Table 2.

Characteristics of reported patient carrying the IL2RG^115G>A missense mutation.

	DiSanto et al. (16), de saint basile et al. (17)	Belaid et al.
Patient (age, ethnicity)	5 1/2-year-old Portuguese male	7-year-old Algerian male
Consanguinity	No	No
Medical history	protracted diarrhea, otitis media	Persistent eczema, recurrent infections, cutaneous leishmaniasis
Family history	3 maternal uncles and 2 older brothers died of bronchopneumonitis with bronchiectasis, skin infections, protracted diarrhea, and failure to thrive	2 maternal uncles died of recurrent infections with bronchiectasis.
Onset	9-month-old	4-year-old
Immunological findings
Thymic shadow	extreme thymic atrophy with rare Hassal’s corpuscles	n.a
Blood count	Normal	Normal
Immunophenotype	Tlow, B+, NK+	T+, B+, NK+
γδ T cells	Normal	Normal
Microbiological examination	Poliovirus, Bordetella pertussis	leishmania infantum
Extended immunophenotyping	T cells skewed to the memory phenotype	T cells skewed to the memory phenotype, profound decreased of naïve T cells, normal distribution of B cells, reduced Th1.
Immunoglobulin levels	Normal with elevated IgE levels	Hypergammaglobulinemia with extremely high IgE levels.
TCR-Vβ repertoire	limited TCRβ heterogeneity and diminished functional activity	n.a
Lymphocyte proliferation	Reduced	Reduced
IL2RG expression	n.a	Severely reduced (by FCM)
IL21/STAT3 phosphorylation	n.a	n.a
IL2 &IL7/STAT5 phosphorylation	n.a	Partially defective
IL4/STAT6 phosphorylation	n.a	Partially defective
TRECs	n.a	n.a

n.a, not assessed; FCM, flow cytometry; TRECs, T-cell receptor excision circles.

Both Disanto et al, and de Saint Basile et al. had reported the same case.