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Erschienen in:
31.05.2021 | Scientific Letter
Deficiency of Adenosine Deaminase 2 (DADA2): One Disease, Several Faces
Erschienen in: Indian Journal of Pediatrics | Ausgabe 8/2021
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To the Editor: Mutations in the adenosine deaminase 2 (ADA2) gene cause autosomal recessive monogenic vasculitis syndrome [1]. Besides our first report from India [2], there is scanty data on pediatric cases from Asia [3, 4]. We now have a series of 10 cases diagnosed over the last 2 y (Table 1).
Table 1
Salient features of the ten DADA2 patients
|
Patient No. (P)
|
1
|
2#
|
3
|
4*
|
5
|
6
|
7$
|
8
|
9
|
10
|
|---|---|---|---|---|---|---|---|---|---|---|
|
Age at onset/Gender
|
7 y 9 mo/M
|
4 mo/M
|
1 y 9 mo/M
|
16 y/F
|
9 y/M
|
17 y 4 mo/M
|
3 y 8 mo/M
|
2 y 6 moF
|
8 y 5 mo/M
|
2 y/F
|
|
Consanguinity
|
-†
|
+
|
-†
|
+
|
–
|
-†
|
-†
|
–
|
–
|
–
|
|
Initial diagnosis or differential diagnosis
|
TRAPS-like
|
PRCA
|
Primary CNS vasculitis
|
Lupus/Leukemia
|
PAN
|
PAN
|
IBD
|
UIA
|
Neuro-Bechet
|
Tuberculosis/Blau
|
|
Clinical spectrum
|
||||||||||
|
Mucocutaneous
|
||||||||||
|
Rash
|
+
|
–
|
+
|
+
|
+
|
–
|
+
|
+
|
+
|
–
|
|
Oral ulcers
|
–
|
–
|
–
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
|
Neurological
|
||||||||||
|
Ischemic strokes
|
–
|
+
|
+
|
–
|
–
|
–
|
–
|
–
|
+
|
–
|
|
Mononeuritis multiplex
|
–
|
–
|
–
|
–
|
+
|
+
|
–
|
–
|
–
|
–
|
|
Gastrointestinal
|
||||||||||
|
Abdominal pain
|
+
|
–
|
–
|
+
|
+
|
+
|
+
|
+
|
–
|
–
|
|
Diarrhea
|
–
|
–
|
–
|
+
|
+
|
–
|
+
|
–
|
–
|
–
|
|
Bleed
|
–
|
–
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
|
Intestinal perforation
|
–
|
–
|
–
|
–
|
+
|
+
|
–
|
–
|
–
|
–
|
|
Renal
|
||||||||||
|
Renal artery stenosis
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
|
Renal artery aneurysm
|
–
|
–
|
–
|
–
|
–
|
+^
|
–
|
–
|
+
|
–
|
|
Renal infarcts
|
–
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
–
|
|
Hypertension
|
+
|
–
|
–
|
–
|
+
|
+
|
–
|
–
|
–
|
–
|
|
Musculoskeletal
|
||||||||||
|
Arthralgia
|
+
|
–
|
+
|
–
|
–
|
–
|
+
|
+
|
–
|
+
|
|
Arthritis
|
–
|
–
|
+
|
–
|
–
|
–
|
+
|
+€
|
–
|
–
|
|
Myalgia
|
+
|
–
|
–
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
|
Fever
|
+
|
+
|
+
|
+
|
–
|
+
|
+
|
+
|
–
|
+
|
|
Serositis
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
|
Hematological
|
||||||||||
|
Anemia
|
–
|
+@
|
–
|
–
|
–
|
–
|
–
|
+
|
+
|
–
|
|
Leucopenia
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
|
Thrombocytopenia
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
|
Lymphoproliferation
|
||||||||||
|
Hepatomegaly
|
+
|
–
|
–
|
+
|
+
|
–
|
–
|
+
|
–
|
+
|
|
Splenomegaly
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
+
|
–
|
+
|
|
Lymphadenopathy
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
+‡
|
|
Ocular
|
||||||||||
|
Episcleritis
|
+
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
–
|
|
CRAO
|
–
|
–
|
–
|
–
|
+
|
–
|
–
|
–
|
–
|
–
|
|
Genotype
|
Comp. hetero.
p.G47R & splice mutation c.753 + 2T> A
|
Homo.
p.G358R
|
Homo.
p.G47R
|
Homo.
p.G358R
|
Homo.
p. G47R
|
Homo.
p. G47R
|
Homo.
p. G47R
|
Homo.
p.R169Q
|
Homo.
p.G47R
|
Comp. hetero. p.G47R & p.H219P
|
|
ADA2 enzyme assay
|
ND
|
ND
|
ND
|
Low
|
Low
|
ND
|
ND
|
ND
|
Low
|
Low
|
|
Treatment
|
||||||||||
|
Etanercept – O/B
|
O
|
B
|
O
|
B
|
O
|
B
|
O
|
B
|
B
|
B
|
|
Duration on etanercept
|
116 mo
|
24 mo
|
20 mo
|
17 mo
|
18 mo
|
10 mo
|
29 mo
|
68 mo
|
1 mo
|
2 wk
|