Rationale To report our local experience with primary immunodeficiency disorders (PID): clinical features, management, and outcome. Methods We identified children diagnosed with PID in our centre from 2001 to 2005. Demographic data, time and mode of presentation, family history and outcome were evaluated by chart review. Results Eleven patients were diagnosed with PID. Seven had severe combined immunodeficiency disease (SCID) (63.6%) (4 males) with a median age of 3 months (Range 0.5 - 4 months). Four had (T-, B-, NK+), 2 with (T-, B+, NK-), and one with omenn's syndrome. All 7 patients are products of consanguineous marriages. Presentation at diagnosis included: diffuse exfoliative erythematous skin rash in 4 patients, recurrent chest infections and diarrhea in 3, oral thrush in one, discharging ears in 2, and necrotic lip and eyelid ulceration in one. Two patients had undergone successful bone marrow transplantation (BMT), and one is under work up for BMT. The remaining 4 patients were not candidates for BMT because of severe disseminated systemic infections that led to death. Two twin brothers were diagnosed with hypogamaglobulimemia [2/11 (18.2%)]. One presented at age 4 years with brain abscess resistant to antibiotics, and the other was diagnosed upon screening. Two brothers were diagnosed with chronic granulomatous disease [2/11 (18.2%]. One presented with pulmonary aspergillosis, and the other was diagnosed upon screening. Conclusion Unlike the international classification, our local experience indicates that SCID is a more predominant form of PID than hypogamaglobulimemia. High consanguineous marriage rate in our community is a likely explanation.
Full conference title:
2008 American Academy of Allergy, Asthma, and Immunology Annual Meeting
- AAAAI 2008 (64th)