Table 1.

Mutation analysis in patients presenting with B cell–negative SCID

FamilyDiagnosis*MutationPolymorphismConsanguinity
of parents
DNA level†Protein levelDNA level†Protein level
RAG-SCID 1 OS RAG1631delT1-153 Codon 199 stop RAG1G858A1-153 Arg249His Yes  
RAG-SCID 2‡ T−B−SCID RAG2 1913delG1-153 Codon 247 stop RAG1 A2571G1-153 Lys820Arg Yes 
RAG-SCID 3 T−B−SCID RAG2A2643C1-155 His481Pro   Yes  
RAG-SCID 4‡ T−B−SCID RAG2 1913delG1-155 Codon 247 stop RAG1 A2571G1-155 Lys820Arg Unknown 
RAG-SCID 5 OS RAG2T2558A1-153 Trp453Arg RAG1G858A1-153 Arg249His No  
RAG-SCID 6 T−B− SCID RAG2C1247T1-155 Gln16 stop   No  
RAG-SCID 7 T−B− SCID RAG1G1323A1-155 Arg404Gln RAG1G858A1-155 Arg249His No 
FamilyDiagnosis*MutationPolymorphismConsanguinity
of parents
DNA level†Protein levelDNA level†Protein level
RAG-SCID 1 OS RAG1631delT1-153 Codon 199 stop RAG1G858A1-153 Arg249His Yes  
RAG-SCID 2‡ T−B−SCID RAG2 1913delG1-153 Codon 247 stop RAG1 A2571G1-153 Lys820Arg Yes 
RAG-SCID 3 T−B−SCID RAG2A2643C1-155 His481Pro   Yes  
RAG-SCID 4‡ T−B−SCID RAG2 1913delG1-155 Codon 247 stop RAG1 A2571G1-155 Lys820Arg Unknown 
RAG-SCID 5 OS RAG2T2558A1-153 Trp453Arg RAG1G858A1-153 Arg249His No  
RAG-SCID 6 T−B− SCID RAG2C1247T1-155 Gln16 stop   No  
RAG-SCID 7 T−B− SCID RAG1G1323A1-155 Arg404Gln RAG1G858A1-155 Arg249His No 
*

Diagnoses were obtained in PB.

†

Numbering of RAG1 gene according to Schatz et al,3 RAG2 gene according to Ichihara et al.5 

‡

Patients from different families with identical mutations.

F1-153

Homozygous mutation, both parents were carrier.

F1-155

Seemingly homozygous mutation, but deletion of the other allele was not ruled out.

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