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Last update 08 May 2025

ADA2

Last update 08 May 2025

Basic Info

Synonyms

ADA2, adenosine deaminase 2, ADGF

+ [3]

Introduction

Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity.

Drugs associated with ADA2

NT-222

Target

ADA2

Mechanism

ADA2 modulators

Active Org.

NexThera Co., Ltd.

Originator Org.

NexThera Co., Ltd.

Active Indication

Solid tumor

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Deficiency of Adenosine Deaminase Type 2 (UCL)

Target

ADA2

Mechanism

ADA2 agonists

Active Org.

University College London

Originator Org.

University College London

Active Indication

Adenosine deaminase deficiency

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ADA2

100 Translational Medicine associated with ADA2

0 Patents (Medical) associated with ADA2

630

Literatures (Medical) associated with ADA2

01 Dec 2025·Journal of Clinical Immunology

Deficiency of Adenosine Deaminase 2 Masquerading as Behçet’s Disease: Phenotypic Mimicry with HLA-B*51 Positivity

Article

Author: Alrasheed, Abdulrahman ; Alqanatish, Jubran ; Alharbi, Bushra ; Almojali, Abdullah ; Alroqi, Fayhan ; Alharbi, Reem ; Alsuwairi, Wafaa

PURPOSEDeficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease resulting from biallelic loss-of-function mutations in ADA2 gene. It has variable clinical manifestations, some of which can mimic Behçet's disease (BD). Herein, we present a family of three siblings diagnosed with DADA2, two of whom were initially misdiagnosed as BD based on clinical phenotype including positive human leukocyte antigen B51 (HLA-B*51).METHODSGene mutational analysis was performed by whole exome (WES) and Sanger sequencing.RESULTSWe reported two siblings presented with recurrent oral ulcers, fever, arthritis, and skin lesions, alongside elevated inflammatory markers and HLA-B*51 positivity, leading to an initial misdiagnosis of BD. Genetic testing later revealed a homozygous ADA2 variant (c.139G > A p.Gly47Arg) in both siblings and their asymptomatic younger sister, confirming DADA2 diagnosis. Thereafter, we reviewed the literature to identify other patients misdiagnosed with BD but later found to have DADA2. This resulted in a cohort of 10 DADA2 patients, including our two reported siblings. The median time from symptoms onset to the final diagnosis of DADA2 was 7 years. All patients exhibited BD-like phenotype, except for uveitis, and 8 were HLA-B*51 positive, which likely contributed to the diagnostic confusion.CONCLUSIONThese findings highlight the broad clinical spectrum of DADA2, which can resemble BD, and suggest that HLA-B*51 positivity in DADA2 may further complicate diagnosis. Clinicians should maintain a high index of suspicion for DADA2 in early-onset BD-like cases, particularly without uveitis, or a family history of similar symptoms. Further studies are warranted to explore HLA-B*51 role in DADA2 phenotype.

01 Dec 2025·Journal of Clinical Immunology

A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia

Article

Author: Ergenoğlu, Damla Nur ; Cagdas, Deniz ; Maslak, Ibrahim Cemal ; Çiçek, Begüm ; Bildik, Hacer Neslihan ; Esenboga, Saliha ; Sinanoğlu, Nidanur ; Tezcan, Ilhan ; Caka, Canan

Chronic neutropenia causes involve nutritional deficiencies and inborn errors of immunity(IEI), such as severe congenital neutropenia. To classify common chronic neutropenia causes in a pediatric immunology unit. We enrolled 109 chronic neutropenia patients admitted to a pediatric immunology department between 2002-2022. We recorded clinical/laboratory features and genetic characteristics. The male/female ratio was 63/46. Fifty-eight patients had parental consanguinity(57.4%). 26.6% (n = 29) patients had at least one individual in their family with neutropenia. Common symtpoms at presentation were upper respiratory tract infections(URTI)(31.1%), oral aphthae(23.6%), skin infections(23.6%), pneumonia(20.8%), and recurrent abscesses(12.3%). Common infections during follow-up were URTI(56.8%), pneumonia(33%), skin infections(25.6%), gastroenteritis(18.3%), and recurrent abscesses(14,6%). Common long-term complications were dental problems(n = 51), osteoporosis(n = 22), growth retardation(n = 14), malignancy(n = 16)[myelodysplastic syndrome(n = 10), large granulocytic leukemia(n = 1), acute lymphoblastic leukemia(n = 1), Hodgkin lymphoma(n = 1), EBV-related lymphoma(n = 1), leiomyosarcoma(n = 1), and thyroid neoplasm(n = 1)]. We performed a genetic study in 86 patients, and 69(71%) got a genetic diagnosis. Common gene defects were HAX-1(n = 26), ELA-2 (ELANE)(n = 10), AP3B1(n = 4), and ADA-2(n = 4) gene defects. The IEI ratio(70.6%) was high. GCSF treatment(93.4%), immunoglobulin replacement therapy(18.7%), and HSCT(15.9%) were the treatment options. The mortality rate was 12.9%(n = 14). The most common long term complications were dental problems that is three times more common in patients with known genetic mutations. We prepared an algorithm for chronic neutropenia depending on the present cohort. An important rate of inborn errors of immunity, especially combined immunodeficiency(11.9%) was presented in addition to congenital phagocytic cell defects. Early diagnosis will allow us tailor the disease-specific treatment options sooner, preventing irreversible consequences.

01 Jun 2025·Pediatric Blood & Cancer

A Novel Mutation in the Adenosine Deaminase‐2 Gene Presenting as Severe Chronic Neutropenia With Myeloid Hypoplasia

Letter

Author: Naithani, Rahul ; Rath, Prasan Deep ; Dayal, Nitin ; Jeyaraman, Preethi ; Borah, Pronamee

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