Table 1.

SAMD9L-SAAD clinical features

Patient	P1	P2	DJ1 (17)	DJ2	DJ3	DJ4	DJ5	DJ6
SAMD9L variant	c.2654delA; p.N885Tfs*6	c.2633delA; p.K878fs*13	c.2626delA; p.I876Lfs*15	c.2633delA; p.K878fs*13	c.2658_2659delTT; p.F886Lfs*11	c.2658_2659delTT/ F886Lfs*11	c.2658_2659delTT/ F886Lfs*11	c.2666delT; p.F889Sfs*2
Ethnicity	Chinese	Korea	NS	NS	NS	NS	NS	NS
Cons	No	No	NS	NS	NS	NS	NS	NS
Sex	M	F	M	NS	NS	NS	NS	NS
Age at presentation	<1wk	<1 wk	NS	NS	NS	NS	NS	NS
Rash macroscopic	+++ scarring	+++ scarring	Panniculitis/lipoatrophy	Panniculitis	Panniculitis	Panniculitis	Panniculitis	Panniculitis
Biopsy of rash	Neutrophil dermatosis	Leukocytoclast vasculitis	Neutrophilic panniculitis	Neutrophilic panniculitis	Neutrophilic panniculitis	Neutrophilic panniculitis	Neutrophilic panniculitis	Neutrophilic panniculitis
Lip erosion	+	+	NS	NS	NS	NS	NS	NS
ILD	No	No	No	No	Yes	Yes	Yes	Yes
HSM	+	+	+	+	+	+ (with portal hypertension)	NS	Splenomegaly
MRI brain change	Basal ganglia calcification	Basal ganglia calcification	Subcortical white matter change	NS	Basal ganglia calcifications – bilateral white matter disease	Perinatal bleed/basal ganglia calcifications	NS	CT NAD
Epiglottitis	+	+	NS	NS	NS	NS	NS	NS
Hemoglobin	↓	↓	↓	↓	↓	↓	↓	NS
Platelets	↓	↓	↑ then ↓	↓	↓	↓	↓	↓
Neutrophils	Normal	↑	NS	NS	NS	NS	NS	NS
Inflammation markers	↑	↑	NS	NS	NS	NS	NS	NS
Ferritin (maximum)	4,305 µg/L	10,619 ng/mL	NS	NS	NS	NS	NS	NS
% B cells	<1%	Absent	↑ then ↓	↓	↓	↓	↓	↓
Bone marrow B cells	Low	Low	Low	Markedly low	NS	↓ (<5%)	NS	NS
NK cells	↓	↓	NS	NS	NS	↓	↓	↓
IgG	↓	↓* 663 mg/dL	N	↑	N	NR	NR	↓
IgA	↓	↓	↑	↑	N	NR	NR	NR
IgM	↓	↓	N	N	↓	NR	NR	NR
T cell no. and function	N	Abnormal PHA	NS	NS	NS	NS	Normal numbers decreased prolif	Normal numbers
Viral infections	CMV viraemia		Coronavirus HKU1, RSV, parainflu, adenovirus, rhinovirus	Rhinovirus, RSV	RSV, parainfluenza	NS	NS	NS
Treatment	Prednisolone MMF (? PR)	BMT	Prednisolone (PR) Tocilizumab (PR) Baracitinib (PR)	Etanercept (PR) IVIG (PR)	Cyclosporin (MR) Etanercept (MR) Adalimumab (MR) Anakinra (MR) BMT (Successful)	Anakinra (MR) IVIG	IVIG	IVIG BMT (successful)
Outcome	Alive 11 y; immune Hematology/inflammatory features self-resolved	Died in BMT	Alive at reporting	Alive at reporting	Alive post-BMT	Died 6 y	Died 2 mo	Alive after -BMT

NS = not stated; MMF = mycophenolate mofetil; PR = partial response; MR = minimal response; HSM, hepatosplenomegaly; ILD, interstitial lung disease; BMT, bone marrow transplant; Cons, consanguinity; PHA, phytohemagglutinin; IVIG, intravenous immunoglobulin; Prolif, proliferation.