Table 1. Clinical features of CARMIL2-deficient patients.

	P1.1	P1.2	P2.1	P2.2
Origin	Yemen	Yemen	Brazil	Brazil
Consanguinity	Yes	Yes	Yes	Yes
CARMIL2 mutation	c.489insG	c.489insG	c.871+1G>T	c.871+1G>T
CARMIL2 protein expression	No	No	No	No
Failure to thrive	Yes*	Yes†	Yes‡	Yes§
EBV+ SMT	Gut	Gut, liver, spleen, kidney, brain	Gut, liver, lung	Gut, liver
Age at diagnosis of EBV+ SMT	7 years	4 years	9 years	6 years
Infections	Recurrent upper airway infections	Recurrent upper airway infections	Recurrent Giardia spp., recurrent (retention)-pneumonia	Recurrent chickenpox, pneumonia
Chronic diarrhoea	No	Yes	Yes	No
Skin symptoms	Eczematous dermatitis, skin warts	Recurrent abscesses with S. aureus	Skin warts	Eczematous dermatitis
Current state	Progressive disease	Deceased	Deceased	Deceased

^*Age 7y8m: weight 17.7 kg, Z score −2.2; height 115 cm, Z score −1.8; head circumference 51 cm, Z score −0.5.

^†Age 5y2m: weight 7.4 kg, Z score −5.5; height 85 cm, Z score −4.4; head circumference 45 cm, Z score −3.8.

^‡Age 8y0m: weight 14 kg, Z score −6.2; height 105 cm, Z score −4.4; head circumference not determined.

^§Age 12y2m: weight 14.5 kg, Z score −7.23; height 116 cm, Z score −4.59; head circumference 50 cm, Z score −3.26.