A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q

Table 1 Demographic data and initial features of patients with deletions on chromosome 6q in the TNFAIP3 gene

	Current report	Endo et al.		Franco-Jarava et al.	Sun et al	Taniguchi et al.	Tsuchida et al.		Viel et al.	Wan et al.	Wu et al.
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Patient 11	Patient 12
Ethnicity	Chinese	Japanese	Japanese	Spanish	Chinese	Japanese	Japanese	Japanese	French	unknown	Caucasian	African American
Gender	Female	Female	Male	Male	Female	Female	Female	Female	Male	Female	Female	Male
Inheritance	de novo	paternal	unknown	de novo	de novo	de novo	maternal	unknown	unknown	unknown	de novo	unknown
Size of deletion	5.15 Mb	3.3 Mb	3.3 Mb	13.13 Mb	3.576 Mb	0.119 Mb	0.236 Mb	0.236 Mb	5.5 Mb	0.0599 Mb	3.4 Mb	11.7 Mb
Age of onset	23 days	6 months	1 year	7 months	2 months	3 weeks	2 months	1 year	5 years	35 years	6 months	3 years
Age at diagnosis	2 months	Not mentioned	Not mentioned	12 years	45 months	8 months	11 years	16 years	19 years	56 years	6 years	7 years
Initial symptoms	Fever	Fever AIHA	AIHA	Fever Respiratory- infections Gastroenteritis	Fever	Fever	Fever	Oral ulcers	Henoch-Schönlein purpura	Allergy Rosacea	Fever Infections Oral ulcers	Oral ulcers
Fever	+	+	-	+	+	+	+	-	-	-	+	-
Lymphadenopathy	-	+	+	+	+	-	+	+	-	+	+	-
Hepatomegaly	+	+	+	+	+	+	-	-	-	-	+	-
Splenomegaly	+	+	+	+	+	+	-	-	-	+	+	-
Anemia	+	AIHA	AIHA	-	HLH	-	-	-	AIHA	-	-	AIHA
Hepatic dysfunction	+	-	-	-	-	-	-	-	-	-	-	-
Failure to thrive	+	Not mentioned	Not mentioned	+	+	+	+	Not mentioned	+	Not mentioned	+	+
Oral ulcer	-	-	-	+	-	+	+	+	-	-	+	+
Arthralgia	-	-	-	-	-	+	+	-	+	-	-	-

ISSN: 1546-0096