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. 2024 Jan 2;44(1):39. doi: 10.1007/s10875-023-01640-2

Table 2.

Mutation details

Gene Patient presentation Zygosity Transcript DNA sequence mutation Protein sequence change
ADA Clinical Compound heterozygous n/r

c.646G > A

c.838_841delGTCA

p.Gly216Arg

p.Ala278fs*29
ADA NBS Compound heterozygous NM_000022.3

c.218 + 1G > A

c.489dup

n/r

p.Lys164Glnfs*7
IL2RG Clinical Hemizygous n/r c.268 T > C p.Leu85Pro
IL2RG Clinical Hemizygous n/r c.591_601delCAAGGAACAAT n/r
IL2RG Clinical Hemizygous n/r c.591_601delCAAGGAACAAT n/r
IL2RG Clinical Hemizygous n/r n/r p.Tyr89Cys
IL2RG Clinical Hemizygous NM_000206.2 c.41 T > C p.Leu14Pro
IL2RG NBS Hemizygous NM_000206.2 c.322 T > C p.Ser108Pro
IL7R Clinical Compound heterozygous NM_002185.3

c.616C > T

c.617G > A

p.Arg206*

p.Arg206Gln
IL7R Clinical Homozygous n/r c.353G > A p.Cys118Tyr
IL7R Clinical Homozygous n/r n/r n/r
JAK3 NBS Compound heterozygous NM_000215.3

c.385del

c.2647A > C

p.Asp130Thrfs*17

p.lle883Leu
LIG4 Clinical Compound heterozygous n/r

c.877C > T

c.1345A > C

 n/r
NHEJ Clinical Homozygous NM_024782.2 c.506A > T p.Glu169Val
RAG1 Clinical Compound heterozygous n/r

c.1794C > A

c.C2387T

p.Arg561His

p.Arg759Cys
RAG1 NBS Compound heterozygous NM_000448.2

c.1331C > T

c.2018_2025del

p.Ala444Val

p.Ala673Glufs*6
RAG1 NBS Compound heterozygous NM_000448.2

c.256_257del

c.2488A > T

p.Lys86Valfs*33

p.Lys830*s
RAG1 NBS Compound heterozygous NM_000448.2

c.413del

c.2487_2488delinsTT

p.Leu138Glnfs*26

p.Arg829_Lys830delinsSer*
RAG1 Clinical Compound heterozygous NM_000448.2

c.535dup

c.2918G > A

p.Cys179Leufs*10

p.Arg973His
RAG2 Clinical Compound heterozygous NM_000536.2

c.475C > T

c.1352G > C

p.Arg159Cys

p.Gly451Ala
RMRP Clinical Compound heterozygous n/r

c.4C > T

c.35C > T

 n/a
RMRP NBS Compound heterozygous NR_003051.3

c.5C > T

c.-24_-12dup

 n/a

ADA, adenosine deaminase; IL2RG, interleukin 2 receptor gamma; IL7R, interleukin 7 receptor alpha chain; JAK3, Janus kinase 3; LIG4, DNA ligase 4; n/a, not applicable; NBS, newborn screening; NHEJ1, nonhomologous end-joining factor 1; n/r, not reported; RAG1, recombination activating gene 1; RAG2, recombination activating gene 2; RMRP, RNA component of mitochondrial RNA-processing endoribonuclease