, L
Simmons, C
Poidinger, M
Zolezzi, F
Ginhoux, F
Haniffa, M
Wills, B
Fink, K
Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title_full Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title_fullStr Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title_full_unstemmed Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title_short Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
title_sort complete human cd1a deficiency on langerhans cells due to a rare point mutation in the coding sequence
work_keys_str_mv AT cernyd completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT thiled completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT thet completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT zuestr completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT kgs completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT velumanis completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT khorc completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT moril completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT simmonsc completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT poidingerm completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT zolezzif completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT ginhouxf completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT haniffam completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT willsb completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence
AT finkk completehumancd1adeficiencyonlangerhanscellsduetoararepointmutationinthecodingsequence