Andrew C Issekutz

Anna-Claire Coleman

Christie Riddell

Elie Haddad

Thomas B Issekutz

Allergy, Asthma & Clinical Immunology

English

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MEETING ABSTRACT Open AccessPatient with X-linked phenotype of SCID,markedly skewed maternal X-inactivation,but normal common gamma chain (CD132)gene ORF sequenceAnna-Claire Coleman1*, Andrew C Issekutz1, Christie Riddell2, Elie Haddad3, Thomas B Issekutz1From Canadian Society of Allergy and Clinical Immunology Annual Scientific Meeting 2012Calgary, Canada. 11-14 October 2012BackgroundA 7.5-month old male presented with increasing respira-tory distress progressing to severe hypoxia, an erythema-tous scaling rash and a paucity of lymphoid tissue. Chestx-ray revealed bilateral pneumonia with diffuse alveolaropacities. He had an increased neutrophil count, normalhemoglobin and platelet count, and an absolute lympho-cyte count of 4.3 x 109/L decreasing to 1.8 x 109/L. IgGwas 1.72 g/l, IgA 0.59 g/l and IgM 1.08 g/l, but no antibodyto tetanus, diphtheria or pneumococcus despite immuniza-tion. Nasopharyngeal aspirate demonstrated rhinovirus byPCR, and tracheal aspirate was positive for Pneumocytis jir-oveci by immunofluoresence. Lymphocyte markers showed:62% CD19+, 24% CD4+, 1% CD8+ cells and 0.5% NK cells.CD4+ cells were 90% CD45RO+, 8% CD45RA+ and 5%were CD25+. His cells had no proliferative response toanti-CD3 or IL-2 stimulation, a weak response to PHA,and no response to antigen or MLR. BMT was performedfrom a HLA-identical sister and the patient is well 7months post BMT.ConclusionThe decreased and non-functional T cells, absence of NKcells and normal number of B cells, and lack of prolifera-tion to IL-2 is typical of X-linked common gamma chainor JAK3 deficient SCID. DNA sequencing showed nosequence variants in the ORF of the common gammachain, but the patient’s mother has an abnormal lympho-cyte subset profile and maternal T cells are markedlyskewed to use one X-chromosome (non-random), while Bcells demonstrate random X-inactivation. Investigationsare underway to assess whether this patient has an unusualform of X-linked SCID.Author details1Department of Pediatrics, Dalhousie University, Halifax NS, Canada.2Department of Molecular Diagnostics, IWK Health Centre, Halifax, NS,Canada. 3Department of Pediatric Immunology and Rheumatology,CHU Sainte-Justine, Montreal, QC, Canada.Published: 2 November 2012doi:10.1186/1710-1492-8-S1-A24Cite this article as: Coleman et al.: Patient with X-linked phenotype ofSCID, markedly skewed maternal X-inactivation, but normal commongamma chain (CD132) gene ORF sequence. Allergy, Asthma & ClinicalImmunology 2012 8(Suppl 1):A24.Submit your next manuscript to BioMed Centraland take full advantage of: • Convenient online submission• Thorough peer review• No space constraints or color figure charges• Immediate publication on acceptance• Inclusion in PubMed, CAS, Scopus and Google Scholar• Research which is freely available for redistributionSubmit your manuscript at www.biomedcentral.com/submit* Correspondence: colanna@gmail.com1Department of Pediatrics, Dalhousie University, Halifax NS, CanadaFull list of author information is available at the end of the articleColeman et al. Allergy, Asthma & Clinical Immunology 2012, 8(Suppl 1):A24http://www.aacijournal.com/content/8/S1/A24 ALLERGY, ASTHMA & CLINICAL IMMUNOLOGY© 2012 Coleman et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited.

Allergy Asthma & Clinical Immunology

Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequence

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Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequence

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