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Table 1 Hematological and immunological evaluation, phenotype and mutations in G6PC3 patients

From: Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

   Patient
   1 2
  Eth Italian Turkish (consanguinous)
  Sex F M
  Current age (years) 20 3
  Infections prior to G-CSF therapy Skin, pulmonary and brain abscess byS. Aureus Otitis, parotitis,S. Viridanssepsis,S. Aureusgluteal abscess, recurrent aphtous stomatitis
Blood cells count White blood cells ^ (4.5-17) 6,6 2,7
Neutrophils ^ (1.5-6.0 × 109/L) 0,22 0,06
Lymphocytes ^ (1.3-8.5 × 109/L) 2,9 1,9
Monocytes ^ (0.1-1.0 × 109/L 3,4 0,7
Platelet count ^ (150-450 cells/uL) 610 347
  Intermittent thrombocytopenia Yes (range 46-158 cells/uL) No
Serum Immunoglobulin concentrations IgG (mg/dL) 1.240 (231-947) 974 (462-1710)
IgA (mg/dl) 54 (8-74) 64 (27-173)
IgM (mg/dl) 79 (26-210) 118 (62-257)
IgE (kU/L) (n.v. < 95) 3 7
Lymphocyte subset (cells/uL) CD3+ (770-1880) 720 1287
CD3 + CD4+ ( 470-1240) 373 805
CD3 + CD8+ (215-730) 318 426
CD19+ (100-390) 218 460
CD16+ (70-550) 69 79
CD11b (PMN) 98% N.D.
CD18+ (PMN) 100% N.D
  Extra haematological features Facial dysmorphisms, Facial dysmorphisms,
  mitral valve prolapse, prominent veins,
  prominent veins, sensorineural hearing loss,
  ligamentous laxity, micropenis, coronal ipospadia.
  inguinal hernia,  
  delayed puberty,  
  hypergonadotrophic hypogonadism  
  G6PC3 c.144C>A/c.373_375delAAT c.680_684delinsT/ c.680_684delinsT
  Mutation p.Y48*/ p.I125del p.S227Lfs*3/ p.S227Lfs*3
  1. ^ prior to G-CSF therapy.
  2. NA: not available.
  3. Immunoglobulins normal value for age are reported in brackets.