Our objective was to recognize the association of autoimmune disease (AD) in patients with myelodysplastic syndromes (MDS) and understand how this association could affect prognosis and management of both diseases. We describe our cohort of 10 patients and 34 patients reported in the English literature in addition to ten cohort studies. Interestingly, four cases showed improvement in AD after 5-azacitidine treatment. The mechanism(s) of the association between AD and MDS are discussed. Treatment could be targeted against AD, MDS or both, though based on recent reports, treating MDS with hypomethylating agents alone could improve the associated AD.

We initially described the WHIM syndrome based on the combination of Warts, Hypogammaglobulinaemia, Infections and Myelokathexis (neutrophil retention in the bone marrow). Translational research led to the discovery that this rare immunodeficiency disease is caused by a heterozygous mutation in the CXCR4 gene. Recently, Plerixafor has been suggested as a treatment for WHIM syndrome due to its efficacy as a CXCR4 antagonist, closing the translational research loop. In this review, we will focus on the clinical manifestations, pathophysiology, diagnosis and possible therapies for this rare entity.

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Myelodysplastic syndrome; autoimmune disease; regulatroy T-cellsApproximately 10-20% of myelodysplastic syndromes (MDS) are associated with an autoimmune disease (AID) (1) and recent data suggest T-cell abnormalities are involved in both diseases' pathology (2,3). We therefore asked whether treating the MDS will influence the AID.A 44-year old man developed a maculopapular rash and arthritic pain in the small joints of his hands. Workup revealed systemic lupus erythematosus (SLE) based on positive antinuclear antibodies (ANA), anti-double-stranded DNA antibodies, arthritis and a skin biopsy. The patient's blood counts were within normal limits at the time. He was started on prednisone and hydroxychloroquine. After a few weeks he started to feel short of breath and was found to be anemic and leukopenic. Hydroxycholoroquine was discontinued without improvement of his blood counts. Anemia workup was negative and bone marrow evaluation revealed MDS with marked partial collagen fibrosis, 5% blasts, an average cellularity of 40% and a normal male karyotype. Concomitantly, the patient developed new neurological symptoms consisting of depression, tremors and eventually stroke-like syndrome. Due to his positive family history and positive genetic testing he was diagnosed with Huntington disease. He was followed periodically for two years and remained transfusion independent. His rash and arthritic complaints were stable. A repeat bone

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