Table 1.

Immunological characteristics of patients with FNIP1 deficiency

P1Age-matched normal valuesP2Age-matched normal valuesP3Age-matched normal values
Age at the time of evaluation, y 3  9  25  
Coordinates (hg19) Chr5 Homozygous 131042150_G>A  Homozygous 130987494_C>T  Compound heterozygous 130766131_131044371 (min interval) 130987583del 
Variant(s) (NM_133372.2) c.C868T c.3306+1G>A ex9-ex18del c.3218delT 
Protein change p.290* N/A N/A p.L1073Wfs*32 
CADD score 36 34 N/A 36 
Hemoglobin (g/dL) 9.7 11.5-13.5 12.3 11.5-14.5 11.8 12.0-16.0 
WBC (103 cells/L) 9.04 5.2-11.0 20.14 5.2-11.0 3.8 4.4-8.1 
Neutrophils (103 cells/L) 0.28† >1.5 13.29 >1.5 0.76 >1.5 
Lymphocytes (103 cells/L) 4.7 2.3-5.4 3.63 2.3-5.4 2.51 1.4-3.3 
Monocytes (103 cells/L) 1.8† <1.0 2.62 <1.0 0.53 <1.0 
Platelets (103 cells/L) 423 >100 440 >100 253 >100 
Lymphocyte subsets       
 CD3+ (103 cells/L) 4.23 1.4-3.7 3.35 1.4-3.7 3.03 0.6-2.2 
 CD3+CD4+ (103 cells/L) 3.09 0.7-2.2 1.80 0.7-2.2 1.42 0.4-1.4 
  CD45RA+CCR7+CD31+ % 62.1 36.2-71.8 N/A 20.3-68.9 N/A N/A 
  Naive % 81.0 49.2-85.8 62.8 37.8-80.3 31.0 2.0-58.0 
  Effector memory % 3.9 2.8-16.9 5.25 4.0-25.5 10.0 0.7-12.0 
  Central memory % 14.9 9.6-31.9 31.69 9.9-41.1 39.0 6.0-47.0 
  Term. diff. % 0.2 0.6-4.8 0.26 0.4-7.7 N/A N/A 
 CD3+CD8+ (103 cells/L) 1.0 0.49-1.3 1.48 0.49-1.3 1.39 0.2-0.86 
  Naive % 79.3 22.8-79.9 59.6 20.3-78.2 39.0 6.0-84.0 
  Central % 4.6 0.9-11.3 29.82 1.7-13.3 15.0 1.0-18.0 
  Effector memory % 6.7 4.3-31.4 4.99 8.6-34.5 5.0 0.0-6.0 
  Term. diff % 9.4 6.8-52.7 5.58 7.0-53.8 N/A N/A 
 CD19+ (103 cells/L) 0.05 0.39-1.4 0.0 0.39-1.4 0.0 0.09-0.4 
  Recent B emigrants % 20.6 10.6-42.6 0.0 7.1-35.3 N/A N/A 
  Naive % 8.6 34.2-65.5 0.0 37.1-70.2 N/A N/A 
 CD19hiCD21lo 68.2 1.5-9.8 0.0 1.9-9.0 N/A N/A 
  Unswitched % 1.4 2.9-15.3 0.0 3.1-18.3 N/A N/A 
  Switched % 0.0 1.5-14.2 0.0 2.4-19.8 N/A N/A 
  Term. diff 0.0 0.37-15.3 0.0 0.3-11.8 N/A N/A 
 Plasma cells 0.0 0.06-4.1 0.0 0.1-2.7 N/A N/A 
 NK T (103 cells/L) 0.005 0.015-0.25 0.057 0.012-0.34 0.5 0.015-0.34 
 NK (103 cells/L) 0.44 0.13-0.72 0.26 0.13-0.72 0.17 0.1-0.5 
 DC, plasmacytoid % 0.16 0.16-0.76 N/A N/A N/A N/A 
 DC, myeloid % 0.23 0.18-0.92 N/A N/A N/A N/A 
Immunoglobulins (g/L)‡       
 IgG 0.13 4.9-16.1 0.33 5.4-16.1 3.83 6.0-16.0 
 IgA <0.01 0.4-2.0 <0.01 0.7-2.5 <0.02 0.8-2.8 
 IgM 0.08 0.5-2.0 0.14 0.5-1.8 <0.1 0.5-1.9 
 IgE kU/L <1 <33 <1 <48 <1 <48 
Tetanus vaccine titer Absent‡  N/A  N/A  
T-cell proliferation       
 CD3 Normal N/A N/A 
 CD3 + IL-2 Normal  N/A  N/A  
 PHA Normal N/A  Normal  
 Tetanus N/A  N/A  Normal  
 Candida N/A  N/A  Normal  
 Con A N/A  N/A  Normal  
 CD3 + CD2 + CD8 + IL-2 N/A  Reduced  N/A  
P1Age-matched normal valuesP2Age-matched normal valuesP3Age-matched normal values
Age at the time of evaluation, y 3  9  25  
Coordinates (hg19) Chr5 Homozygous 131042150_G>A  Homozygous 130987494_C>T  Compound heterozygous 130766131_131044371 (min interval) 130987583del 
Variant(s) (NM_133372.2) c.C868T c.3306+1G>A ex9-ex18del c.3218delT 
Protein change p.290* N/A N/A p.L1073Wfs*32 
CADD score 36 34 N/A 36 
Hemoglobin (g/dL) 9.7 11.5-13.5 12.3 11.5-14.5 11.8 12.0-16.0 
WBC (103 cells/L) 9.04 5.2-11.0 20.14 5.2-11.0 3.8 4.4-8.1 
Neutrophils (103 cells/L) 0.28† >1.5 13.29 >1.5 0.76 >1.5 
Lymphocytes (103 cells/L) 4.7 2.3-5.4 3.63 2.3-5.4 2.51 1.4-3.3 
Monocytes (103 cells/L) 1.8† <1.0 2.62 <1.0 0.53 <1.0 
Platelets (103 cells/L) 423 >100 440 >100 253 >100 
Lymphocyte subsets       
 CD3+ (103 cells/L) 4.23 1.4-3.7 3.35 1.4-3.7 3.03 0.6-2.2 
 CD3+CD4+ (103 cells/L) 3.09 0.7-2.2 1.80 0.7-2.2 1.42 0.4-1.4 
  CD45RA+CCR7+CD31+ % 62.1 36.2-71.8 N/A 20.3-68.9 N/A N/A 
  Naive % 81.0 49.2-85.8 62.8 37.8-80.3 31.0 2.0-58.0 
  Effector memory % 3.9 2.8-16.9 5.25 4.0-25.5 10.0 0.7-12.0 
  Central memory % 14.9 9.6-31.9 31.69 9.9-41.1 39.0 6.0-47.0 
  Term. diff. % 0.2 0.6-4.8 0.26 0.4-7.7 N/A N/A 
 CD3+CD8+ (103 cells/L) 1.0 0.49-1.3 1.48 0.49-1.3 1.39 0.2-0.86 
  Naive % 79.3 22.8-79.9 59.6 20.3-78.2 39.0 6.0-84.0 
  Central % 4.6 0.9-11.3 29.82 1.7-13.3 15.0 1.0-18.0 
  Effector memory % 6.7 4.3-31.4 4.99 8.6-34.5 5.0 0.0-6.0 
  Term. diff % 9.4 6.8-52.7 5.58 7.0-53.8 N/A N/A 
 CD19+ (103 cells/L) 0.05 0.39-1.4 0.0 0.39-1.4 0.0 0.09-0.4 
  Recent B emigrants % 20.6 10.6-42.6 0.0 7.1-35.3 N/A N/A 
  Naive % 8.6 34.2-65.5 0.0 37.1-70.2 N/A N/A 
 CD19hiCD21lo 68.2 1.5-9.8 0.0 1.9-9.0 N/A N/A 
  Unswitched % 1.4 2.9-15.3 0.0 3.1-18.3 N/A N/A 
  Switched % 0.0 1.5-14.2 0.0 2.4-19.8 N/A N/A 
  Term. diff 0.0 0.37-15.3 0.0 0.3-11.8 N/A N/A 
 Plasma cells 0.0 0.06-4.1 0.0 0.1-2.7 N/A N/A 
 NK T (103 cells/L) 0.005 0.015-0.25 0.057 0.012-0.34 0.5 0.015-0.34 
 NK (103 cells/L) 0.44 0.13-0.72 0.26 0.13-0.72 0.17 0.1-0.5 
 DC, plasmacytoid % 0.16 0.16-0.76 N/A N/A N/A N/A 
 DC, myeloid % 0.23 0.18-0.92 N/A N/A N/A N/A 
Immunoglobulins (g/L)‡       
 IgG 0.13 4.9-16.1 0.33 5.4-16.1 3.83 6.0-16.0 
 IgA <0.01 0.4-2.0 <0.01 0.7-2.5 <0.02 0.8-2.8 
 IgM 0.08 0.5-2.0 0.14 0.5-1.8 <0.1 0.5-1.9 
 IgE kU/L <1 <33 <1 <48 <1 <48 
Tetanus vaccine titer Absent‡  N/A  N/A  
T-cell proliferation       
 CD3 Normal N/A N/A 
 CD3 + IL-2 Normal  N/A  N/A  
 PHA Normal N/A  Normal  
 Tetanus N/A  N/A  Normal  
 Candida N/A  N/A  Normal  
 Con A N/A  N/A  Normal  
 CD3 + CD2 + CD8 + IL-2 N/A  Reduced  N/A  

CADD, combined annotation dependent depletion; Chr, chromosome; Con A, concanavalin A; DC, dendritic cell; IL-2, interleukin 2; N/A, not available; Term. diff., terminally differentiated; WBC, white blood cell.

†

Before G-CSF treatment.

‡

Before or without immunoglobulin replacement therapy.

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