Table 1.

Clinical features of patients with IL-21R deficiency

Patient	Total n (%)	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	P11	P12	P13
First description		Erman 2015	Novel	Novel	Novel	Kotlarz 2014	Novel	Kotlarz 2013	Kotlarz 2013	Kotlarz 2013	Kotlarz 2013	Ives 2013	Stepensky 2015	Novel
Age		11	1	8*	9	19*	19	4*	10*	18*	9*	15*	15	6
Sex		Male	Female	Male	Male	Male	Female	Male	Male	Male	Male	Female	Female	Female
Age of onset (years)		0.5	-***	1	1.5	4	2	2	4	5	3	3	2	-***
Age at diagnosis (years)		5	1	2	6	19	19	n\a	n\a	13	8	13	8	0.3
Consanguinity		+	+	+	+	+	+	+	+	+	+	+	+	+
Bacterial infections
Recurrent bacterial respiratory infections	11 (84.6)	+		+	+	+	+	+	+	+	+	+	+
Bronchiectasis	6 (46.2)				+	+	+			+		+	+
Recurrent otitis media	6 (46.2)	+				+				+	+	+	+
Respiratory mycobacterial infections	2 (15.4)					M. tuberculosis					M. massilense
Fungal infections
Fungal respratory infections	5 (38.5)			P. jirovecii		+				P. jirovecii	P. jirovecii		P. jirovecii
Candidiasis	5 (38.5)			Esophageal		Hepatosplenic			Esophageal	Esophageal	Systemic
Parasitic infestations
Cryptosporidiosis-associated cholangitis	6 (46.2)	+						+	+	+	+	+
Cryptosporidiosis intestinal inflammation	5 (38.5)	+		+					+	+	+
Viral infections					Rubella persistance	CMV penumonia, CMV retinitis,				Chronic norovirus infection	Chronic norovirus infection	CMV infection
Inflammatory complications
Liver fibrosis	2 (18.2)							+	+
Failure to thrive	5 (38.5)	+		+					+	+	+
Asthma	3 (23.1)				+	+	+
Other				Polydactily, celiac-like findings, giardiasis	Recurrent bronchiolitis, hepatomegaly	Mediastinal and intestinal lymphadenopathy, lupus-like skin inflammation	Food allergies		Recurrent sinusitis, H. pylori associated gastritis, hepatomegaly		Bacteremia. Hematogenous spread of M. massilense	H. pylori gastritis
Treatment		HSCT, Prophylactic antibacterial therapy and IVIG	Prophylactic antibacterial therapy and IVIG	Prophylactic antibacterial therapy and IVIG	Steroids, Prophylactic antibacterial therapy and IVIG	HSCT, prophylactic antibacterial therapy, Voriconazole and IVIG	Omalizumab, Prophylactic antibacterial therapy and IVIG	Liver transplant at age 4 y	HSCT	Prophylactic antibacterial therapy and IVIG	Prophylactic antibacterial therapy and IVIG	HSCT, prophylatic antibacterial therapy, IVIG	HSCT	HSCT
Outcome		Died due to pulmonary aspergillosis day +61 post-HSCT	Alive	Died due to severe diarrhea	Died due to pulmonary complications	Died due to multiorgan failure day +55 post-HSCT	Alive	Died due to bacteremia, systemic CMV infection and multiorgan failure day +542	Died due to multiorgan failure and graft rejection day +84	Died due to liver and respiratory failure	Died due to infectious complications with liver and renal failure	Died due to severe digestive GvHD/CMV ARDS day +149 post-HSCT	Alive	Alive

n/p not published, n/a not applicable, * age at time of death, ** age at clinical description, ***asymptomatic, CMV cytomegaly virus, HSCT hematopoietic stem cell transplantation, IVIG intravenous immunoglobulin stubstitution, ARDS acute respiratory distress syndrome