scholarly journals Atypical Presentation of Adenosine Deaminase Deficiency ADA2 Deficiency

2021 ◽  
Author(s):  
Reem Ali AlShaikh ◽  
Dimah Saad Alnowaiser ◽  
Abdul Ali Peer Zada ◽  
Awatif AlMutairi ◽  
Hamzah AlGhamdi
Keyword(s):  
Adenosine Deaminase ◽  
Phenotypic Variability ◽  
Perianal Abscess ◽  
Fistula Formation ◽  
Early Age ◽  
Atypical Presentation ◽  
Adenosine Deaminase Deficiency ◽  
Aphthous Ulcers

Here we report on a challenging diagnosis of VIAHS in a patient who presented at a very early age with a perianal abscess with fistula formation, fever, aphthous ulcers, bicytopenia, and hematochezia. Marked phenotypic variability can occur, and screening for families should be initiated in those with ADA2 mutation.

Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency

1990 ◽  
Vol 188 (3) ◽  
pp. 243-252 ◽  
Author(s):  
John A. Duley ◽  
H.Anne Simmonds ◽  
David A. Hopkinson ◽  
Roland J. Levinsky
Keyword(s):  
Adenosine Deaminase ◽  
Adenosine Deaminase Deficiency

Late-onset adenosine deaminase deficiency presenting with Heck’s disease

2009 ◽  
Vol 169 (8) ◽  
pp. 1033-1036 ◽  
Author(s):  
Hasibe Artac ◽  
Bahar Göktürk ◽  
Sefika Elmas Bozdemir ◽  
Hatice Toy ◽  
Mirjam van der Burg ◽  
...  
Keyword(s):  
Adenosine Deaminase ◽  
Late Onset ◽  
Adenosine Deaminase Deficiency

Sensorineural deafness in siblings with adenosine deaminase deficiency

1996 ◽  
Vol 18 (4) ◽  
pp. 304-306 ◽  
Author(s):  
Chitose Tanaka ◽  
Toshiro Hara ◽  
Ichiro Suzaki ◽  
Yoshihiro Maegaki ◽  
Kenzo Takeshita
Keyword(s):  
Adenosine Deaminase ◽  
Sensorineural Deafness ◽  
Adenosine Deaminase Deficiency

Partial Adenosine Deaminase Deficiency in an Immunodeficient Child

1993 ◽  
Vol 7 (1) ◽  
pp. 51-55 ◽  
Author(s):  
LAWRENCE E. KURLANDSKY ◽  
PHYLLIS WEBB ◽  
ROCHELLE HIRSCHHORN
Keyword(s):  
Adenosine Deaminase ◽  
Adenosine Deaminase Deficiency
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