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

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. A systematic review according to PRISMA appro...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 18; no. 1; pp. 117 - 14
Main Authors:	Maccora, Ilaria, Maniscalco, Valerio, Campani, Silvia, Carrera, Simona, Abbati, Giulia, Marrani, Edoardo, Mastrolia, Maria Vincenza, Simonini, Gabriele
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 13-05-2023 BioMed Central BMC
Subjects:	Abdomen Adenosine Adenosine deaminase Adenosine Deaminase - genetics Age Analysis Arthralgia Autoinflammatory disease Bone marrow Care and treatment Case reports DADA2 Deficiency of adenosine deaminase 2 Diagnosis Dosage and administration Failure to thrive Female Fever Genotype & phenotype Hematology Hematopoietic stem cells Humans Humoral immunodeficiency Immune system Immunodeficiency Immunology Infections Inflammatory diseases Intercellular Signaling Peptides and Proteins - genetics Literature reviews Male Medical research Morbidity Mutation Myalgia Pathogenesis Patients Phenotype Phenotypes Polyneuropathy Prevention Rare diseases Review Risk factors Splenomegaly Statistical analysis Stroke Stroke (Disease) Systematic review Transplantation Tumor necrosis factor inhibitors Tumor necrosis factor-TNF Variables Vasculitis Italy Stroke Vasculitis Autoinflammatory disease DADA2 Systematic review Humoral immunodeficiency Panarteritis nodosa Deficiency of adenosine deaminase 2
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Summary:	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. A systematic review according to PRISMA approach, including all articles published before the 31st of August 2021 in Pubmed and EMBASE database was performed. 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. 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.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Undefined-1 ObjectType-Feature-3 ObjectType-Review-4 content type line 23
ISSN:	1750-1172 1750-1172
DOI:	10.1186/s13023-023-02721-6