Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network

Table 3 Physician-reported prevalence of 15 PI defects by region, 2021 report

		US	Canada	Latin America	West Europe	East Europe	Middle East	Asia	Australia	Africa	Global total
1	CVID, unknown	5551	694	1191	5592	1100	753	312	615	161	15,969
2	Selective IgA deficiency	3596	63	1550	3577	2298	320	71	94	23	11,592
3	Isolated IgG subclass deficiency	986	13	136	4,105	333	165	30	240	16	6024
4	TBX1 (DiGeorge, Chromosome 22q11.2 deletion syndrome), AD	2,384	150	325	1560	614	105	170	37	28	5373
5	Transient hypogammaglobulinemia of infancy	900	136	602	437	2500	118	56	9	41	4799
6	Specific antibody deficiency (normal Ig and B cells)	3029	119	589	744	74	66	32	46	9	4708
7	ATM (Ataxia-telangiectasia), AR	1262	63	267	528	487	255	61	17	126	3066
8	BTK (BTK deficiency, XLA) XL	527	101	361	811	342	170	375	116	60	2863
9	MEFV (Familial Mediterranean fever), AD	223	18	31	441	90	1612	23	32	32	2502
10	TNFRSF13B (TACI deficiency), AR or AD	2122	5	18	223	20	9	14	3	3	2417
11	DiGeorge Syndrome, unknown	988	103	135	347	301	150	85	12	41	2162
12	C1QA (C1q deficiency), AR	167	27	133	1264	177	29	10	0	11	1818
13	CYBB (X-linked CGD (gp91 phox)), XL	356	45	211	441	202	63	378	17	39	1752
14	IgG subclass deficiency with IgA deficiency	574	73	84	691	149	52	30	0	20	1673
15	WAS [Wiskott-Aldrich syndrome (WAS LOF)], XL	282	49	181	455	215	69	237	26	23	1537
Total		22,947	1659	5814	21,216	8902	3936	1884	1264	633	68,255

The distribution of the 15 most commonly identified PI defects globally by region

ISSN: 1710-1492