Adenosine deaminase 2 deficiency with a novel variant of CECR1 gene mutation: Responding to tumor necrosis factor antagonist therapy

Mosawi, Zakiya Saleh Al; Abduljawad, Hiba; Busehail, Maryam; Moosawi, Barrak Mahmood Al

doi:10.4103/injr.injr_36_19

Cited by 3 publications

(7 citation statements)

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“…Skin manifestations, of note panarteritis nodosa-like lesions, have been reported from the first descriptions [ 1 , 2 ]. Among the 257 patients with a cutaneous involvement, 180 showed a livedo reticularis or livedo racemose (47.1% of all DADA2 patients) [ 1 , 2 , 4 , 9 , 11 , 12 , 15 , 16 , 22 , 23 , 25 , 26 , 28 – 31 , 34 , 36 , 37 , 40 , 43 , 44 , 46 – 48 , 50 , 52 , 53 , 56 , 59 , 60 , 62 – 64 , 66 , 67 , 69 – 76 , 81 – 83 , 87 , 90 , 91 ], 89 panarteritis nodosa-like lesions (23.5%) [ 1 , 2 , 5 , 9 , 12 , 20 , 21 , 23 , 25 , 26 , 28 , 30 , 31 , 34 , 35 , 38 , 40 , 43 , 44 , 52 , 53 , 60 , 64 , 66 , 69 , 71 …”

Section: Resultsmentioning

confidence: 99%

“…The most frequent neurologic manifestation is the stroke that was reported in 165/378 patients (43.6%) [ 1 , 2 , 4 , 5 , 8 , 11 , 12 , 15 , 16 , 22 , 25 , 26 , 28 – 31 , 34 , 37 , 40 , 41 , 43 , 46 , 48 , 56 – 59 , 62 – 66 , 70 , 71 , 73 – 77 , 80 – 82 , 84 , 85 , 87 – 90 ]. In 146 patients showed ischaemic characteristics, while in 46 haemorrhagic.…”

Section: Resultsmentioning

confidence: 99%

“…The abdominal involvement was described in terms of recurrent abdominal pain, recurrent diarrhoea, gastrointestinal bleeding, intestinal ischaemia, bowel perforation, increased transaminase [ 1 , 2 , 4 , 5 , 8 , 11 , 12 , 16 , 19 , 20 , 22 – 25 , 28 , 30 – 32 , 36 , 37 , 40 , 43 , 45 , 47 , 52 , 56 , 57 , 59 , 63 – 66 , 69 , 72 , 74 , 76 – 78 , 80 , 82 , 87 ].…”

Section: Resultsmentioning

confidence: 99%

“…Arthralgia and arthritis were reported in 134 patients (35.44%) [ 2 , 5 , 7 , 9 , 12 , 16 , 21 , 24 – 26 , 28 – 31 , 36 , 37 , 40 , 43 , 52 , 54 , 56 , 60 – 63 , 65 , 66 , 69 , 71 , 72 , 74 – 76 , 81 – 83 , 85 – 87 ], myalgia in 58 (15.34%) [ 2 , 5 , 20 , 23 , 24 , 28 , 29 , 31 , 36 , 41 , 54 , 57 , 60 , 62 , 63 , 65 , 67 , 69 , 72 , 76 ] and myositis in 10 (2.64%) [ 1 , 61 – 63 , 66 , 71 , 78 , 84 ]…”

Section: Resultsmentioning

confidence: 99%

“…Among the 208 patients treated with anti-TNF alpha, just in 119, therapy outcomes have been described [ 1 , 4 , 5 , 8 , 9 , 11 , 12 , 16 , 17 , 19 – 21 , 23 , 24 , 28 – 32 , 34 – 40 , 43 , 45 , 46 , 50 , 53 , 54 , 56 , 60 – 63 , 65 – 67 , 69 , 71 , 73 – 82 , 85 , 87 , 89 – 91 ]. The median follow-up on anti-TNF alpha therapy was 10 months (interquartile range 6–25 months).…”

Section: Resultsmentioning

confidence: 99%

See 4 more Smart Citations

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Maccora

Maniscalco

Campani

et al. 2023

Orphanet J Rare Dis

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Introduction Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke. Methods A systematic review according to PRISMA approach, including all articles published before the 31st of August 2021 in Pubmed and EMBASE database was performed. Results The search identified 90 publications describing 378 unique patients (55.8% male). To date 95unique mutations have been reported. The mean age at disease onset was 92.15 months (range 0–720 months), 32 (8.5%) showed an onset of the first signs/symptoms after 18 years old and 96 (25.4%) after 10 years old. The most frequent clinical characteristics described were cutaneous (67.9%), haematological manifestations (56.3%), recurrent fever (51.3%), neurological as stroke and polyneuropathy (51%), immunological abnormalities (42.3%), arthralgia/arthritis (35.4%), splenomegaly (30.6%), abdominal involvement (29.8%), hepatomegaly (23.5%), recurrent infections (18.5%), myalgia (17.9%), kidney involvement (17.7%) etc. Patients with skin manifestations were older than the others (101.1 months SD ± 116.5, vs. 75.3 SD ± 88.2, p 0.041), while those with a haematological involvement (64.1 months SD ± 75.6 vs. 133.1 SD ± 133.1, p < 0.001) and immunological involvement (73.03 months SD ± 96.9 vs. 103.2 SD ± 112.9, p 0.05) are younger than the others. We observed different correlations among the different clinical manifestations. The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) has improved the current history of the disease. Conclusion Due to this highly variable phenotype and age of presentation, patients with DADA2 may present to several type of specialists. Given the important morbidity and mortality, early diagnosis and treatment are mandatory.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Maccora

Maniscalco

Campani

et al. 2023

Orphanet J Rare Dis

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Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

Pinto

Deo

Sharma³

et al. 2021

Clin Rheumatol

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Central retinal artery occlusion in a child with ADA2 deficiency: a case report

Sharabati,

Ayesh,

Qafesha

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and Importance: Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. During the past decade, DADA2’s clinical spectrum has expanded significantly as the number of reported cases has increased. Case Presentation: A five-year-old boy with DADA2 who experienced sudden onset left-sided vision loss due to unilateral central retinal artery occlusion. The patient had a history of recurrent fever and arthralgia with high inflammatory markers (CRP and ESR). Brain MRI showed mild limbic encephalitis, and MRA was normal. His gene sequencing results demonstrated substitutions mutation in ADA2, and the diagnosis of DADA2 was eventually confirmed. Clinical Discussion: Central retinal artery occlusion (CRAO) in pediatrics is a very rare condition. Typically, DADA2 presents in childhood as systemic inflammation, vasculitis, humoral immunodeficiency, and/or hematologic abnormalities. The most common phenotype described in the literature is vasculitis, which typically affects the skin and central nervous system, but other systems can also be affected. Ophthalmic manifestations are less common and highly variable. Conclusion: DADA2 manifests rarely with central retinal artery occlusion; therefore, physicians should be aware of this manifestation.

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Adenosine deaminase 2 deficiency with a novel variant of CECR1 gene mutation: Responding to tumor necrosis factor antagonist therapy

Cited by 3 publications

References 0 publications

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment

Central retinal artery occlusion in a child with ADA2 deficiency: a case report

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