0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Correspondence |

A Novel Mutation in the TAP2 Gene in Bare Lymphocyte Syndrome: Association With Metastatic Cutaneous Squamous Cell Carcinoma

Agustín España, MD; Cecilia González-Santesteban, PhD; Laura Martínez-Martínez, PhD; Ana Bauzá, MD; Oscar de la Calle-Martín, PhD
Arch Dermatol. 2010;146(1):96-98. doi:10.1001/archdermatol.2009.354.
Text Size: A A A
Published online

Extract

Bare lymphocyte syndrome (BLS) is a rare disease characterized by a severe reduction in the cell surface expression of HLA molecules (HLA class I, type I BLS; HLA class II, type II BLS). Patients with BLS-I present with bronchiectasias and skin ulcers associated with granulomatous inflammation.1,2 Synthesis of HLA class I molecules includes transportation of cytoplasmic peptides into the endoplasmic reticulum by the transporter-associated antigen-processing (TAP) heterodimers (TAP1 and TAP2). Peptide-loaded HLA class I molecules may interact with cytotoxic CD8+ T cells, natural killer (NK) cells, and γδ T cells.3 Patients with BLS-I, who have a defective TAP complex, may have 1 of 4 different mutations. Tissue typing and molecular analysis of 15 patients demonstrated that they were homozygous for a defective TAP1 or TAP2 mutation.4

Figures in this Article

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview

Figures

Place holder to copy figure label and caption
Figure 1

Clinical and histopathologic images. A, Extensive plaque and ulcers on the lower right limb. B, Necrotizing granulomas involving dermis and hypodermis (hematoxylin-eosin, original magnification ×20). C, Histiocytes, multinucleate cells, and lymphocytes are present in the infiltrate (hematoxylin-eosin, original magnification ×40). D, Large ulcerated tumor on the right lower limb. E, Histologic findings of squamous cell carcinoma (hematoxylin-eosin, original magnification ×40).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2

Sequence analysis of the TAP2 gene. Detection of the mutation from genomic DNA was performed by polymerase chain reaction amplification of TAP2 exon 3 for the patient (A) (mutant homozygous), a daughter (B) (heterozygous), and a healthy control (C) (native sequence).

Graphic Jump Location

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

122 Views
1 Citations
×

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
Jobs
brightcove.createExperiences();