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Table 1 General information of STAT3 mutation patients

From: The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations

  P1 P2 P3 P4 P5 P6 P7 P8 P9 P10 P11 P12
Gender Male Male Female Female Male Female Male Male Male Female Male Female
Age at symptom onset (year) Neonate 11.5 1 1.5 0.3 0.3 Neonate Neonate 5 Neonate Neonate 13
Age on clinical diagnosis (year) 10 12 4.5 2.25 1.3 1.25 10 0.5 6 3.5 0.83 14
Mutation of STAT3             
cDNA 1863C>G 1311C>G 1144C>T 1145G>C 1826G>C 1144C>T 1827A>T 1144C>T 1311C>G 1909G>A 994C>A 1261G>A
Amino acid F621L H437Q R382W R382P R609T R382W R609S R382W H437Q V637M H332N G421R
Type De novo De novo De novo De novo De novo De novo De novo De novo De novo De novo Paternal De novo
Immunological abnormalities             
Fever + + + + + + + + +
Eczema + + + + + + + + + + +
Respiratory infection + + + + + + + + + + + +
Skin and pulmonary abscess + + + + + +
Otitis media + + + + + +
Thrush + + + + + +
Diarrhea + + +
Enlarged lymph nodes + + + + +
Hepatosplenomegaly + +
Non-immunological abnormalities             
Failure to growth + + +
Skeletal abnormalities + +
Retention of primary teeth + + +
Facial features + + +
Other presentations RDS, Fatty liver     Cryptorchidism, Laryngeal cleft, Fissured tongue Dysfunction of liver, Pityriasis rubra pilaris, Congenital laryngeal cartilage dysplasia; CMV infection Dysfunction of liver, Leukoma, EBV infection ASD, Vaccinated scar, CMV infection, Agranulocytosis, Respiratory Failure, Dysfunction of liver Fungal infection, Cavernous hemangioma, Cryptorchidism, Leukopenia, Laryngotracheal stenosis Rhinitis, EBV infection Cholestasis Rhinitis, Autoimmune hemolytic anemia, Myasthenia, Diabetes, Alopecia, Delayed pubertal development, EBV infection
NIH scores 53 47 62 49 61 41 62 27 40 45 21 ND
Eosinophils (/μl) 780 5860 689 720 2650 4000 1350 589 220 470 570 10
  1. ND Not determined, RDS respiratory distress syndrome, ASD atrial septal defect, CMV cytomegalovirus, EBV Epstein–Barr virus