Table 1.

ATM mutations, respiratory infectious problems, immunological results and pneumococcal vaccinations in the A-T patients

Identity	ATM Mutations* paternal/maternal	ATM†	Respiratory infectious problems	MBL‡ (ng/ml)	Immunoglobulins§	Pneumococcal vaccines
NOAT10	3245delATCinsTGAT(fs)/3245delATCinsTGAT(fs)	R/R	Otitis media	327 L	Low IgA, IgG2, IgG4, IgE	PCV7 + PPV23
NOAT 11	3245delATCinsTGAT(fs)/3245delATCinsTGAT(fs)	R/R	Pneumonia, interstitial lung disease	722	Low IgG2	PCV7 + PPV23
NOAT16	3245delATCinsTGAT(fs)/3245delATCinsTGAT(fs)	R/R	Pneumonia	132 L	Low IgG2, IgG3, IgG4, IgE	PCV7 + PPV23
NOAT17	6890A > C(ms)/3245delATCinsTGAT(fs)	R/a	None	158 L	High IgD.Low IgG2, IgE	PCV7 + PPV23
NOAT18	3245delATCinsTGAT(fs)/4110delG(ss)	R/a	None	3032	High IgD.Low IgA, IgG2, IgE	PCV7 + PPV23
NOAT4	8978delGAAAinsAT(fs)/7875TG > GC(ds)	a/a	None	ND	High IgM, IgD, IgG1.Low IgA, IgG2, IgG3, IgE	PCV7 + PPV23
NOAT13	8432delA(fs)/8432delA(fs)	a/a	None	59 L	High IgG1.Low IgA, IgE	PCV7 + PPV2
NOAT15	4110delG(ss)/2938delA(fs)	a/a	Chronic secretory otitis	629	Low IgG4	PCV7 + PPV23
NOAT20A	5932G > T(ns)/2880delC(fs)	a/a	Otitis media	78 L	High IgMLow IgA, IgG3	PCV7 + PPV23
NOAT20B	5932G > T(ns)/2880delC(fs)	a/a	Pneumonia	108 L	Low IgA, IgG2, IgG3, IgG4, IgE	PCV7
NOAT21A	Not defined/not defined	a/a	None	3910	Low IgG2, IgE	PCV7
NOAT21B	Not defined/not defined	a/a	None	3136	Low IgA, IgG4, IgE	PCV7

^*Mutations in ATM gene are designed according to recommended nomenclature [31–33] Abbreviations: Ins, insertion; del, deletion; fs, frame shift; ds, double substitution; ms, missense; ns, nonsense and ss, splice site mutation;

^†R/R, homozygous for the Norwegian founder mutation; R/a, compound heterozygous for the founder mutation; a/a, other mutations in ATM, founder mutation excluded.

^‡MBL, Mannose binding lectin, Low MBL values are marked L; ND, Not done

^§Age specific reference values according to Supplement in reference [4].