TABLE 1

Summary of Clinical Findings and Comparison With Patients Reported by Van Esch et al10

No. of Patients With Symptom/Total No. in GroupThis Report, n/N (%)Van Esch et al10 Report, n/N (%)
K8210K8300K8315K9227K9228K9244
Severe mental retardation5/55/53/35/53/32/223/23 (100)12/12 (100)
Microcephaly0/51/30/31/50/30/22/21 (10)2/10 (20)
Hypotonia5/50/23/34/53/32/217/20 (85)NR
Facial hypotonia5/50/20/30/11/31/27/16 (44)11/11 (100)
Small mouth0/52/50/30/12/30/24/18 (21)NR
Excessive drooling3/50/23/31/12/32/210/15 (69)NR
Gastrointestinal reflux5/50/23/31/12/32/213/16 (81)NR
Swallowing dysfunction5/50/23/31/13/32/214/16 (88)NR
Absent speech4/41/23/35/53/32/218/19 (95)10/12 (83)
Limited speech0/41/20/30/50/30/21/19 (5)2/12 (17)
Never walked2/31/30/34/50/30/27/19 (37)7/12 (58)
Limited ambulation1/32/33/31/53/32/212/19 (63)5/12 (42)
Spasticitya1/11/13/30/32/27/10 (70)9/9 (100)
Seizures2/54/53/33/51/32/215/23 (65)4/9 (44)
Severe and recurrent infections5/54/53/35/53/32/222/23 (96)5/9 (56)
IgA deficiency0/21/21/1b0/12/20/2b4/10 (40)NR
Death at <25 y of age3/5c4/5d1/3e4/5f0/3g0/212/23 (52)6/11 (55)
  • NR indicates not reported.

  • a Appears in later childhood or teen years.

  • b One with decreased IgM.

  • c Two alive at ages 14 and 17 years.

  • d One alive at age 15 years.

  • e Two alive at age 17 years.

  • f One alive at age 14 years.

  • g Three alive at age 3, 5, and 13 years.