proliferative responses, progressive CD4 T-cell depletion andan increase in CD38 and HLA DR expression on his CD8 cellswith downregulation of CD28 expression. He remainsasymptomatic, despite anemia, thrombocytopenia, andsevere leukopenia requiring chronic use of Filgrastin. Thiscase documents in detail the sequential changes in immunefunction and phenotype, the progressive bone marrowfailure, as well as the very long-term clinical managementof a patient with Good’s syndrome.

doi:10.1016/j.clim.2006.04.325

Sa.94. V61Q Mutation Supports Partial IFN-GammaReceptor 1 Function.Gulbu Uzel,1 Smita Patel,1 John Routes,2 StevenHolland.1 1Lab of Clinical Infectious Diseases, NIH/NIAID,BETHESDA, MD; 2University of Colorado Health SciencesCenter, National Jewish Medical Research Center, Denver,CO.

Interferon g receptor 1 (IFNgR1) deficiency is causedby allelic dominant and recessive mutations and predis-poses to mycobacterial infections. Complete recessivedeficiency is clinically severe with disseminated infection.Partial deficiencies are milder with more localizeddisease and partial response to interferon gamma (IFNg).We recently identified a compound heterozygous man(561del4 and V61Q) who had features of partial IFNgR1deficiency. The patient is a 29-year-old Caucasian manwith a 15-year history of multifocal osteomyelitis causedby M. avium. His present infection was refractory toantimycobacterial therapy. There were no detectablemolecules of IFNgR1 on the surface of cells by FACSusing mAb GZ224 (R&D). Mononuclear cell TNFa produc-tion in response to IFNg stimulation was 28% of control.IFNg induced STAT-1 phosphorylation was 42% of controlbut showed a modest dose response to escalatingconcentrations of IFNg. IFNg was added to his antimyco-bacterial therapy with a remarkable improvement. Twomutations were found: 561del4 (exon 5), which results ina frame shift and encodes a protein that does notexpress the intracellular and transmembrane domains,rendering it nonfunctional; T182G (exon 2) results inV61Q, although expressed on the cell surface, waspreviously described as not supporting IFNg signaling.However, in the previous case, the V61Q allele wasexpressed along with the 652del3 (delQ218) allele. V61Qmust encode a protein able to mediate IFNgR1 responses.These in vitro studies, our patient’s clinical course andpresentation (mycobacterial osteomyelitis, survival to 3rddecade, response to IFNg) support the conclusion thatthe V61Q mutation alters antibody recognition of thereceptor and causes diminished, but not absent function.Therefore, V61Q is a recessive partial IFNgR1 deficiency,similar in presentation and response to the dominantpartial forms of deficiency.

doi:10.1016/j.clim.2006.04.326

Sa.95. Longterm Survival and Pegylated AdenosineDeaminase (ADA) Therapy in a Patient with ADADeficiency.Robert Nelson,1 Jamie Shmalo,2 David Williams,3

Michael Hershfield.4 1Internal Medicine, Division ofHematology/Oncology, Hematology Malignancy Program andStem Cell Transplantation, Indiana University School ofMedicine, Indianapolis, IN; 2Pediatrics, Indiana UniversitySchool of Medicine, Indianapolis, IN; 3ExperimentalHematology, Cincinatti Hospital for Children, Cincinnatti,OH; 4Medicine, Division of Rheumatology, Duke UniversitySchool of Medicine, Durham, NC.

R.G presented with a history of recurrent otitis mediaand was hospitalized with severe varicella at the age of 6months. At 18 months of age, she experienced transientneutropenia associated with anti-neutrophil antibodies,which resolved spontaneously at the age of 25 months. Ayounger sibling was born and experienced failure tothrive, severe infections and hepatoblastoma. ADA-defi-ciency was first established in the younger sibling andthen then in RG at age 39 months. RG developeddermatofibrosarcoma protuberans of the anterior abdome-nal wall at 40 months of age. Intravenous immunoglobulin(500 mg/kg/month) was initiated at 44 months of age andgiven regularly through age 9 years. Pegylated ADA(Adagen, Enzon Pharmaceuticals, Bridgewater, NJ) wasbegun at age 45 months at a dose of 30 units/kg/weekgiven subcutaneously by the mother at home. ADA anddeoxynucleotide levels were monitored and dosing adjust-ed to provide normal levels. Lymphocyte numbers, sub-populations and function normalized. She experienced alocal recurrence of dermatofibrosarcoma protuberans,which was resected at 49 months of life. The tumorrecurred yet again at age 17 and was resected. Shecontinues to thrive with biweekly pegylated ADA. Periodicassessment of adenosine deaminase and deoxynucleotidelevels continue to guide dosing. Humoral and cellularimmunologicial functions have been normal since disconti-nuing IVIG at 9 years of age. Conclusion: Pegylated ADA isassociated with normalization of laboratory abnormatlitiesand in this single case, has been tolerated for approx-imatley 15 years. Immunological correction does notappear to prevent recurrence of Dermatofibosarcoma.

doi:10.1016/j.clim.2006.04.327

Sa.96. Mutational Analysis of the Pre-BCRComponents in 22 Italian Patients with AutosomalRecessive Agammaglobulinemia: Novel DiseaseCausing Mutations in the mu Heavy Chain Gene andNovel Variants in Both the mu Heavy Chain and E5Genes.Vassilios Lougaris,1 Simona Ferrari,2 Annarosa Soresina,1

Roberta Zuntini,2 Vladimira Sourkova,2 Cesare Rossi,2

Alessandro Plebani,1 AIEOP Italian Network on PIDs.11Department of Pediatrics, University of Brescia, Brescia,Italy; 2Medical Genetics Lab, S.Orsola-Malpighi UniversityHospital, Bologna, Italy.

AbstractsS138