{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:23:59Z","timestamp":1790979839473,"version":"4.1.0"},"reference-count":28,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,3,1]]},"abstract":"<jats:p>We report a new complex syndrome involving profound failure to thrive with severe intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of B lymphocyte development, and secondary, progressive marrow aplasia. B cell differentiation was found to be blocked at the pro-B cell stage. Although not strictly proven, a genetic origin is likely, according to similar cases reported in the literature.<\/jats:p>\n               <jats:p>Three candidate genes, PAX5, encoding B cell-specific activator protein, a factor involved in B cell lineage commitment, stromal cell-derived factor 1, and CXCR4, encoding a chemokine and its receptor, respectively, were thought to be responsible for this disease, given the similarity between the phenotype of the corresponding knock-out mice and the clinical features of the patient. However, the genomic DNA sequences of these 3 genes were normal, and normal amounts of stromal cell-derived factor 1 and CXCR4 were present.<\/jats:p>\n               <jats:p>These data strongly suggest that another molecule is involved in early B cell differentiation, hematopoiesis, and cerebellar development in humans.<\/jats:p>","DOI":"10.1542\/peds.105.3.e39","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:50:41Z","timestamp":1092441041000},"page":"e39-e39","source":"Crossref","is-referenced-by-count":29,"title":["A Syndrome Involving Intrauterine Growth Retardation, Microcephaly, Cerebellar Hypoplasia, B Lymphocyte Deficiency, and Progressive Pancytopenia"],"prefix":"10.1542","volume":"105","author":[{"given":"Patrick","family":"Revy","sequence":"first","affiliation":[{"name":"From the INSERM U429, Ho\u0302pital Necker-Enfants-Malades, Paris;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meinrad","family":"Busslinger","sequence":"additional","affiliation":[{"name":"Research Institute of Molecular Biology, Vienna, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Tashiro","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology and Genetics, Kyoto University, Sakyo-Ku, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Arenzana","sequence":"additional","affiliation":[{"name":"Institut Pasteur, Paris, France; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Pillet","sequence":"additional","affiliation":[{"name":"CHU de Bordeaux, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fischer","sequence":"additional","affiliation":[{"name":"From the INSERM U429, Ho\u0302pital Necker-Enfants-Malades, 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