References:
1. Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al.
Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J
Med. 2019;3.
2. Elkan PN, Walsh T, Berkun Y, Hashkes PJ, Yalcinkaya F, Klevit RE, et
al. Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy.
N Engl J Med. 2014;11.
3. Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al.
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2. N
Engl J Med. 2014;10.
4. Aksentijevich I, Moura NS, Barron K. Adenosine Deaminase 2
Deficiency. :23.
5. Montfrans JMV, Hartman EAR, Braun KPJ, Hennekam EAM, Hak EA,
Nederkoorn PJ, et al. Phenotypic variability in patients with ADA2
deficiency due to identical homozygous R169Q mutations. :9.
6. Uettwiller F, Sarrabay G, Rodero MP, Rice GI, Lagrue E, Marot Y, et
al. ADA2 deficiency: case report of a new phenotype and novel mutation in
two sisters. RMD Open. :6.
7. Meyts I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the
Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. :10.
8. Belot A, Wassmer E, Twilt M, Lega J-C, Zeef LA, Oojageer A, et al.
Mutations in CECR1 associated with a neutrophil signature in peripheral
blood. 2014;7.
9. Sahin S. Clinical, imaging and genotypical features of three deceased
and five surviving cases with ADA2 deficiency. Rheumatol Int. :8.
10. Alsultan A, Basher E, Mohammed R, Alfadhel M, Alqanatish J.
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in
the absence of livedo reticularis and vasculitis. :4.
11. Ombrello A, Stone D, Hoffmann P, Jones A, Barham B, Barron K, et al.
The deficiency of adenosine deaminase type 2-results of therapeutic
intervention. :1.
12. Hashem H. Successful reduced intensity hematopoietic cell transplant
in a patient with deficiency of adenosine deaminase 2. :2.
13. Toplak N, Frenkel J, Ozen S, Lachmann HJ, Woo P, Koné-Paut I, et al.
An International registry on Autoinflammatory diseases: the Eurofever
experience. Ann Rheum Dis. :7.