Table I.

Patient Characteristics prior to HSCT

Patient	Gender	Mutationa	DOCK8 protein expressionb	Clinical manifestations of DOCK8								IVIG Pre-HSCT
				Eczema	Food allergies	Infections				Fungal	Other
						Bacterial		Viral
						Recurrent sinopulmonary infections	Skin abscesses	Cutaneous	Systemic
1	M	+1 IVS44 G>A	Reduced	+	+	+	−	−	EBV	−		−
2	F	Del ex 29–36	−	+	+	+	−	HSV HPV	−	−	Asthma	+
3	F	Del ex 1–2	−	+	−	+	+	MC	EBV	+	Asthma, poor dentition	−
4	F	Del ex 1–23	−	+	+	+	+	HSV HPV	CMV		Asthma, liver failure, cryptosporidium induced sclerosing cholangitis	+
5c	F	Del ex 1–5	−	+	+	+	+	HSV	−	−	Poor dentition	+
6c	F	Del ex 1–5	−	+	+	+	+	HSV	CMV	+	Asthma, poor dentition, severe bronchiectasis s/p lobar resections	+
7	M	Del ex 10–12	−	+	+	−	−	HSV	VZV EBV CMV	−	EBV-driven leiomyosarcoma, MRSA pericarditis, chronic cryptosporidium and Giardia	−
8c	M	Del ex 1–5	−	+	+	−	+	MC	−	−		+
9c	F	Del ex 1–5	−	+	+	+	+	HSV	−	+	Asthma, poor dentition	+
10c	M	Del ex 1–5	−	+	+	−	−	MC	−	−		+
11c	F	Del ex 1–5	−	+	+	+	−	HSV MC	−	−	Poor dentition	+

^aAll mutations are homozygous.

^bDOCK8 protein expression by either Western blot or flow cytometry

^cRelated patients (Patients 9 and 11 are sisters, patients 5, 6, 8, 9, 10 and 11 are cousins)

CMV: cytomegalovirus, Del: deletion, EBV: Epstein-Barr virus, F: female, HSCT: hematopoietic stem cell transplantation, HSV: herpes simplex virus, IVIG: intravenous immunoglobulins, M: male, MC: molluscum contagiosum, MRSA: methicillin-resistant Staphylococcus aureus, VZV: varicella zoster virus.