Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency

Rheumatology International
Sezgin SahinOzgur Kasapcopur

Abstract

Deficiency of adenosine deaminase type 2 (DADA2) is a rare form of autoinflammatory disorder with limited reported cases. In this paper, we have presented the clinico-immunological, radiological and genetic characteristics of five surviving and three deceased childhood-onset DADA2 patients. We aimed to compare surviving and deceased patients in terms of clinical features and treatment modalities. Moreover, we have evaluated the causes of death in our DADA2 subjects together with the previously reported cases. Demographic features, clinical characteristics, imaging findings, mutations and pharmacological treatments of DADA2 subjects were noted from patient records of pediatric and adult rheumatology clinics in a retrospective and longitudinal nature. Eight patients from seven families were enrolled. While five of them were surviving, three of them had died due to various reasons. Median age of the patients at disease onset and diagnosis was 7 years (range 0.5-13 years) and 14 years (range 5-27 years), respectively. The main clinical manifestations were cutaneous findings (7/8), recurrent low-grade fever (6/8), neurological involvement (6/8) and gastrointestinal involvement (5/8). All patients had increased acute phase reactants ...Continue Reading

References

Jul 30, 2011·Rheumatology International·Armen Yuri GasparyanGeorge D Kitas
Feb 21, 2014·The New England Journal of Medicine·Qing ZhouIvona Aksentijevich
Feb 21, 2014·The New England Journal of Medicine·Paulina Navon ElkanEphrat Levy-Lahad
Apr 17, 2014·European Journal of Pediatrics·Nisha GargMustafa Tekin
Jul 31, 2014·The New England Journal of Medicine·Bronner P GonçalvesPatrick E Duffy
Jul 31, 2014·The New England Journal of Medicine·Charles J Woodrow, Arjen M Dondorp
Oct 4, 2014·Pediatric Rheumatology Online Journal·Alexandre BelotYanick J Crow
Jul 2, 2015·JAMA Dermatology·Tania M Gonzalez SantiagoLawrence E Gibson
Feb 13, 2016·Rheumatology·Joris M Van MontfransMarielle E Van Gijn
Feb 26, 2016·Journal of Neurology·Fabiano de Oliveira PoswarJonas Alex Morales Saute
Feb 29, 2016·Journal of Clinical Immunology·Johanna ScheppBodo Grimbacher
Apr 10, 2016·Arthritis & Rheumatology·Sira NanthapisalPaul A Brogan
May 1, 2016·The Journal of Allergy and Clinical Immunology·Amy P HsuDennis D Hickstein
Aug 16, 2016·The Journal of Pediatrics·Tal Ben-AmiPolina Stepensky
Sep 10, 2016·Pediatric Rheumatology Online Journal·Roberta CaorsiMarco Gattorno
Dec 27, 2016·Neuropediatrics·Miriam ElbrachtMartin Häusler
Feb 24, 2017·Journal of Pediatric Hematology/oncology·Hasan HashemJignesh Dalal

❮ Previous
Next ❯

Citations

Apr 7, 2018·International Journal of Rheumatic Diseases·Andrea Human, Christian Pagnoux
Oct 5, 2017·Blood·Hasan HashemUNKNOWN Deficiency of Adenosine Deaminase Type 2 Foundation
Oct 11, 2019·Current Opinion in Rheumatology·Sezgin SahinOzgur Kasapcopur
Dec 19, 2019·Journal of Clinical Immunology·Ayşe TanatarNuray Aktay Ayaz
Jul 2, 2019·Internal Medicine Journal·Fiona Moghaddas
Oct 17, 2017·Rheumatology International·Avinash JainVir Singh Negi
Dec 20, 2018·Immunological Reviews·Leen MoensIsabelle Meyts
Jan 4, 2019·Rheumatology International·Amra Adrovic, Ozgur Kasapcopur
Jun 29, 2018·Journal of Clinical Immunology·Isabelle Meyts, Ivona Aksentijevich
Aug 28, 2020·Current Rheumatology Reports·Jennifer Lee Kendall, Jason Michael Springer
Feb 18, 2020·Pediatric Radiology·María NavallasOscar M Navarro
Sep 7, 2018·Clinical Science·Fiona Moghaddas, Seth L Masters
Sep 7, 2020·Arthritis & Rheumatology·Aman SharmaPui Y Lee
Feb 27, 2021·AJNR. American Journal of Neuroradiology·A F GeraldoM Severino
Mar 25, 2021·Pediatric Rheumatology Online Journal·Wei WangHongmei Song
Apr 2, 2021·Clinical Rheumatology·Benzeeta PintoAman Sharma
Jun 2, 2021·Practical Neurology·Apurva SharmaVenugopalan Vishnu
May 27, 2021·BMC Rheumatology·Freda KennedyMaria-Louise Barilla-LaBarca
Jun 19, 2021·The World Allergy Organization Journal·Mario Sánchez-BorgesJose Antonio Ortega Martell
Jul 3, 2021·Neuromuscular Disorders : NMD·Diogo Reis CarneiroGustavo C Santo
Dec 1, 2021·Journal of Investigative Medicine High Impact Case Reports·Reem AlbalawiNaif Albolowi

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.