Journal of Clinical Immunology

, Volume 35, Issue 3, pp 249–253 | Cite as

Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred

  • Taha Moussa
  • Buthaina Aladbe
  • Rowaida Z. Taha
  • Elaine F. Remmers
  • Hatem El-Shanti
  • Basil M FathallaEmail author
Astute Clinician Report


Hyperimmunoglobulinemia D Syndrome (HIDS) has rarely been reported in Arabs. Moreover, the simultaneous presence of mutations in MEFV and MVK segregating in the same family is exceptional. We report an Arabic girl presenting since the age of 8-years with two patterns of recurrent episodes of fever, and associated with a spectrum of clinical features suggestive of overlap between familial Mediterranean fever (FMF) and HIDS. Her 19-year old brother presented since the age of 1 year with prolonged episodes of fever and was diagnosed with HIDS at the age of 7 years based on clinical features and homozygosity for p.V377I mutation in MVK. Shorter episodes of fever and abdominal pain more consistent with FMF ensued since the age of 17 years. Genetic testing done for both patients and all other family members revealed simultaneous presence of mutations in MEFV and MVK but with a variable clinical spectrum ranging from asymptomatic to severe manifestations. Both of our patients are homozygous for p.V377I MVK mutation; the girl is a compound heterozygote for p.E148Q/p.P369S/p.R408G and p.E167D/p.F479L MEFV mutations whereas the brother is a compound heterozygote for p.E148Q/p.P369S/p.R408G and p.M680I MEFV mutations. The clinical implications of having more than one mutation in different genes of monogenic autoinflammatory diseases in the same individual are not clear but may explain atypical clinical manifestations such as the overlap features of both FMF and HIDS in this family.


Autoinflammatory disorders familial Mediterranean fever hyperimmunoglobulinemia D syndrome 



This work is funded in part by Hamad Medical Corporation / Medical research committee approval 13438/13 and 12168/12 (BF) and Qatar National Research Fund (QNRF), Grant # NPRP 09-374-3-092 (HE, RZT)


Nothing to disclose.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Taha Moussa
    • 1
  • Buthaina Aladbe
    • 2
    • 3
  • Rowaida Z. Taha
    • 4
  • Elaine F. Remmers
    • 5
  • Hatem El-Shanti
    • 6
    • 7
  • Basil M Fathalla
    • 8
    • 9
    Email author
  1. 1.Department of PediatricsHamad General HospitalDohaQatar
  2. 2.Section of Pediatric Rheumatology, Department of PediatricsHamad General HospitalDohaQatar
  3. 3.Hospital for Sick ChildrenTorontoCanada
  4. 4.Qatar Biomedical Research InstituteMedical Genetics CenterDohaQatar
  5. 5.National Human Genome Research InstituteNational Institutes of HealthBethesdaUSA
  6. 6.Qatar Biomedical Research InstituteMedical Genetics CenterDohaQatar
  7. 7.Department of PediatricsUniversity of IowaIowa CityUSA
  8. 8.Section of Pediatric Rheumatology, Department of PediatricsHamad General HospitalDohaQatar
  9. 9.Department of PediatricsWeill Cornell Medical College-QatarDohaQatar

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