Evaluation and Management of Deficiency of Adenosine Deaminase 2

Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I.; Bell, Katherine; Belot, Alexandre; Bergerson, Jenna R. E.; Bernard, Timothy J.; Brogan, Paul A.; Berkun, Yackov; Deuitch, Natalie T.; Dimitrova, Dimana; Georgin-Lavialle, Sophie A.; Gattorno, Marco; Grimbacher, Bodo; Hashem, Hasan; Hershfield, Michael S.; Ichord, Rebecca N.; Izawa, Kazushi; Kanakry, Jennifer A.; Khubchandani, Raju P.; Klouwer, Femke C.C.; Luton, Evan A.; Man, Ada W.; Meyts, Isabelle; Van Montfrans, Joris M.; Ozen, Seza; Saarela, Janna; Santo, Gustavo C.; Sharma, Aman; Soldatos, Ariane; Sparks, Rachel; Torgerson, Troy R.; Uriarte, Ignacio Leandro; Youngstein, Taryn A. B.; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L.; Chambers, Eugene P.; Ombrello, Amanda K.; ,; Makley, Mary K.; Hayner, Kristen L.; Kling, Bridget E.; Cowsert, Lex M.; Williams, Julie S.

doi:10.1001/jamanetworkopen.2023.15894

Cited by 11 publications

(5 citation statements)

References 43 publications

(109 reference statements)

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“…The recently published consensus statement on ADA2 deficiency states that hematopoietic stem cell transplantation is an effective option for pure red cell aplasia, bone marrow failure, refractory immune cytopenias, severe immunodeficiency and vascular involvement refractory to immunomodulators. Hematopoietic stem cell transplantation should therefore be considered in patients with ADA2 deficiency and recurrent TIA/ischaemic stroke after initiation of TNFα inhibiting therapy [20].…”

Section: Discussionmentioning

confidence: 99%

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

Verschoof

Meenen

Andriessen

et al. 2023

Euro J of Neurology

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BackgroundPatients with adenosine deaminase 2 (ADA2) deficiency can present with various neurological manifestations due to vasculopathies and autoinflammation. These include ischemic and hemorrhagic stroke, but less clearly defined neurological symptoms have also been reported.MethodsIn this cohort study, we included patients with confirmed ADA2 deficiency from seven university hospitals in the Netherlands. We analyzed the frequency and recurrence rates of neurological manifestations before and after initiation of TNF‐α inhibiting therapy.ResultsWe included 29 patients with a median age at presentation of 5 years (IQR: 1‐17). Neurological manifestations occurred in 19/29 (66%) patients and were the presenting symptom in 9/29 (31%) patients. TIA/ischemic stroke occurred in 12/29 (41%) patients and was the presenting symptom in 8/29 (28%) patients. In total, 25 TIAs/ischemic strokes occurred in 12 patients; one after initiation of TNF‐α inhibiting therapy and one while switching between TNF‐α inhibitors. None were large‐vessel occlusion strokes. Two hemorrhagic strokes occurred: one aneurysmatic subarachnoid hemorrhage and one spontaneous intracerebral hemorrhage. Most neurological symptoms, including cranial nerve deficits, vertigo, ataxia and seizures, were caused by TIAs/ischemic strokes and seldom recurred after initiation of TNF‐α inhibiting therapy.ConclusionsNeurological manifestations, especially TIA/ischemic stroke, are common in patients with ADA2 deficiency and frequently are the presenting symptom. Because it is a treatable cause of young stroke, for which antiplatelet and anticoagulant therapy are considered contraindicated, awareness among neurologists and pediatricians is important. Screening for ADA2 deficiency in young patients with small‐vessel ischemic stroke without an identified cause should be considered.

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Section: Discussionmentioning

confidence: 99%

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

Verschoof

Meenen

Andriessen

et al. 2023

Euro J of Neurology

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“…Recently, multidisciplinary consensus statements for the evaluation and management of DADA2 patients have been developed ( 55 ).…”

Section: Deficiency Of Adenosine Deaminasementioning

confidence: 99%

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Federici,

Cinicola,

La Torre

et al. 2024

Front. Pediatr.

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Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are characterized by unprovoked recurrent flares of systemic inflammation often characterized by fever associated with clinical manifestations mainly involving the musculoskeletal, mucocutaneous, gastrointestinal, and nervous systems. Several conditions also present with varied, sometimes prominent, involvement of the vascular system, with features of vasculitis characterized by variable target vessel involvement and organ damage. Here, we report a systematic review of vasculitis and vasculopathy associated with inborn errors of immunity.

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“…Treatment is, therefore, challenging. Given the crucial role of neurological signs in decision-making regarding immunosuppression [ 4 , 82 , 83 , 84 ], general neurologists must be aware of these disorders. Recurrent flares and subclinical manifestations are common in SAIDs, particularly in CAPS.…”

Section: General Approach To Saidsmentioning

confidence: 99%

“…Assessment by a multidisciplinary team, including neurologists, rheumatologists, immunologists, physiotherapists, and psychologists, is recommended. Treat-to-target (T2T) should be aimed at complete remission or minimal disease activity [ 83 , 84 ].…”

Section: General Approach To Saidsmentioning

confidence: 99%

What General Neurologists Should Know about Autoinflammatory Syndromes?

de Moraes,

do Nascimento,

Abrantes

et al. 2023

Brain Sciences

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Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.

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Evaluation and Management of Deficiency of Adenosine Deaminase 2

Cited by 11 publications

References 43 publications

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

What General Neurologists Should Know about Autoinflammatory Syndromes?

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