Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients
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ORIGINAL RESEARCH
Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients Bandar K. Al-Saud & Zobaida Al-Sum & Hanadi Alassiri & Abdulaziz Al-Ghonaium & Saleh Al-Muhsen & Hasan Al-Dhekri & Rand Arnaout & Osama Alsmadi & Esteban Borrero & Asm’a Abu-Staiteh & Faisal Rawas & Hamoud Al-Mousa & Abbas Hawwari
Received: 10 December 2012 / Accepted: 3 October 2013 # Springer Science+Business Media New York 2013
Abstract Purpose Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few reported cases. In this study, we further characterize the clinical, immunological, and molecular profiles of the disease in a cohort of 11 patients. Methods Molecular genetic analysis and a comprehensive clinical review of patients diagnosed with HIGM3 at our tertiary care center from 1994 to 2011 were undertaken. Results Eleven patients from seven families were enrolled. The patients had a median age of 9 years [ranging from 2 to
Electronic supplementary material The online version of this article (doi:10.1007/s10875-013-9951-9) contains supplementary material, which is available to authorized users. B. K. Al-Saud (*) : Z. Al-Sum : A. Al-Ghonaium : S. Al-Muhsen : H. Al-Dhekri : R. Arnaout : H. Al-Mousa Section of Allergy and Immunology, Department of Pediatrics, MBC-58, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia e-mail: [email protected] B. K. Al-Saud : R. Arnaout : H. Al-Mousa College of Medicine, Alfaisal University, Riyadh, Saudi Arabia H. Alassiri : O. Alsmadi : E. Borrero : A. Abu-Staiteh : A. Hawwari (*) Genetics Department, Research Centre, MBC-03, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia e-mail: [email protected] H. Alassiri : S. Al-Muhsen King Saud University, Riyadh, Saudi Arabia F. Rawas Pathology & Laboratory Medicine Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
22 years old]. All 11 patients had recurrent chest infections at presentation. Pneumocystis jiroveci pneumonia was confirmed in three patients. Five patients had sclerosing cholangitis, and five patients had Cryptosporidium isolated from their stool. Six patients had nasal and sinus infections, and two of these patients had destructive nasal fungal infections. Eight patients had neutropenia. All of the patients had low IgG and normal or high IgM levels. IgA was undetectable in all but three patients. Two novel mutations were found: a splice site for intron 3 and a missense mutation located in the coding region of exon 3. Two patients underwent successful stem cell transplantation from a matched donor. Four patients are doing well on prophylaxis; two are very sick, one with protracted diarrhea and persistent Cryptosporidium and the other with neurological complications. Three patients died early in life as a result of severe sepsis. Conclusions To our knowledge, this report provides the largest cohort of pat
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