Table 2.

Comparison of clinical and laboratory findings in two studies of Nijmegen Breakage Syndrome patients: current (Deripapa et al.) and Wolska-Kuśnierz et al. (6).

Categories	Current study by Deripapa et al.	Wolska-Kuśnier et al. (6)
Number of patients	35	149
M/F ratio, %	46/54	51/49
Median age, years	13.4	14.3
Infections
Mild	49	34
Severe	51	66
Opportunistic infections, %	0	5
Immunoglobulin substitution, %	100	68
Correlation of T cell defect with severity of infections	No correlation of infections and T-cell excision circles	No correlation of infections and CD3+ lymphocyte numbers
Laboratory predictors of severe infections	Low kappa-deleting recombination excision circles (KRECs)	Low Igg
Autoimmune complications, %	34	10
Interstitial lymphocytic lung disease, %	11	No/not reported
Malignancies, %	57	42
Median age of first malignancy	6.0	10.3
Solid tumors, % of all malignancies	4	11
Died from malignancy, %	25	44
Reduced chemotherapy protocols, %	35	“Mostly reduced”
Underwent hematopoietic stem cell transplantation (HSCT), %	43	10
HSCT age		8.8
Alive after HSCT, %	80	71
Relapse of malignancy after HSCT, %	7	0
Deceased patients, %	26	39
Median age of death, years	9.5	11.1
Cause of death
Malignancy and complications, %	75	59
Infections, %	12.5	14
Infections during HSCT, %	12.5	5
Other, %		22
Poor prognosis predictors, clinical	No HSCT	Severe infections malignancy
Poor prognosis predictors, laboratory	Low KRECs	Not found