Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature

Sharifinejad, Niusha; Mahdaviani, Seyed Alireza; Jamee, Mahnaz; Daneshmandi, Zahra; Moniri, Afshin; Marjani, Majid; Tabarsi, Payam; Farnia, Parisa; Rekabi, Mahsa; Fallahi, Mazdak; Hashemimoghaddam, Seyedeh Atefeh; Mohkam, Masoumeh; Bustamante, Jacinta; Casanova, Jean-Laurent; Mansouri, Davood; Velayati, Ali Akbar

doi:10.1186/s12969-021-00623-0

Pediatric Rheumatology

Table 2 An overview of the clinical and immunological findings in reported MSMD patients with vasculitis

From: Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature

NO.	Mutated geneion site	Mutation type	sex	Con.	FH.	AOO (Mo)	BCG vaccination	BCG disease	LAP location	Salmonellosis	Candidiasis	Vasculitis	Vasculitis age (Y)	Other manifestations	Immunologic abnormality	treatment	outcome	country	Ref.
P1	IL-12RB1	r.783 + 1G > A	M	+	+	60	NV	–	Cervical,mesentric,mandibular	Sd	–	Leukocytoclastic vasculitis	UN	Bacteriemia, Acinetobacter adenitis	–	AB	Alive	Turkey	[20]
P2	IL-12RB1	R173P	F	+	–	2	+	L	Axillary,submandibular,cervical,inguinal	Se,Sc	–	Leukocytoclastic vasculitis	7.0	Hepatosplenomagaly, mycobacterial abcess	–	AB,AM,INFG	Alive	Turkey	[21]
P3	IL-12RB1	557_563delins8	F	UN	UN	UN	+	L	UN	St,Se,Stm	+	Vasculitis	UN	UN	UN	UN	Alive	Turkey	[22]
P4	IL-12RB1	783 + 1G > A	F	UN	+	UN	NV	–	UN	SD,SB	+	Leukocytoclastic vasculitis	UN	UN	UN	UN	Alive	Turkey	[22]
P5	IL-12RB1	783 + 1G > A	F	+	–	8	+	L	Axillary,submandibular	Se	+	Leukocytoclastic vasculitis	1.83	bacteriemia	Hypogammaglobulinemia	AB	Alive	Turkey	[10]
P6	IL-12RB1	1791 + 2 T > G	M	–	–	4	+	L	Axillary,cervical,peripheral	Se	–	Leukocytoclastic vasculitis	0.58	Hepatosplenomagaly, Bacteriemia	–	AB,AM	Alive	Tunisia	[23]
P7	IL-12RB1	UN	M	+	+	84	UN	UN	Abdominal	St	–	Leukocytoclastic vasculitis	7	Splenomegaly, bacteriemia K. kristinae,skin rash,	Positive ANA,Coombs HIgA,HIgG Low CD4+, high CD8+	AB	Alive	Israel	[24]
P8	IL-12RB1	c.21G > A	M	–	–	6	+	L	Axillary	+	–	Leukocytoclastic vasculitis	5	Ankle arthritis,pytiriasis	Positive RF, Hypogammaglobulinemia	AB,AM	Alive	Brazil	[25]
P9	IL-12RB1	c.1561C > T	UN	UN	UN	UN	UN	UN	UN	+	+	Leukocytoclastic vasculitis	UN	Disseminated histoplasmosis	UN	UN	UN	France	[11]
P10	IL-12RB1	c.523C > T	F	–	–	12	+	L	Axillary	St,Stm	+	Leukocytoclastic vasculitis	UN	mycobacterial abcess	Low CD3+, Hypogammaglobulinemia	UN	Alive	Turkey	[26]
P11	IL-12RB1	c.261C > A	M	+	–	24	UN	UN	Axillary, cervical, mesenteric	St	UN	Urticarial vasculitis	UN	Typhoid fever	Low CD4+, Low CD19+, HIgA	UN	Alive	Turkey	[26]
P12	IL-12RB1	c.962C > A	M	+	+	1	+	L	UN	St	+	Leukocytoclastic vasculitis	UN	Hepatomegaly mycobacterial osteomyelitis, prolonged diarrhea,bacteriemia,IBD like lesions,AIHA	Positive ANA,Coombs	AB+AM+prednisolone	Alive	India	[3]
P13	IL-12RB1	c.517C > T	M	+	+	UN	+	+	Bilateral	+	–	Henoc-Schönlein purpura	UN	Hepatosplenomagaly, liver abscess, osteomyelitis,seizure,meningitis due to TB	HIgG, hypo IgM	INFG	UN	Iran (Turk)	[27]
P14	IL-12RB1	c.1791 + 2 T > G	F	+	UN	UN	+	+	Bilateral	–	+	Henoch-Schönlein purpura, Vasculitis	UN	Hepatosplenomagaly, severe diarrhea	HIgG, HIgA, HIgE	UN	UN	Iran (Fars)	[27]
P15	IL-12RB1	UN	UN	UN	UN	UN	+	L	+	Se	UN	Vasculitis	8	UN	Positive RF, Hypogammaglobulinemia	AB,INFG, Glucocorticoids	Alive	Russia	[28]
P16	IL-12RB1	c.783 + 1G > A	F	+	+	9	NV	–	+	+	+	Leukocytoclastic vasculitis	UN	UN	UN	UN	Alive	Turkey	[28]
P17	IFNGR2	R114C	F	+	–	UN	+	D	Cervical	–	–	Disseminated skin vasculitis	16	Cellulitis, M. abscessus infection	UN	AB,AM,INFG	Alive	France	[29]
P18	IFNGR1	818del4	F	UN	+	78	UN	UN	Cervical,inguinal	–	–	Henoc-Schönlein purpura	6.7	Lung abcess, liver abcess with E. faecium	UN	AB,AM,INFG	Alive	Norway	[30]

UN Unknown, M Male, F Female, Con Consanguinity, FH Family history, AOO Age of onset, Mo Month, BCG Bacille Calmette-Guerin, D disseminated, L localized, NV Not vaccinated, LAP Lymphadenopathy, Stm S. typhimurium, Se S. enteritidis, SB S. group B, SD S. group D, St S. typhi, ANA Anti-nuclear antibody, AIHA Autoimmune hemolytic anemia, RF Reumatoid factor, HIg High immunoglobin level, AB Anti-biotic, AM Anti-mycobacterial, INFG Interferon gamma, INFGR2 Interferon gamma receptor 2, IL-12RB1 Interleukin 12 receptor beta 1

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