Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 5/2016

01-07-2016 | Letter to Editor

A Case of SLC29A3 Spectrum Disorder—Unresponsive to Multiple Immunomodulatory Therapies

Authors: Anoop Mistry, David Parry, Bipin Matthews, Philip Laws, Mark Goodfield, Sinisa Savic

Published in: Journal of Clinical Immunology | Issue 5/2016

Login to get access

Excerpt

To the editor, …
Literature
1.
Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, Juan Luis S, et al. H syndrome: the first 79 patients. J Am Acad Dermatol. 2013;70:80–8.CrossRefPubMed
2.
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial rosai-dorfman disease. PLoS Genet. 2010;6, e1000833.CrossRefPubMedPubMedCentral
3.
Doviner V, Maly A, Ne’eman QR, Aamar S, Sultan M, et al. H syndrome: recently defined genodermatosis with distinct histologic features: a morphologic, histochemical, immunohistochemical and ultrastructural study of ten cases. Am J Dermatopathol. 2010;32:118–28.CrossRefPubMed
4.
Avitan-Hersh E, Mandel H, Indelman M, Bar-Joseph G, Zlotogorski A, Bergman R. A case of H syndrome immunophenotype similarities of Rosai Dorfman disease. Am J Dermatopath. 2011;33:47–53.CrossRefPubMed
5.
Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A. Zlotogorski A.H. syndrome: novel and recurrent mutations in SLC29A3. Br J Dermatol. 2010;162:1132–4.CrossRefPubMed
6.
Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet. 2009;18:2257–65.CrossRefPubMed
7.
Young JD, Yao SY, Baldwin JM, Cass CE, Baldwin SA. 47The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29. Mol Aspects Med. 2013;34:529–47.CrossRefPubMed
8.
Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, Govindarajan R. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. J Biol Chem. 2010;285:28343–52.CrossRefPubMedPubMedCentral
9.
Hsu CL, Lin W, Seshasayee D, Chen YH, Ding X, Lin Z, et al. Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science. 2011;335:89–92.CrossRefPubMed
10.
Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, et al. Mutation in the SLC29A3 gene: a new cause of a monogenic autoinflammatory condition. Pediatrics. 2013;131:e1308–13.CrossRefPubMed
11.
Senniappan S, Hughes M, Shah P, Shah V, Kaski JP, Brogan P, et al. Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome. Pediatr Endocrinol Metab. 2013;26:877–82.
12.
Fujita E, Komine M, Tsuda H, Adachi A, Murata S, Kamata Y. Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud’s phenomenon with a novel mutation in the SLC29A3 gene. J Dermatol. 2015;42:1169–71.CrossRefPubMed
13.
De Jesus J, Imane Z, Senee V, Romero S, Guillauseau PJ, Balafrej A, et al. SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. Diabetes Metabol. 2013;39:281–5.CrossRef
Metadata
Title
A Case of SLC29A3 Spectrum Disorder—Unresponsive to Multiple Immunomodulatory Therapies
Authors
Anoop Mistry
David Parry
Bipin Matthews
Philip Laws
Mark Goodfield
Sinisa Savic
Publication date
01-07-2016
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-016-0301-6

Other articles of this Issue 5/2016

Journal of Clinical Immunology 5/2016 Go to the issue

Erratum

Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Erratum

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Original Article

Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK

Original Article

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

CME Review

Recent Advances in DOCK8 Immunodeficiency Syndrome

Original Article

Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Heart Failure Video

Year in Review: Heart failure and cardiomyopathies

Watch now

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits