Hoyeraal-Hreidarsson syndrome represents a severe variant of dyskeratosis congenita (Zinsser-Cole-Engman syndrome). This X-linked recessive, progressive, multisystemic disorder reported so far in 12 pedigrees is characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, mental retardation, progressive combined immune deficiency and aplastic anaemia. Mutations in the DKC1gene on Xq28 have been identified in the X-linked form of dyskeratosis congenita and in some Hoyeraal-Hreidarsson syndrome patients. We report on two sibs and two other unrelated patients with the striking clinical features of Hoyeraal-Hreidarsson syndrome. Noticeably, all four had early digestive problems, with chronic, bloody diarrhoea and feeding problems causing one of the most difficult problems in the supportive treatment of this uniformly lethal condition. Pathological changes in the proliferative compartment of the digestive mucosa included alterations of the glandular architecture and focal rarefaction of the glands. This aspect seems consistent with altered telomerase function associated with a dyskerin mutation which may decrease the proliferative capacity of digestive epithelial cells. A missense mutation 146 C-->T (Thr49Met) in the DKC1gene was found in two unrelated patients, whereas mutation screening was negative for one single case. The absence of mutations of the DKC1gene in patients with Hoyeraal-Hreidarsson syndrome emphasises the probable implication of one or more other loci.

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Inflammatory bowel diseases have an increased risk of infections due to immunosuppressive therapies. To report the immunization status according to previous recommendations and the reasons explaining a delay, a questionnaire was filled in by the pediatric gastroenterologist, concerning outpatients, in six tertiary centers and five local hospitals, in a study, from May to November 2011. One hundred and sixty-five questionnaires were collected, of which 106 Crohn's diseases, 41 ulcerative colitis, and 17 indeterminate colitis. Sex ratio was 87:78 M/F. Median age was 14.4 years old (4.2-20.0). One hundred and nine patients (66 %) were receiving or had received an immunosuppressive therapy (azathioprine, infliximab, methotrexate, or prednisone). Vaccines were up to date according to the vaccine schedule of French recommendations in 24 % of cases and according to the recommendations for inflammatory bowel disease in 4 % of cases. Coverage by vaccine was the following: diphtheria-tetanus-poliomyelitis 87 %, hepatitis B 38 %, pneumococcus 32 %, and influenza 22 %. Immunization delay causes were as follows: absence of proposal 58 %, patient refusal 41 %, fear of side effects 33 %, and fear of disease activation 5 %. Therefore, immunization coverage is insufficient in children with inflammatory bowel disease, due to simple omission or to refusal. A collaboration with the attending physicians and a targeted information are necessary.

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