Emadia Alaki, Fahad Aljober, Khaleel Mohammed, Aziza Doungues and Jean Laurent Casanova
King Saud Medical City, KSA
Scientific Tracks Abstracts: J Clin Case Rep
Interleukin-12p40 deficiency is a very a rare genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). They are also susceptible to infection caused by weakly virulent mycobacteria, such as bacilli Calmette Gu├?┬ęrin (BCG) vaccines and environmental mycobacteria. Salmonellosis has been reported in almost half of affected patients. Here, we describe an 18 months old boy with absence of IL12p40 production suffering from recurrent non-typhoidal disseminated Salmonella, oral Candida and severe chest infection. According to our available data, we believe this is the first report case in our institute. Interleukin (IL)-12p40 deficiency is a very rare genetic etiology of Mendelian susceptibility to mycobacterial disease. Patients with IL-12p40 are susceptible to infection caused by, Bacille Calmette Gu├?┬ęrin vaccines, environmental mycobacteria and salmonellosis. In this case report, an 18 months old boy with absence of IL-12p40 production is suffering from recurrent dissemination with Non-Typhoid Salmonella (NTS), persistent fever, swelling, tender, discharge from left axillary lymph node, oral Candida, severe chest infection, recurrent gastroenteritis, septicemia with generalized lymphadenopathy and hepatosplenomegaly and PPD was negative. The patient is a product of apparently healthy family, parents are not consanguinity, he received all vaccinations with 5 siblings two of them are twins and one of those twins had a similar problem. At age of 36 months, the parents discontinued medications soon admitted to ICU and intubated. The culture was positive for group D (NTS), from the left axilla, spleen biopsy and blood. Fine needle aspiration showed no granuloma. NTS is sensitive to ampicillin, cefotaxime, ciprofloxacin and cotrimoxazole. Mycobacterium tuberculosis complex, polymerase cell reaction and culture for acid fast bacilli and all serological tests were negative. Radiologically bilateral multiple necrotic lymph nodes are extending down to the mandibular area, huge anterior mediastinal necrotizing and lower lobe infiltration. Samples were sent to France, showing absence of IL-12p40 production. Treated with TMP/SMX prophylactic according to (NTS) sensitivity and anti tuberculosis for one year and there are remarkable improvements. Gamma Interferon may have been a useful adjunct to antimicrobial therapy in his case. However the family refused to use gamma interferon since the patient improved in all conventional treatment.
Emadia Alaki is currently working as Pediatric Consultant Allergist & Immunologist and the Head of Allergy & Immunology Department in Pediatric Hospital at King Saud Medical City, Riyadh. She has graduated from King Abdulaziz University and has Certified Diploma of Childhood (DCH) Co-operation from Edinburgh University, Britain. She was certified by Arab Board from King Faisal Specialist Hospital and has taken Fellowship for Allergy and Immunology in same institution. In 2009, she has completed her Fellowship for Allergy and Immunology in Johns Hopkins University, USA. She is an active Member of several associations in Allergy and Immunology, has spoken at various national and international meetings and conferences and author of peer-reviewed publications in several international journals.
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