Document Detail

B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.
MedLine Citation:
PMID:  18839211     Owner:  NLM     Status:  MEDLINE    
We report on two brothers with hyperimmunoglobulinemia D (patient 1: serum immunoglobulin D [IgD] concentration initially 61 IU/ml, later on 340 IU/ml; patient 2: serum IgD concentration 144 IU/ml; normal <100 IU/ml, 97th centile) and periodic fever syndrome (HIDS). Both are compound heterozygous for the mevalonate kinase (MVK) mutations V377I and I268T. They developed significant B cell cytopenia (7%, 129/microl and 11%, 132/microl, respectively; normal ranges 12-22%, 300-500/microl) with hypogammaglobulinemia (IgG 5.48 g/l and IgG 5.22 g/l, respectively; normal range IgG 6-13 g/l). Furthermore, the clinical spectrum shows an interesting atypical autoinflammatory symptomatology. The therapy consisted of prednisone, azathioprine, and intravenous immunoglobulins (IVIG), which results in reduced incidence and severity of febrile attacks. Conclusion: The pathogenesis and clinical presentation of HIDS is still not fully understood and show a great variability. To our knowledge, severe B cell cytopenia in children with HIDS has not been reported before. Furthermore, the therapy of febrile episodes is still performed on an individual basis in affected patients.
M Sornsakrin; K Wenner; R Ganschow
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-10-07
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-05-14     Completed Date:  2009-08-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  825-31     Citation Subset:  IM    
Department of Pediatrics, Division of Pediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
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MeSH Terms
Agammaglobulinemia / blood
Azathioprine / therapeutic use
Fever* / blood,  drug therapy,  genetics
Glucocorticoids / therapeutic use
Immunoglobulin D / blood*
Immunoglobulins, Intravenous / therapeutic use
Immunologic Factors / therapeutic use
Immunosuppressive Agents / therapeutic use
Lymphopenia* / blood,  drug therapy,  genetics,  physiopathology
Mevalonate Kinase Deficiency* / blood,  drug therapy,  genetics,  physiopathology
Phosphotransferases (Alcohol Group Acceptor) / deficiency*,  genetics
Prednisone / therapeutic use
Reg. No./Substance:
0/Glucocorticoids; 0/Immunoglobulin D; 0/Immunoglobulins, Intravenous; 0/Immunologic Factors; 0/Immunosuppressive Agents; 446-86-6/Azathioprine; 53-03-2/Prednisone; EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor); EC kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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