The long quest for neonatal screening for severe combined immunodeficiency.
J. Allergy Clin. Immunol., Mar;129(3):597-604; quiz 605-6 (2012)
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Proc. Natl. Acad. Sci. U.S.A., Jun;109(26):10456-61 (2012)
Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency.
J. Allergy Clin. Immunol., Aug;120(2):423-8 (2007)
Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras.
Blood., Aug;114(7):1445-53 (2009)
Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis.
J. Pediatr., Dec;155(6):834-840.e1 (2009)
Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes.
Immunol. Res., Apr;49(1-3):25-43 (2011)
The long and the short of telomeres in bone marrow recipient SCID patients.
Immunol. Res., Apr;49(1-3):44-8 (2011)
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution.
Annu. Rev. Immunol., 22:625-55 (2004)
Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.
J. Allergy Clin. Immunol., Apr;113(4):734-41 (2004)
A historical review of bone marrow transplantation for immunodeficiencies.
J. Allergy Clin. Immunol., Apr;113(4):793-800 (2004)
Variable phenotypic expression of mutations in genes of the immune system.
J. Clin. Invest., Nov;115(11):2974-6 (2005)
Primary immunodeficiency or not? Making the correct diagnosis.
J. Allergy Clin. Immunol., Apr;117(4):756-8 (2006)
T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.
Blood., Apr;109(8):3198-206 (2007)
T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation.
J. Immunol., Mar;170(5):2711-8 (2003)
Treatment options for genetically determined immunodeficiency.
Lancet., Feb;361(9357):541-2 (2003)
Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
Blood., Mar;103(6):2009-18 (2004)
Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency.
Clin. Immunol., Jan;110(1):63-70 (2004)
Pulmonary complications of primary immunodeficiencies.
Paediatr Respir Rev., 5 Suppl A:S225-33 (2004)
Immunoglobulin G subclass deficiency: fact or fancy?
Curr Allergy Asthma Rep., Sep;2(5):356-60 (2002)
Primary immunodeficiency diseases: dissectors of the immune system.
Immunol. Rev., Jul;185:206-19 (2002)