IgG4 deficiency with Rothmund-Thomson syndrome: a case report.
We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.
Kubota
M
M
Department of Paediatrics, Kyoto University, Japan.
Yasunaga
M
M
Hashimoto
H
H
Kimata
H
H
Mikawa
H
H
Shinya
A
A
Nishigori
C
C
D002675:Child, Preschool; D006801:Humans; D017099:IgG Deficiency / Q000150:complications* / Q000276:immunology; D007074:Immunoglobulin G / Q000096:biosynthesis / Q000097:blood; D007963:Leukocytes, Mononuclear; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000276:immunology
D007074:Immunoglobulin G