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Table 3 Clinical data and Btk mutations of 16 patients reported in the world literature with atypical XLA.

From: X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature

   Serum Ig level (mg/dL)* Btk Mutation  
Patient no. Age (yrs) ϕ IgG IgA IgM Nucleotide Change Domain Reference
P1 51 401 <7 15 567C>A TH 12
P2 26 169 8 7 UD UD  
P3 25 773 UD 1 UD UD 4
P4 34 420 UD UD UD UD  
P5 27 635 <5 11 Glu605stop SH1 9
P6 40 <20 <20 22 G>Aψ NA 5
P7 39 220 UD UD W563L SH1  
P8 60 429 7 14 994C>T SH2 6
P9 27 132 7 17 230C>T PH 10
P10 21 35 8 29 1630A>G SH1 8
P11 32 462 <8 <7 227T>C PH  
P12 32 702 185 <25 1706G>A SH1  
P13 28 454 95 38 UD UD 11
P14 27 346 16 8 1705C>T SH1  
P15 24 NA 0 1 1942-1943del AG SH1  
P16 31 527 8 30 UD UD  
  1. UD, Undetermined; NA, Not applicable
  2. * Serum immunoglobulins reported at the age of diagnosis
  3. ϕ Age at diagnosis
  4. ψ Splice site mutation at the 3' end of intron 13: IVS 13 -1 G>A