Successful treatment of DOCK8 hyper IgE syndrome by haematopoetic stem cell transplantation

Ref ID: 18544

Author:

H. Boztug (1), C. Karitnig-Weiß (2), B. Ausserer (2), E. Renner
(3), M. Albert (3), J. Sawalle-Belohradsky (3), G. Mann (1),
C. Peters (1), A. Lawitschka (1), S. Matthes-Martin (1)

Author address:

(1)St. Anna Kinderspital (Vienna, AT); (2)Krankenhaus Dornbirn
(Dornbirn, AT); (3)Dr. von Haunersches Kinderspital, LMU
(Munich, DE)

Full conference title:

Annual Meeting of the EBMT, 38th

Abstract:

Hyper IgE Syndrome (HIES) constitute a rare subset of immunodefi ciencies collectively characterized by a trias of increased
serum IgE levels, eczematous rash and recurrent skin and
pulmonary infections. Autosomal recessive HIES has been
found to be associated with mutations of DOCK8. Hitherto, few
reports have been published on patients with DOCK8 HIES
treated with hematopoetic stem cell transplantation (HSCT).
We report about a girl born to non-consanguineous parents who
presented with a severe generalized refractory eczema beginning in the fi rst month of life, multiple food allergies, recurrent
sinopulmonary infections, chronic mollusca contagiosa and a
chronic HSV1 infection of the eye. Extremely high IgE levels of
> 30.000 IU/ml and high values for absolute eosinophils were
found. A homozygous mutation in DOCK8 (c.850_851delCT;
p.L284fsX292) was identifi ed. Examinations before HSCT
revealed a solitary lung nodule. Histology and culture after
surgical resection showed aspergillus fumigatus. Following a
reduced intensity conditioning regimen consisting of fl udarabine, thiotepa, melphalan and ATG the child received bone
marrow stem cells (4,05×10
6
/kg CD34+) from a 10/10 matched
HLA identical unrelated donor at the age of 3 years. Immunosupression included cyclosporin and mycofenolatmofetil (until
day +30). Engraftment with absolute neutrophil counts > 500/μl
occurred on day +19. Transplant complications included acute
skin GvHD grade II at day + 26 which responded well to systemic steroids as well as a CMV pneumonitis 4 weeks after SCT
which was treated with ganciclovir. Soon after transplantation,
the eczematous rash and the HSV 1 infection of the eye disappeared, while the chronic mollusca contagiosa infection persisted for several months. Peripheral blood consistently showed
>99% donor chimerism in all cell subsets. Cyclosporine was
discontinued at day +180. Six months after transplantation
the child is in very good health without signs of infection. The
skin appears almost unremarkable with only small remnants
of molluscum lesions. Food allergies nearly completely disappeared. IgE levels and absolute numbers of eosinophils have
normalized.
In conclusion, we have shown in a patient that DOCK8 hyper
IgE syndrome can be treated successfully with HSCT. To more
comprehensively evaluate the risk and benefi t of HSCT in
DOCK8 defi ciency a study including HSCT centers worldwide
is underway registered at the European Society of Immunode-
fi ciencies (ESID)

Abstract Number: O333

Conference Year: 2012

Link to conference website: NULL

New link: NULL


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