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Current Rheumatology Reports|May 25, 2015
Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory diseaseHella Luksch, Stefan Winkler, Michael C Heymann, et al.
The Journal of Rheumatology|December 1, 2004
Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosisTilmann Kallinich, Sonia Briese, Joachim Roesler, et al.
Clinical Immunology (Orlando, Fla.)|March 26, 2013
Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutationFabian Hauck, Aude Magerus-Chatinet, Stephanie Vicca, et al.
Blood|October 24, 2002
Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantationUrsula Reuter, Joachim Roesler, Christian Thiede, et al.
Journal of Pediatric Hematology/Oncology|January 10, 2009
Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related casesFabian Hauck, Sabine Heine, Rita Beier, et al.
Blood|May 5, 2005
Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one alleleJoachim Roesler, Jose-Maria Izquierdo, Martin Ryser, et al.
Blood|October 24, 2002
Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous diseaseJoachim Roesler, Sebastian Brenner, Anatoly A Bukovsky, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 2, 2005
Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, GermanyJoachim Roesler, Anett Thürigen, Liping Sun, et al.
The Pediatric Infectious Disease Journal|March 5, 2003
Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous diseaseSvea Sallmann, Antje Heilmann, Frank Heinke, et al.
Clinical Immunology (Orlando, Fla.)|December 31, 2003
Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivationMindy Anderson-Cohen, Steve M Holland, Doug B Kuhns, et al.
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