Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey

Rheumatology ◽  
2019 ◽  
Author(s):  
Rabia Miray Kisla Ekinci ◽  
Sibel Balci ◽  
Michael Hershfield ◽  
Atil Bisgin ◽  
Dilek Dogruel ◽  
...  
Keyword(s):  
Treatment Outcomes ◽  
Adenosine Deaminase ◽  
Clinical Manifestations ◽  
Case Series ◽  
Adenosine Deaminase 2

scholarly journals Clinical Manifestations and Treatment Outcomes of Syphilitic Uveitis in a Chinese Population

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Rui Zhang ◽  
Jiang Qian ◽  
Jie Guo ◽  
Yifei Yuan ◽  
Kang Xue ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Treatment Outcomes ◽  
Chinese Population ◽  
Retinal Vasculitis ◽  
Clinical Manifestations ◽  
Case Series ◽  
Posterior Uveitis ◽  
Retrospective Case ◽  
Serological Tests ◽  
Immunodeficiency Virus

Purpose. To describe the clinical manifestations and treatment outcomes of syphilitic uveitis in a Chinese population.Methods. This is a retrospective case series of 15 consecutive patients with syphilitic uveitis treated at a uveitis referral center between 2012 and 2015.Results. Fifteen patients were diagnosed with syphilitic uveitis based on positive serological tests. Nine patients were male. Coinfection with human immunodeficiency virus was detected in two patients. Twenty eyes presented with panuveitis and all patients had posterior involvement. The most frequent manifestations were retinal vasculitis and papillitis, while syphilitic posterior placoid chorioretinitis was only found in three eyes. All patients received systemic penicillin therapy according to CDC guidelines. Nine patients were misdiagnosed before presenting to our center and the delay in treatment with penicillin was associated with poor final visual outcomes (P<0.05).Conclusions. In our series, both male and female were almost equally affected and coinfection of syphilis with human immunodeficiency virus was uncommon. All patients in this study had posterior involvement and the most common manifestations were retinal vasculitis and papillitis. Syphilis should be considered as an important differential diagnosis especially for posterior uveitis and panuveitis. Early diagnosis and appropriate treatment are important for visual prognosis.

FRI0259 A Case Series of Adenosine Deaminase 2 Deficient Patients Emphasizing Genotype-Phenotype Correlations

2015 ◽  
Vol 74 (Suppl 2) ◽  
pp. 518.2-518
Author(s):  
E.D. Batu ◽  
O. Karadag ◽  
E.Z. Taskiran ◽  
U. Kalyoncu ◽  
I. Aksentijevich ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Case Series ◽  
Adenosine Deaminase 2

scholarly journals A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

2015 ◽  
Vol 13 (Suppl 1) ◽  
pp. P62
Author(s):  
ED Batu ◽  
O Karadag ◽  
EZ Taskiran ◽  
U Kalyoncu ◽  
I Aksentijevich ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Case Series ◽  
Adenosine Deaminase 2

THE MANY FACES OF AUTOINFLAMMATION: ADENOSINE DEAMINASE 2 (DADA2) DEFICIENCY IN A 12 YEAR OLD

2021 ◽  
Vol 100 (2) ◽  
pp. 246-253
Author(s):  
A.L. Kozlova ◽  
◽  
Z.A. Nesterenko ◽  
K.K. Egorova ◽  
N.Yu. Kan ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Bone Marrow Failure ◽  
Clinical Manifestations ◽  
Adenosine Deaminase Deficiency ◽  
Systemic Inflammatory Reaction ◽  
The World ◽  
Pathogenetic Therapy ◽  
Adenosine Deaminase 2 ◽  
The Many ◽  
Historical References

This article is dedicated to one of the auto-respiratory syndromes – adenosine deaminase deficiency 2 (deficiency of adenosine deaminase 2 – DADA2) in the 12-year-old. This rare disease is caused by mutations in the ADA2 gene (CECR1), that encodes the ADA2 protein. Clinical manifestations of DADA2 are very diverse and usually include systemic inflammatory reaction in the form of fever attacts, vasculopathy in the form of livedo reticulum, polyarteritis nodosa, ischemic and/or hemorrhagic strokes, as well as signs of immunodeficiency with hypogammaglobulinemia and bone marrow failure. Complex pathogenetic mechanisms, variety of clinical manifestations complicate both diagnosis of the disease and trial of pathogenetic therapy in patients with DADA2. The article describes DADA2 patient care, as well as provides present state analysis of the DADA2 problem in the world, including terminology, historical references, pathogenesis, diagnosis problems and clinical manifestations.

scholarly journals FRI0472 DIAGNOSIS AND MANAGEMENT OF ADENOSINE DEAMINASE 2 DEFICIENCY CHILDREN: THE EXPERIENCE FROM CHINA

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 833.1-833
Author(s):  
W. Wang ◽  
T. Zhang ◽  
L. Wang ◽  
H. Song
Keyword(s):  
Enzyme Activity ◽  
Adenosine Deaminase ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Primary Immunodeficiency Disease ◽  
Enzymatic Analysis ◽  
College Hospital ◽  
Hematopoietic Stem ◽  
Medical College ◽  
Adenosine Deaminase 2

Background:Adenosine deaminase 2 deficiency (DADA2) is a rare antoinflammatory disease caused by mutations in ADA2 gene, few Chinese cases have been reported.Objectives:To describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and foreign cases.Methods:Primary immunodeficiency disease Panel or Whole Exome Sequencing was performed to suspected subjects, and assays for adenosine deaminase 2(ADA2) enzyme activity were also carried out to them and their parents. Case reports of Chinese and foreign patients with DADA2 were searched from PubMed and Chinese domestic databases.Results:Seven unrelated DADA2 children from China were included in our study, 5 were identified at Peking union medical college hospital and 2 had been reported previously (1 on PubMed and 1 in Chinese literatures). 14 mutations in ADA2 were identified, and 9 of which have not been found in other countries. Four children receiving enzymatic analysis had lower ADA2 enzyme activity compared to their parents. Phenotypic manifestations included fever, skin symptoms, vasculitis, neurologic involvement, et al. The treatments varying from steroids, immunosuppressants, and tocilizumab, anti-TNF therapy and hematopoietic stem cell transplantation (HSCT) were effective depending on different phenotype and severity.Conclusion:This study includes the biggest number of Chinese DADA2 patients at present. We recommend combination of enzymatic analysis with gene screening to confirm the diagnosis. Genotypes of patients from China were some different, the clinical manifestations were similar. We suggest anti-TNF therapy may not be necessary for mild case and HSCT should be considered even without hematological phenotype.References:[1]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;370:911-920.[2]Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018;38:569-578.[3]Wang XN, Zhou ZX, Li SN, Lai JM, Su GX, Kang M, et al. A case report of DADA2. Chin J Rheumatol. 2019;23:476-478.[4]Liu L, Wang W, Wang Y, Hou J, Ying W, Hui X, et al. A Chinese DADA2 patient: report of two novel mutations and successful HSCT. Immunogenetics. 2019;71:299-305.Disclosure of Interests:None declared

scholarly journals A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

2015 ◽  
Vol 42 (8) ◽  
pp. 1532-1534 ◽  
Author(s):  
EZGI DENIZ BATU ◽  
OMER KARADAG ◽  
EKIM ZIHNI TASKIRAN ◽  
UMUT KALYONCU ◽  
IVONA AKSENTIJEVICH ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Case Series ◽  
Adenosine Deaminase 2

scholarly journals A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

2021 ◽  
pp. 340-347
Author(s):  
Clara Pardinhas ◽  
Gustavo Santo ◽  
Luís Escada ◽  
Jorge Rodrigues ◽  
Maria Rosário Almeida ◽  
...  
Keyword(s):  
Renal Insufficiency ◽  
Adenosine Deaminase ◽  
Autosomal Recessive ◽  
Autoinflammatory Disease ◽  
Clinical Manifestations ◽  
Loss Of Function ◽  
Childhood Onset ◽  
Amyloid A ◽  
Inflammatory State ◽  
Adenosine Deaminase 2

Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF inhibitors seem to have efficacy on the vasculitic phenotype of DADA2. We present a case of a 28-year-old woman with a lifelong unknown syndrome and unique clinical manifestations recently recognized as DADA2. The first manifestation, at 3 months of age, was an episode of facial paralysis during which renovascular hypertension was diagnosed. Later, she developed episodes of prolonged fever, polyarthritis, Raynaud’s phenomenon, gastrointestinal bleeding, and intracerebral hemorrhage. This inflammatory state ultimately led to the development of amyloid A amyloidosis and renal insufficiency.

scholarly journals Lentiviral correction of enzymatic activity restrains macrophage inflammation in adenosine deaminase 2 deficiency

2021 ◽  
Vol 5 (16) ◽  
pp. 3174-3187
Author(s):  
Matteo Zoccolillo ◽  
Immacolata Brigida ◽  
Federica Barzaghi ◽  
Serena Scala ◽  
Raisa Jofra Hernández ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Enzymatic Activity ◽  
Adenosine Deaminase ◽  
Systemic Inflammation ◽  
Lentiviral Vector ◽  
Clinical Manifestations ◽  
Hematopoietic Stem ◽  
Functional Correction ◽  
Adenosine Deaminase 2

Abstract Adenosine deaminase 2 deficiency (DADA2) is a rare inherited disorder that is caused by autosomal recessive mutations in the ADA2 gene. Clinical manifestations include early-onset lacunar strokes, vasculitis/vasculopathy, systemic inflammation, immunodeficiency, and hematologic defects. Anti–tumor necrosis factor therapy reduces strokes and systemic inflammation. Allogeneic hematopoietic stem/progenitor cell (HSPC) transplantation can ameliorate most disease manifestations, but patients are at risk for complications. Autologous HSPC gene therapy may be an alternative curative option for patients with DADA2. We designed a lentiviral vector encoding ADA2 (LV-ADA2) to genetically correct HSPCs. Lentiviral transduction allowed efficient delivery of the functional ADA2 enzyme into HSPCs from healthy donors. Supranormal ADA2 expression in human and mouse HSPCs did not affect their multipotency and engraftment potential in vivo. The LV-ADA2 induced stable ADA2 expression and corrected the enzymatic defect in HSPCs derived from DADA2 patients. Patients’ HSPCs re-expressing ADA2 retained their potential to differentiate into erythroid and myeloid cells. Delivery of ADA2 enzymatic activity in patients’ macrophages led to a complete rescue of the exaggerated inflammatory cytokine production. Our data indicate that HSPCs ectopically expressing ADA2 retain their multipotent differentiation ability, leading to functional correction of macrophage defects. Altogether, these findings support the implementation of HSPC gene therapy for DADA2.

scholarly journals Treatment Outcomes of Lesser Tuberosity Osteotomy Nonunion After Total Shoulder Arthroplasty

2018 ◽  
Vol 2 ◽  
pp. 247154921880777
Author(s):  
Zachary J Bloom ◽  
Cesar D Lopez, BA ◽  
Stephen P Maier ◽  
Brian B Shiu ◽  
Djuro Petkovic ◽  
...  
Keyword(s):  
Treatment Outcomes ◽  
Shoulder Arthroplasty ◽  
Surgical Repair ◽  
Total Shoulder Arthroplasty ◽  
Case Series ◽  
Radiographic Evaluation ◽  
Lesser Tuberosity ◽  
Conservative Care ◽  
Conservative Group

Introduction Lesser tuberosity osteotomy (LTO) during anatomic total shoulder arthroplasty has a 13% nonunion rate. Treatment for LTO nonunion is controversial and poorly described in the literature. The purpose of this study was to compare the surgical and nonsurgical treatment outcomes of LTO nonunion. Methods A retrospective case series of 9 consecutive patients with LTO nonunion after primary anatomic shoulder arthroplasty at 1 institution from 2010 to 2016 were studied. Outcomes measured were radiographic evaluation of LTO on axillary X-ray, clinical range of motion (ROM), subscapularis strength, and pain at the time of LTO nonunion diagnosis and after either conservative care or surgical repair of the LTO nonunion. Results LTO nonunion was treated surgically in 4 and conservatively in 5 patients with average follow-up of 30 and 22 months, respectively. There were no significant differences in age, sex, or smoking status between groups. Treatment decision was a shared model of surgeon and patient. Displaced LTO nonunion was treated surgically in 2 and conservatively in 3 patients. There were no differences in LTO union rate of 50% in the surgical versus 60% in the conservative group. Abdominal compression test was abnormal in 50% of surgical versus 40% of conservative groups. At follow-up, ROM was lower in the surgical group with 128° forward elevation (FE) and 33° external rotation (ER) compared to 148° FE and 62° ER. Only 1 patient with LTO nonunion required conversion to reverse replacement. Conclusion LTO nonunion after shoulder arthroplasty is rare. Surgical repair of LTO nonunion does not significantly improve clinical or radiographic outcomes compared to conservative care.

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