B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.
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.


CONCLUSIONS
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.
Sornsakrin
M
M
Department of Pediatrics, Division of Pediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Wenner
K
K
Ganschow
R
R
D000361:Agammaglobulinemia / Q000097:blood; D001379:Azathioprine / Q000627:therapeutic use; D001402:B-Lymphocytes; D002648:Child; D005334:Fever / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D005938:Glucocorticoids / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D007072:Immunoglobulin D / Q000097:blood*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D008231:Lymphopenia / Q000097:blood / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000097:blood / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D010507:Periodicity; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics; D011241:Prednisone / Q000627:therapeutic use; D035781:Siblings; D013577:Syndrome
D005938:Glucocorticoids; D007072:Immunoglobulin D; D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; D007166:Immunosuppressive Agents; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D001379:Azathioprine; D011241:Prednisone