|
S Kashef,1 M Mehdi
Ghaedian,2 N Rezaei,3,4 Z
Karamizadeh,5 A Aghamohammadi,5 A
Durandy,6 Q Pan-Hammarstrom,7 L
Hammarstrom7 |
|
1Allergy Research Center, Department
of Pediatrics, Division of Immunology and Allergy,
Namazi Hospital, Shiraz University of Medical Sciences,
Shiraz, Iran
2Department of Medicine, Shiraz University of Medical
Sciences, Shiraz, Iran
3Growth and Development Research Center, Tehran
University of Medical Sciences, Tehran, Iran
4Center of Excellence for Pediatrics, Childrens Medical
Center, Tehran University of Medical Sciences, Tehran,
Iran
5Growth and Development Research Center, Tehran
University of Medical Sciences, Tehran, Iran
6Institut National de la Santé et de la Recherche
Médicale, Hopital Necker-Enfants Malades, Paris, France
7Division of Clinical Immunology, Department of
Laboratory Medicine, Karolinska Institute at the
Karolinska Universik Hospital, Stockholm, Sweden |
|
Abstract |
|
Growth hormone
deficiency (GHD) may
be associated with a
number of
immunodeficiency
diseases, but its
association with
immunoglobulin class
switch recombination
(Ig CSR)
deficiencies is very
rare.
We report the case
of a patient with a
history of recurrent
diarrhea and
respiratory
infections diagnosed
with hyper IgM
syndrome on the
basis of
immunological
findings (low serum
levels of IgG and
IgA and an elevated
serum level of IgM).
In view of the
patients short
stature, growth
hormone evaluation
was performed and
growth hormone
deficiency confirmed.
The patient received
growth hormone
therapy in addition
to Ig replacement
therapy and
antibiotics and
responded well.
As the coding
regions of the genes
known to be
responsible for Ig
CSR (CD40L, CD40,
AICDA, and UNG) were
intact in our
patient, this might
be a new form of Ig
CSR deficiency.
Key words:
Class switch
recombination.
Growth hormone
deficiency. Hyper-IgM
syndrome.
|
|
|
|
| |
|
|
