Warts and DADA2: a Mere Coincidence?

Arts, Katrijn; Bergerson, Jenna; Ombrello, Amanda K.; Similuk, Morgan; Oler, Andrew J.; Agharahimi, Anahita; Mace, Emily M.; Hershfield, M S; Wouters, Carine; Somer, Lien De; Morren, Marie‐Anne; Diego, Rebeca Perez-de; Moens, Leen; Freeman, Alexandra F.; Meyts, Isabelle

doi:10.1007/s10875-018-0565-0

Cited by 25 publications

(21 citation statements)

References 40 publications

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“…[8][9][10][11] Some patients present with humoral immunodeficiency and recurrent infection, further complicating our understanding of DADA2. 12,13 How mutations in the same gene can present with different phenotypes is poorly understood.…”

mentioning

confidence: 99%

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Lee

Kellner

Huang

et al. 2020

Journal of Allergy and Clinical Immunology

109

138

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mentioning

confidence: 99%

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Lee

Kellner

Huang

et al. 2020

Journal of Allergy and Clinical Immunology

109

138

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“…Cutaneous manifestations are common, ranging from livedo reticularis/racemosa, nodular lesions, soft tissue/ subcutaneous edema, ulcers, and erythema-multiforme-like lesions [31•, 54, 55]. The prevalence of livedo racemosa has been reported to be as high as 73% of patients [ 30,61]. The concurrence of DADA2 and lymphoproliferative diseases has been reported in several cases.…”

Section: Clinical Manifestations Of Dada2mentioning

confidence: 99%

“…In a separate cohort of five patients, two with PRCA had bone marrow studies consistent with PRCA, while one with hemolytic anemia had a hypercellular marrow, and the fourth who presented with recurrent fevers and pancytopenia had a normocellular marrow [ 37 •]. Cytopenia-predominant disease has been closely linked to immune deficiency, with findings of memory B cell deficiency and decreased B cell differentiation in these patients [ 2 ••, 29 ••, 30 , 61 ]. The concurrence of DADA2 and lymphoproliferative diseases has been reported in several cases.…”

Section: Clinical Manifestations Of Dada2mentioning

confidence: 99%

“…Varying degrees of antibody deficiencies can be seen including pure antibody deficiency or pan-hypogammaglobulinemia as in CVID [ 17 •, 29 ••, 32 •, 49 , 63 , 64 ••, 65 , 66 ]. Verrucosis, herpes virus infections, and an increased susceptibility to infection with dsDNA viruses have been reported [ 26 •, 49 , 61 , 67 , 68 ]. In a study screening 181 adolescent and adult patients with antibody deficiency or CVID, 11 patients were identified with mutations in the ADA2 gene.…”

Section: Clinical Manifestations Of Dada2mentioning

confidence: 99%

“…ADA2 was purified in 2005 and determined to be encoded by the ADA2 gene (formally CECR1), located on chromosome 22q11.1 [ 6 ••, 23 ]. A variety of types of mutations have since been reported including missense, nonsense, splice site mutations, frameshift mutations, deletions, and copy number variations [ 16 , 61 , 70 ]. Between 2014 and 2020, at least an additional 67 known pathogenic mutations were documented, with a total of 98 known variants, many not classified, of uncertain significance, or potentially benign [ 72 ••].…”

Section: Genetic Mutations Within the Ada2 Genementioning

confidence: 99%

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The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency

Kendall

Springer

2020

Curr Rheumatol Rep

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Purpose of Review We aim to describe the pathophysiology, clinical findings, diagnosis, and treatment of deficiency of adenosine deaminase 2 (DADA2). Recent Findings DADA2 is a multi-organ disease of children and less often adults, which can present with wide-ranging manifestations including strokes, medium vessel vasculitis, hematologic disease, and immunodeficiency. Diagnosis is through detection of reduced activity level of the adenosine deaminase 2 (ADA2) enzyme and/or identification of bi-allelic mutations in the ADA2 gene. Outside of high-dose glucocorticoids, conventional immunosuppression has been largely ineffective in treating this relapsing and remitting disease. Vasculitic-predominant manifestations respond extremely well to tumor necrosis factor-α inhibition. Hematopoietic stem cell transplantation can lead to normalization of enzyme activity, as well as resolution of vasculitic, hematologic, and immunologic manifestations, although treatment-related adverse effects are not uncommon. Summary Early detection of this disease across multiple disciplines could prevent devastating clinical outcomes, especially in genetically pre-disposed populations.

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Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict

Similuk

Yan

Setzer

et al. 2020

Journal of Genetic Counseling

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The return of individual genetic results from clinical research varies considerably by study (Wynn et al., 2015). This variability is partly dependent on study context, such as the relationship between investigator and participant, available resources, institutional norms, and investigator preference (Jarvik et al., 2014). For example, a genomic research study where physicians provide individual medical recommendations or administer treatment to participants has different ethical obligations than a research study doing genomic analysis on samples from de-identified biobank participants. One area without consensus is the return of secondary findings (SF) in a research setting (Wolf et al., 2015). Return of a selected consensus set of SF is recommended in the clinical setting by the American College of Medical Genetics and Genomics (ACMG) (Green et al., 2013;Kalia et al., 2017).One way to inform policy on the return of SF in the research setting is to conduct research on patient knowledge and preferences.In one study conducted at the National Institutes of Health (NIH) Clinical Center (CC), where the current study was also conducted,

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Warts and DADA2: a Mere Coincidence?

Cited by 25 publications

References 40 publications

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency

Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict

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