Rare Diseases

Current bibliography for experts

"Immunodeficiency" search results...

GAUCHER

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

2022-08-29

It should be borne in mind that cardiac and pulmonary involvement, as well as immune dysfunction in LSDs, may cause an increased need for intensive care because of secondary bacterial infections.

ADA

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID

2020-02-01

Radiological features such as scapular spurring, scapular squaring and costochondral cupping can reliably differentiate between ADA-SCID and other forms of SCID.

ADA

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

2019-03-01

In this study, currently available evidence about ADA-SCID was reviewed and a consensus management strategy was proposed. The outcomes of novel strategies should be evaluated prospectively in real life conditions for the management guidelines.

ADA

Adenosine deaminase deficiency: A review

2018-04-24

This article reviews the biology, clinical presentation, diagnosis and treatment of adenosine deaminase (ADA) deficiency.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

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World Orphan Drug Congress 2025

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Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...