[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration].
Whim syndrome, an association of warts, hypogammaglobulinemia, recurrent bacterial infections and the retention of mature polymorphonuclear cells within the bone marrow is an orphan disease. It occurs due to a complex immune defect, mutation and/ or dysfunction of CXCR4, the natural receptor of stromal cell-derived factor 1 [SDF-1 or CXCL12], which is implicated in the control of bone marrow homing of precursor cells and lymphocyte trafficking. Recently described, this poorly recognized immune defect is often inherited as an autosomal dominant trait and is responsible for multiple respiratory infectious events and the development of extensive HPV-induced warts. We report the case of a 36 year old man, who had been under follow up for many years because of diffuse bronchiectasis, with frequent pulmonary infections and progressive lung function deterioration. Late identification of a CXCR4 gene mutation led to a better understanding of the pathophysiology of his condition, allowing the discussion of future therapeutic strategies and finally to test relatives for similar mutations.
Service de Pneumologie, Centre Hospitalier Lyon Sud, HCL, Lyon, France.
H
H
Vinurel
N
N
Freymond
Y
Y
Pacheco
G
G
Devouassoux
D000328:Adult; D000361:Agammaglobulinemia; D001424:Bacterial Infections; D001854:Bone Marrow Cells / Q000473:pathology; D001987:Bronchiectasis / Q000209:etiology*; D006801:Humans; D008171:Lung Diseases / Q000382:microbiology*; D008297:Male; D009154:Mutation; D009504:Neutrophils; D019718:Receptors, CXCR4 / Q000235:genetics*; D012008:Recurrence; D013577:Syndrome; D014860:Warts
C527276:CXCR4 protein, human; D019718:Receptors, CXCR4