Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopathy (targeting skin, gut and central nervous system), recurrent fever, immunodeficiency and bone marrow dysfunction. Different therapeutic options have been proposed in literature, but only steroids and anti-cytokine monoclonal antibodies (such as tumor necrosis factor inhibitor) proved to be effective. If a suitable donor is available, hematopoietic stem cell transplantation (HSCT) could be curative. Here we describe a case of ADA2 deficiency in a 4-year-old Caucasian girl. The patient was init...
IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (S...
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of ca...
International audienceThe objective of this paper is to describe the phenotype compound heterozygote...
Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye ...
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a high...
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1. D...
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1. D...
We describe a previously healthy 14-year-old girl with acute onset autoimmune hemolytic anemia, asso...
Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease caused by bi-alle...
Funding Information: Funded by the Latvian Council of Science project grant Nr. lzp-2020/1–0269 and ...
To the Editor: Zhou et al.(1) and Navon Elkan et al.(2) (both in the March 6 issue) speculate that h...
Objective. To determine the genotype-phenotype association in patients with adenosine deaminase-2 (A...
Mutations in the Adenosine Deaminase (ADA) gene are responsible for a form of Severe Combined Immuno...
Adenosine deaminase 2 deficiency (DADA2) is a rare inherited disorder that is caused by autosomal re...
Unconditioned hematopoietic stem cell transplantation (HSCT) is the recommended treatment for patien...
IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (S...
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of ca...
International audienceThe objective of this paper is to describe the phenotype compound heterozygote...
Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye ...
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a high...
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1. D...
Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1. D...
We describe a previously healthy 14-year-old girl with acute onset autoimmune hemolytic anemia, asso...
Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive disease caused by bi-alle...
Funding Information: Funded by the Latvian Council of Science project grant Nr. lzp-2020/1–0269 and ...
To the Editor: Zhou et al.(1) and Navon Elkan et al.(2) (both in the March 6 issue) speculate that h...
Objective. To determine the genotype-phenotype association in patients with adenosine deaminase-2 (A...
Mutations in the Adenosine Deaminase (ADA) gene are responsible for a form of Severe Combined Immuno...
Adenosine deaminase 2 deficiency (DADA2) is a rare inherited disorder that is caused by autosomal re...
Unconditioned hematopoietic stem cell transplantation (HSCT) is the recommended treatment for patien...
IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (S...
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of ca...
International audienceThe objective of this paper is to describe the phenotype compound heterozygote...