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 ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 10/2018

01-10-2018 | Scientific Letter

Immunodeficiency in a Child with Alström Syndrome

Authors: Taha Resid Ozdemir, Neslihan Edeer Karaca, Jan Davis Marshall, Necil Kutukculer, Guzide Aksu, Riza Koksal Ozgul, Aysegul Ozanturk, Esra Isik, Bilcag Akgun, Hamiyet Hekimci Ozdemir, Sukran Darcan, Ferda Ozkinay, Ozgur Cogulu

Published in: Indian Journal of Pediatrics | Issue 10/2018

Login to get access

Excerpt

To the Editor: Alström Syndrome (ALMS) is a very rare autosomal recessive genetic disorder characterized by childhood obesity, hearing loss, retinopathy, cardiomyopathy, recurrent pulmonary infections, diabetes, and progressive renal, hepatic and endocrinological dysfunction. It is caused by mutations in the ALMS1 gene [1]. Here we present a case diagnosed as ALMS with additional findings including immunodeficiency. …
Literature
1.
2.
3.
Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M. Proteomic characterization of the human centrosome by protein correlation profiling. Nature. 2003;426:570–4.CrossRefPubMed
4.
Hearn T, Spalluto C, Phillips VJ, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes. 2005;54:1581–7.CrossRefPubMed
5.
Zulato E, Favaretto F, Veronese C, et al. ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis. PLoS One. 2011;6:e19081.
Metadata
Title
Immunodeficiency in a Child with Alström Syndrome
Authors
Taha Resid Ozdemir
Neslihan Edeer Karaca
Jan Davis Marshall
Necil Kutukculer
Guzide Aksu
Riza Koksal Ozgul
Aysegul Ozanturk
Esra Isik
Bilcag Akgun
Hamiyet Hekimci Ozdemir
Sukran Darcan
Ferda Ozkinay
Ozgur Cogulu
Publication date
01-10-2018
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 10/2018
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-018-2740-y

Other articles of this Issue 10/2018

Indian Journal of Pediatrics 10/2018 Go to the issue

Editorial Commentary

Ventilator Associated Pneumonia in Children: Current Status and Future Prospects

Review Article

Asthma – A Disease of How We Breathe: Role of Breathing Exercises and Pranayam

Original Article

Tuberculosis Burden among Household Pediatric Contacts of Adult Tuberculosis Patients

Editorial Commentary

Current Knowledge, Attitude and Practice (KAP) of Pediatricians on Infantile Spasms and the Way Forward

Scientific Letter

Child with Isolated Motor Delay: Look at the Neuroimage

Editorial Commentary

Sublingual Immunotherapy in Allergic Rhinitis: Search for a Suitable Biomarker Continues!