Pediatric Rheumatology

Table 2 A summary of PAMI cases within the literature

From: PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Author	Number of patients described	Genotype	Phenotype
Author	Number of patients described	Genotype	Hepato-splenomegaly	Pyoderma gangrenosum	Cystic acne	Arthritis	Growth failure	Other symptoms	White cell count (10^9/L)	C-reactive protein (mg/L)	Serum zinc (umol/L)	Serum calprotectin (mg/L)
Our case (B Gillies Whiteside et al. 2022) [3]	1	E250K	No	No	No	No	No	Seizures secondary to bilateral infarction, speech and cognitive delay	12.1	71	> 160	> 15,000
G Del Borello et al. 2021 [4]	1	E250K	Yes	No	No	No	Yes	Dysmorphic features, developmental delay, lymphadenopathy	Unknown	300	Unknown	Unknown
P Dai et al. 2019 [5]	1	E250K	Yes	Unknown	Unknown	Yes	Unknown	Proteinuria	1.4	> 1000	98	5000
M Mejbri et al. 2019 [6]	1	E250K	Yes	Unknown	Unknown	Yes	Unknown	Multifocal osteomyelitis	Unknown	Unknown	Unknown	Unknown
S Hashmi et al. 2018 [7]	2	E250K	Yes	Unknown	Unknown	Yes	Unknown	Lymphadenopathy	2.1	460	111	Unknown
S Hashmi et al. 2018 [7]	2	E257K	Yes	Unknown	Unknown	Yes	Yes	Lymphadenopathy	1.8	251	143	Unknown
H Klotgen et al. 2018 [8]	1	E250K	Yes	No	Yes	Yes	Unknown	Ulceration, sterile osteomyelitis	Unknown	68	140	2050
E Belelli et al. 2017 [9]	1	E250K	Yes	Unknown	Unknown	Yes	No	Nil	2.8	84	388,000	2.6 × 10^6
E Lindwall et al. 2015 [10]	1	E250K	Yes	Yes	Yes	Yes	Unknown	Osteomyelitis, epistaxis, renal failure	Unknown	65	Unknown	Unknown
K Khatibi et al. 2015 [11]	1	E257K	No	No	No	No	No	Cerebral artery vasculopathy and subarachnoid haemorrhage	Unknown	Unknown	Unknown	Unknown
D Holzinger et al. 2015 [12]	14	E250K	Yes	Yes	No	Yes	No	Dermatitis, liver failure	3.8	146	77	Unknown
		E250K	Splenomegaly	No	No	No	Yes	Nil	3.2	140	118	Unknown
		E250K	Yes	No	No	Yes	Yes	Chronic necrotic lesions, muscular atrophy	3.8	223	147	Unknown
		E250K	Yes	Yes	No	Yes	Yes	Dermatitis, liver failure, impaired motor development	1.5	60	82	Unknown
		E250K	Yes	No	No	Yes	Yes	Chronic necrotic lesions	5	138	113	Unknown
		E250K	Yes	No	No	No	Yes	Abscesses	4.5	206	211	Unknown
		E250K	Yes	No	No	Yes	Yes	IgA nephropathy	1.3	140	200	Unknown
		E250K	No	No	No	No	Unknown	Nil	4	57	98	Unknown
		E250K	No	No	Yes	Yes	Unknown	Abscesses	2.8	24	58	Unknown
		E250K	Splenomegaly	No	No	Yes	Yes	Erythema multiforme, osteitis	1.7	160	52	Unknown
		E250K	Splenomegaly	Yes	No	Yes	No	Ulceration, von Willibrand Factor deficiency	0.08	72	110	Unknown
		E250K	Yes	No	No	No	Yes	Dactylitis, eczema, impaired motor development	1.9	60	144	Unknown
		E250K	Yes	Yes	No	Yes	Yes	Glomerulonephritis	1.6	82	130	Unknown
		E257K	Yes	Yes	Yes	No	No	Recurrent ear infections and hearing loss	1.07	46	64	Unknown
A Demidowich et al. 2012 [13]	5	A230T	Unknown	Yes	Yes	Yes	Unknown	Sterile abscesses	Unknown	Unknown	Unknown	Unknown
		E250Q	Unknown	Yes	No	Yes	Yes	Sterile abscesses, sterile osteomyelitis, recurrent otitis	Unknown	Unknown	Unknown	Unknown
		A230T	Unknown	Yes	Yes	Yes	Unknown	Sterile abscesses, recurrent otitis	Unknown	Unknown	Unknown	Unknown
		A230T	Unknown	Yes	No	Yes	Unknown	Nil	Unknown	Unknown	Unknown	Unknown
		E250K	Yes	Yes	No	Yes	Unknown	Lymphadenopathy	Unknown	Unknown	Unknown	Unknown
H Lee et al. 2012 [14]	2	E257K	Yes	Unknown	Unknown	Unknown	Yes	Osteomyelitis, epistaxis	1.8	250	> 122	Unknown
H Lee et al. 2012 [14]	2	E250K	Unknown	Yes	Yes	Yes	Unknown	Ulceration	Unknown	< 5	Unknown	Unknown
B Isidor et al. 2009 [15]	1	Unknown	Yes	Unknown	Unknown	Yes	Yes	Chronic necrotic lesions, recurrent epistaxis	9.9	223	24	2310
T Sugiura et al. 2006 [16]	1	Unknown	Unknown	Yes	No	Yes	Yes	Impaired development	2.4	60	182	12,500
S Fessatou et al. 2005 [17]	1	Unknown	Unknown	Unknown	Unknown	Unknown	Yes	Nil	7	140	4.7	2923
B Sampson et al. 2002 [18]	5	Unknown	Yes	No	No	Yes	Yes	Vasculitis	2	143	200	6500
		Unknown	Yes	No	No	Yes	Yes	Nil	5	200	96	2550
		Unknown	Yes	No	No	Yes	Yes	Nil	1.5	22	200	9000
		Unknown	Yes	No	No	Yes	No	Vasculitis, uveitis, eczema	5	17	175	6100
		Unknown	Yes	No	No	Yes	No	Vasculitis, ulceration	3.8	146	77	1500

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ISSN: 1546-0096

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