Clinical features and treatment of the patients
	Case I	Case II	Case III	Case IV
Gender Age at diagnosis	M / 4 yrs	M / 13mo (brother of 1st case)	F / 13mo	F / 11mo
Parental Consanguinity	+	+	-	+
Infections	Diarrhea Pneumonia Sepsis	-	Disseminated varicella	RTI Diarrhea
Autoimmunity	No	No	No	No
Neuro-developmental symptoms	Truncal hypotonia Developmental delay	Spasticity Developmental delay	Hypotonia Spasticity	Hypotonia Spasticity
Uric acid(UA) levels (mg/dl)	0,1	0,1	0,2	0,5
Genetic defect	c286-18G>A	c286-18G>A	c286-18G>A	c.172C>T
Treatment	IVIG	HSCT	HSCT	HSCT
Outcome	Died with sepsis and MOF	A/W Some neurological problems At posttransplant 10 yrs	A/W At posttransplant 3,5 yrs	A/W At posttransplant 8 mo