Intermittent chronic neutropenia in a patient with familial Mediterranean fever.
A 12-year-old daughter of consanguineous Moroccan parents was diagnosed with cyclic neutropenia, based on a combination of recurrent gingivostomatitis, a fluctuating neutrophil count, and several episodes of severe neutropenia. No ELA2 gene mutations were found. At age 19 years she presented with edema of the limbs, proteinuria and renal failure. Renal amyloidosis AA was diagnosed by biopsy. Gene mutations associated with family Mediterranean fever (FMF) were sought, and a homozygous mutation (M694V) was found in the MFEV gene. This is the novel finding of FMF that masqueraded as cyclic neutropenia.
Ganiou Tidjani
K
K
Service de Pédiatrie 1 Unité d'Immunologie Clinique, CHU Ibn Rochd, Casablanca, Morocco.
Ailal
F
F
Najib
J
J
Bellanné-Chantelot
C
C
Donadieu
J
J
Bousfiha
A A
AA
D000328:Adult; D000686:Amyloidosis / Q000235:genetics; D002648:Child; D002908:Chronic Disease; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005334:Fever / Q000235:genetics; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000473:pathology*; D000071198:Pyrin; D013283:Stomatitis, Herpetic / Q000235:genetics
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin