Novel mutatıons and diverse clinical phenotypes in recombınase-activating gene 1 deficiency

Table 2 Immunological and genetic findings of patients with RAG1 defects

	T-B-NK+ (n = 5)					T + B-NK+ (n = 4)				T + B + NK+ (n = 2)
						Other phenotype n(2)		Omenn n(2)
	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9	Patient 10	Patient 11
IgG (mg/dl)	371	546	546	517	312	1372	1840	1080	662	159	1590
IgA (mg/dl)	< 6	< 6	< 6	< 6	< 6	22	219	49	< 6	8	52
IgM (mg/dl)	< 17	< 17	< 17	< 17	< 17	222	120	179	< 17	52	75
WBC	7800	8220	532	8280	6780	5900	8740	24700	19200	15500	11000
Abs.lymp h./mm ³	1028	657	180	3120	650	3835	1748	9386	6144	7630	5500
CD3+ %	10	0	0	0	0	56	78	92	78	59	51
CD3 + CD 4+ %	0	0	0	0	0	11	17	19	33	37	9
CD3 + CD 8+ %	10	0	0	0	0	50	55	60	47	19	39
CD19+ %	0	0	0	0	0	0	1	0	0	30	36
NK + % CD16 + 56+)	75	43	90	78	63	43	12	2	11	7	16
HLA DR + T cell %	10	58	0	0	0	45	67	85	73	12	37
Molecular analyses	p.R394Q/p.R394Q homozy. mutation	p.R394Q/p.R394Q homozy. mutation	p.R776Q, 3047-3049 del GCC	p.H249R (homozy) mutation? Polymorphism?	p.R394Q/p.R394Q homozy. mutation	p.H249R/p.K820R (compound heterozy.) mutation? Polymorphism?	p.H249R/p.K820R (compound heterozy) mutation? Polymorphism?	p.H249R (heterozy) mutation? Disease causing? Polymorphism?	p.Q248X/p.Q248X homozy. mutation	p.H249R (heterozy) mutation? Disease causing? Polymorphism?	P85fs32 × = del A256/A257

The most common symptoms were pneumonia (n = 10), chronic diarrhea (n = 6), infections plus dermatitis (n = 3), infections plus moniliasis (n = 3) or all of these (n = 3). The respiratory tract diseases were the most frequent infection type. Lymphadenopathy and hepatosplenomegaly were observed in 36% and 90% of RAGD patients, respectively. Auotoimmunity was recorded in three patients. CMV infection was detected in two patients with T + B + NK + phenotype.

ISSN: 1824-7288