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. Author manuscript; available in PMC: 2021 Feb 3.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2021 Feb 1;72(2):194–201. doi: 10.1097/MPG.0000000000002940

Table 2:

Diagnostic Evaluation

Diagnostic Evaluation
Infectious Studies Patient A Patient B Patient C Patient D
 Adenovirus Blood PCR Neg Neg
 Blood Bacterial Culture Neg Neg Neg
 Cytomegalovirus Blood PCR Neg Neg Neg Neg
 Epstein-Barr Virus Blood PCR Neg Neg Neg Neg
 Enterovirus Blood PCR Neg
 Hepatitis A Antibody Neg Neg Neg
 Hepatitis B Surface Antigen Neg Neg Neg Neg
 Hepatitis C Antibody Neg Neg Neg Neg
 Hepatitis E Antibody Neg Neg Neg
 Herpes Simplex Virus Blood PCR Neg Neg Neg
 Human Herpesvirus 6 Blood PCR Neg Neg Neg Neg
 Human Immunodeficiency Virus Neg Neg Neg Neg
  1/2 Antibody
 Human T-Lymphotropic Virus Neg Neg
  1/2 Antibody
 Parvovirus B19 Blood PCR Neg Neg Neg
 Respiratory Virus Panel Neg Neg
 Urine Bacterial Culture Neg
Genetic Studies
 Alpha-1 Anti-Trypsin Level Normal Normal Normal Normal
 Autoimmune Neg
  Lymphoproliferative
  Syndrome DN TCR / Alpha
  Beta Pos Cells Testing
 Bone Marrow Failure Panel1 Neg
 Ceruloplasmin Normal Normal Normal Normal
 Chromosome Fragility Study Normal Insufficient Cells Normal Insufficient Cells
 Copper (Quantitative, Liver) Normal
 Dyskeratosis Congenita Panel2 Neg
 Fanconi Mutagen Sensitivity Neg Neg Neg
 HLH Panel3 Neg
 Myelodysplastic Syndrome Panel4 Neg Neg
 Paroxysmal Nocturnal Neg
  Hemoglobinuria
  Immunophenotypic Analysis
 Primary Immunodeficiency Panel5 Neg
 Telomere Length Measurement Normal Normal Normal Normal
 Whole Exome Sequencing Neg Neg Mutation: TNFRSF13B, variant c.542C>A
 XIAP Protein Expression Normal
Autoimmune Studies
 ANA Neg Neg Pos 1:80 Neg
 Anti-LKM Neg Neg Neg Neg
 Anti-Smooth Muscle Antibody Neg Neg Neg Neg
 c-ANCA Neg
 Liver Cytosol Antibody Neg Neg
 Lymphocyte Stimulation Low
 p-ANCA Neg
 Panel Reactive Antibody Normal
 Soluble Liver Antigen Neg Neg Neg
Toxin Studies
 Serum Acetaminophen Level Normal Normal Normal
 Urine Drug Screen Neg
Anatomic Evaluation
 Anatomy on Ultrasound* Normal Normal Normal Normal
 Anatomy on MRCP* Normal Normal Normal Normal
*

All imaging had abnormalities consistent with acute hepatitis, but no anatomic abnormalities]

Genes Tested in Panels:

1

ACD, AK2, ANKRD26, ATR, BRCA1, BRCA2, BRIP1, CEBPA, CECR1, CSF3R, CTC1, DDX41, DKC1, ELANE, ERCC4, ETV6, FANCA, FANB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, GFI1B, HAX1, JAGN1, LIG4, MPL, NBN, NHP2, NOP10, PALB2, PARN, PAX5, RAB27A, RAD51, RAD51C, RMRP, RPL11, RPL15, RPL19, RPL23, RPL26, RPL27, RPL31, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SLX4, SRP72, TAZ, TCIRG1, TERC, TERT, THPO, TINF2, TP53, TSR2, UBE2T, USB1, VPS13B, VPS45, WAS, WRAP532

2

DKC1, NHP2, NOP10, TERC, TERT, TINF2, and WRAP53

3

AP3B1, BLOC1S6 (PLDN), TNFRSF7 (CD27), ITK, LYST, MAGT1, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNCI3D, XIAP (BIRC4), 253 Kb inversion, UNC13D (MUNC13–4)

4

Chromosome enumeration assay for interphase cells using chromosome 5, 7, 8, and 20q12 DNA probes; myeloid/lymphoid leukemia (MLL) gene at 11q23

5

ACD, ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, ARPC1B, ATM, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C1QA, C1QB, C1QC, C1S, C2, C3, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CECR1, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLPB, COLEC11, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1C, DDX58, DGKE, DKC1, DNAJC21, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, ERCC6L2, EXTL3, FADD, FAS, FASLG, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GFI1, GINS1, HAX1, HELLS, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1#, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF2BP2, IRF8, ISG15, ITGB2, ITK, JAGN1, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, OFD1, ORAI1, OTULIN, PARN, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLE, POLE2, PRF1, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RECQL4, RFX5, RFXANK, RFXAP, RHOH, RLTPR, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SP110, SPINK5, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TRAF3IP2, TREX1, TRNT1, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24 and ZNF341.