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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: J Allergy Clin Immunol. 2015 Apr 25;136(1):140–150.e7. doi: 10.1016/j.jaci.2015.03.005

Table 1.

Genotype and clinical presentation of ARTEMIS-deficient patients

Allele 1 Allele 2 Protein Age at
diagnosis		 Infections Autoimmunity/
Lymphoproliferation		 Malignancy Immunology Radiosensitivity Reference
SCID
c.47T>C c.356C>G I16T; S119* 1mo LRI, oral thrush T−B−NK+ sensitive 20
c.82G>C c.82G>C A28P T−B−NK+ sensitive 11
c.95C>T del Ex 1-3 S32F 19
c.95C>G 2N/A S32C 1
c.110A>G c.110A>G D37G 2mo moniliasis, gastroenteritis T−B−NK+ sensitive 4
c.241C>T c.241C>T R81* 9
c.281delC c.281delC S94fs*2 TmatB−NK+ 11
c.353G>T c.353G>T G118V 5mo LRI, PJP, CMV T−B−NK+ sensitive 22
c.353G>T c.353G>T G118V T−B−NK+ 11
c.362T>C del Ex 1-3 M121T 8mo LRI T−B−NK+ agamma unpublished
c.404G>A c.404G>A G135E 4mo VZV sensitive 22
c.493G>A c.493G>A D165N 3
c.494A>T c.494A>T D165V T−B−NK+ 11
c.571C>T N/A R191* unpublished
c.597C>A c.597C>A Y199* oral and genital ulcers 10
c.682C>A c.682C>A H228N T−B−NK+ sensitive 11
c.716delC c.716delC P239Lfs*46 8mo recurrent URI, oral thrush, chronic diarrhea T−B−NK+ unpublished
c.761A>T c.309delG (splice site) H254L; K103fs 25
c.781delG c.781delG A261Qfs*24 9
c.1050delA c.1050delA V381Lfs*5 T−B−NK+ 11
c.1140_1146delAGTTCAC c.1140_1146delAGTTCAC V383Efs*19 TmatB−NK+ sensitive 11
c.1147C>T c.1147C>T R383* TmatB−NK+ 11
c.1167_1168insAG c.delEx3 D390Rfs*13 2mo URI T−B−NK+ hypogam sensitive 26
c.1179delT c.1179delT F393Lfs*9 3mo LRI, PJP, oral thrush, CMV T−B−NK+ hypogam sensitive 20
c.1391_1395delGAATC c.1391_1395delGAATC G464Afs*18 1mo LRI, GI T−B−NK+ sensitive 4
Omenn Syndrome
c.2T>C c.103C>G M1T; H35D 5mo sepsis, BCG alopecia, erythrodermia, lymphadenopathy, hepato/splenomegaly, granuloma lymphoma ThiB−NK+ hypogam
TCR repertoire 25% of WT		 sensitive 13
Leaky SCID
c.1A>C c.401C>G M1V; T134R 6mo pharyngitis, stomatitis, gastroenteritis T−B−NK+ unpublished
c.19C>T c.457G>A Q7*; G153R 73% CD3
3% CD19 of MNC in BM		 19
c.194C>T N/A T65I 18mo pulmonary TB T−B−NK+ unpublished
c.211A>C del Ex 1-3 T71P 10mo (onset) URI, Pseudomonas soft tissue infection AIHA, neutropenia, thrombocytopenia, lymphadenopathy hepato/splenomegaly TloBloNK+ low IgA and IgG2; absent response to vaccine (Hib and tetanus); proliferation to PHA initially normal, later absent 21
c.211A>C del Ex 1-3 T71P birth URI, oral candidiasis AIHA TloB−NK+ low IgG, absent IgA; decreased TRECs; poliferation to PHA initially normal, later absent 21
c.207_209delGTT c.377G>A L70del; G126D 4.5y URI, Candida AIHA TloB+NK+ hypogam no specific Ab response sensitive 23
c.400A>G del Ex 1+ (not specified) T134A lymphadenopathy Tlo, polyclonal T cells, proliferation to PHA >30% of normal unpublished
c.512C>G c.insInt2b P171R 27y Candida, HPV, fungal brain abscess neutropenia, thrombocytopenia bilateral carcinoma in situ of nipples TloBloNK+ abnormal T cell proliferation mildly sensitive 24
c.512C>G c.1299_1306dupAGGATGCT P171R; C436* 7y URI, LRI lymphadenopathy, granulomatous inflammation Hodgkin lymphoma TloB−NK+ absent IgA 24
c.1290_1306delACAAACCCCAGGATGCT c.1290_1306delACAAACCCCAGGATGCT T432fs*16 4y LRI, GI cholangitis and liver cirrhosis (died at 16y) TloBlo hypogam 27
c.1353_1359delTTGTGAA c.delEx1-3 D451Kfs*11 birth LRI, Candida AIHA, ITP, cervical lymphadenopathy lymphoma (9mo) T−B−NK+ monoclonal IgG, absent IgA 27
c.1353_1359delTTGTGAA c.delEx1-3 D451Kfs*11 birth LRI, Candida lymphoma TloBlo hypogam 27
c.1353_1359delTTGTGAA c.delEx1-3 D451Kfs*11 1y URI, LRI, CNS Toxo TloB−NK+ hypogam sensitive 27
c.1464delG c.1464delG Q488fs 1mo URI, LRI, CMV oral ulcers, sclerosing cholangitis, thrombocytopenia, hepatosplenomegaly TloB−NK+ LGL cells, hypogam 28

Ab, antibody; agamma, agammaglobulinemia; AIHA, autoimmune hemolytic anemia; BCG, Bacillus Calmette-Guérin; BM, bone marrow; CMV, cytomegalovirus; CNS, central nervous system; GI, gastrointestinal infection; HPV, human papillomavirus; hypogam, hypogammaglobulinemia; ITP, idiopathic thrombocytopenic purpura; LGL, large granular lymphocytes; LRI, lower respiratory infections; MNC, mononuclear cells; N/A, not available; PJP, Pneumocystis jirovecii pneumonia; PHA, phytohemagglutinin; TB, Tuberculosis; TCR, T cell receptor; Tmat, maternal T cells; Toxo, Toxoplasmosis; TRECs, T cell receptor excision circles; URI, upper respiratory infection; VZV, varicella zoster virus