Table 1.

Reported patients with putatively hypomorphic IL2RG mutations with atypical X-SCID/CID phenotype

Mutation	Number of patients	Onset	CD3+ counts	Susceptibility to infections	Opportunistic infections	Bronchiectasis	Diarrhea	Lymph tissue	T cell responses to mitogen stimulation	T cell responses to other stimuli	S/P-IgG	S/P-IgA	S/P-IgM	S-IgE	Responses to vaccine	SCIG/ IVIG treatment	HSCT	Ref
c.115G>A, p.Asp39Asn) and c.115_116ins (27 bp)	1	9 mo	↓/n	+	n/a	n/a	+	↓	↓	↓	n	n	n	↑	↓	–	–	[41, 52]
c.878T>A, p.Leu293Glu	3	0–12 mo	↓	+	+	+/ -	n/a	↓	↓	n/a	n	n/a	n/a	↑, n/a	↓, n/a	–	–	[11, 53]
c.664C>T, p.Arg222Cys	15	2–12 mo	↓/ n; ↓(CD4+), ↓/ n (CD8+)	+	+/−	+/−, n/a	±, n/a	n/↑, n/a	n/↓ n/a	n/↓	n/↓, n/a	n/↓, n/a	n/↓, n/a	↑, n/a	↓, n/a	+	+	[26, 27, 38, 40, 54]
c.485T>G, p.Leu162Arg	1	3	↓	+	+	n/a	n/a	n/a	↓	↓	↓	↓	n	↑/n	n/a	+	–	[27]
c.-105C>T	2	2–14 y	n	+	n/a	+/−	n/a	n/a	↓	↓	n/↓	n	↑/n	n/a	↓	+	–	[13]
c. 52delC, p.Leu18Cysfsstop/Leu18Cysfs*6 (HGMD)	1	15 mo	↓	+	–	n/a	+	n/a	n/a	n	n	↓	n	n/a	n/a	–	–	[55]
c.890A>G, p. Glu297Gly	1	2 y	↓	+	+	n/a	+	n/a	n	n	n	↔	↔	n/a	↓	+	+	[29]
c.982C>T, p.Arg328stop	1	16 mo	↓	+	–	+	n/a	↑	n/↓	↓	n	n	n/a	n/a	n	+	–	[28]
c.87delG, p.Asn31MetfsTer12	2	0–6 mo	n/↑	+	+	n/a	+	n/a	↓	n/a	n/↑	↑	↑	n/↑	↓	+	+	[39]
c.172C>T, p.Pro58Ser	2	0–2 y	n/↓	+/−	–	+; n/a	+; n/a	n; n/1	n/↓	↓	n	n/↔	n	n; n/a	↓; n/a	+/−	–	pres. cases

Listed here are the cases that did not meet the criteria for typical SCID (CD3+ count < 300/μl) defined in [56, 57] and either displayed no signs of somatic mosaicism or maternal engraftment or did not address the issue. In one additional case (not listed here), both absolute CD3+ counts and mitogen responses fluctuated so that unambiguous categorization was rendered impossible [33]

n = normal value, ↓ = value below normal range, ↑ = value above normal range, ↔ = borderline value, n/a = not available; reference values author-defined

^aB cells and NK cells were typically in the normal range with 4 exceptions; 2 individuals with NK↓ [27], 1 individual B↓NK↓ [26] and 1 individual B↑ [38]