Document Detail

Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
MedLine Citation:
PMID:  22476911     Owner:  NLM     Status:  MEDLINE    
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and recurrent respiratory or gastrointestinal tract infections. However, four patients presented with other features. Patient 1-1 featured sclerosing cholangitis and colitis; patient 2-1, granulomatous soft tissue lesion and central nervous system involvement, with primary central nervous system lymphoma found on follow-up; patient 3-1, a fatal metastatic leiomyosarcoma; and patient 4-2 showed no other symptoms initially besides atopic dermatitis. Similar to other previously reported Turkish patients, but in contrast to patients of non-Turkish ethnicity, the patients' lymphopenia was primarily restricted to CD4(+) T cells. Patients had homozygous mutations in DOCK8 that altered splicing, introduced premature terminations, destabilized protein, or involved large deletions within the gene. Genotyping of remaining family members showed that DOCK8 deficiency is a fully penetrant, autosomal recessive disease. In our patients, bone marrow transplantation resulted in rapid improvement followed by disappearance of viral skin lesions, including lesions resembling epidermodysplasia verruciformis, atopic dermatitis, and recurrent infections. Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment.
Ozden Sanal; Huie Jing; Tuba Ozgur; Deniz Ayvaz; Dara M Strauss-Albee; Sibel Ersoy-Evans; Ilhan Tezcan; Gulten Turkkani; Helen F Matthews; Goknur Haliloglu; Aysel Yuce; Bilgehan Yalcin; Ozay Gokoz; Kader K Oguz; Helen C Su
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Intramural     Date:  2012-04-04
Journal Detail:
Title:  Journal of clinical immunology     Volume:  32     ISSN:  1573-2592     ISO Abbreviation:  J. Clin. Immunol.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-07-04     Completed Date:  2013-01-22     Revised Date:  2013-08-14    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  698-708     Citation Subset:  IM    
Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey.
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MeSH Terms
Bone Marrow Transplantation
CD4-Positive T-Lymphocytes / immunology*
Child, Preschool
Dermatitis, Atopic / genetics
Guanine Nucleotide Exchange Factors / deficiency*,  genetics*
Immunoglobulins, Intravenous / therapeutic use
Lymphopenia / genetics,  therapy
Sequence Deletion
Severe Combined Immunodeficiency / genetics*,  immunology,  therapy
Grant Support
Reg. No./Substance:
0/DOCK8 protein, human; 0/Guanine Nucleotide Exchange Factors; 0/Immunoglobulins, Intravenous

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