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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Clinical, immunological, and molecular characterization of Hyper-IgM syndrome due to CD40 deficiency in eleven patients
Journal of Clinical Immunology, Volume 33, No. 8, Year 2013
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Description
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 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 patients with this disease with a very long follow-up period. Our cohort showed variable disease severity. © 2013 Springer Science+Business Media New York.
Authors & Co-Authors
Al-Saud, Bandar K.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Al-Sum, Zobaida
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Alassiri, Hanadi
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Saud University
Al-Ghonaium, Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Muhsen, Saleh Zaid
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Saud University
Al-Dhekri, Hasan
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Arnaout, Rand Khaled H.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Alsmadi, Osama A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Borrero, Esteban
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Abu-Staiteh, Asma'
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rawas, Faisal
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Mousa, Hamoud A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Hawwari, Abbas
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 56
Authors: 13
Affiliations: 3
Identifiers
Doi:
10.1007/s10875-013-9951-9
ISSN:
02719142
e-ISSN:
15732592
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study