Delayed diagnosis of chronic pancreatitis with cystic fibrosis and pancreas divisium

The incidence of pancreatitis in children and adolescents has increased in recent years. The etiology of pancreatitis is more diverse in children compared to adults. Pancreatitis may present as acute pancreatitis, recurrent acute pancreatitis or chronic relapsing pancreatitis. The majority of children with chronic pancreatitis had identifiable genetic risk factors associated with pancreatitis or congenital anomalies of the pancreaticobiliary system. Pancreatitis is a known complication of cystic fibrosis (CF) and may be the first manifestation of the disease in some cases. We report a case of late-diagnosed CF presenting with chronic pancreatitis and pancreas divisum. [Med-Science 2017; 6(3.000): 557-9

The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country

Giriş: Kronik granülomatöz hastalık (KGH): Fagositik hücrelerin, bazı bakteri ve mantarları fagosite ettikten sonra öldürememesiyle karakterize heterojen, kalıtsal primer bir immünyetmezlik hastalığıdır. Doğal ve kazanılmış bağışıklık yanıtta rol oynayan interferon-gama (INF-?), KGH tedavisinde uzun yıllardır kullanılmasına rağmen etkinliği hala tartışılmaktadır. Gereç ve Yöntem: Çalışmamızda, 14 immünoloji merkezinde KGH tanısıyla takip edilen toplam 57 hastanın demografik verileri, infeksiyöz ve granülomatöz komplikasyonlar gibi klinik bulgularına ait verileri, INF-? tedavisi öncesi ve sonrası anket formları üzerinden değerlendirildi. Bulgular: Çalışmaya alınan 57 hastanın 14 (%25)’ü kadın ve 43 (%75)’ü erkekti. Yaş ortalaması 10.9 7.4 yıl iken tanı yaşı ortalaması ise 4.9 4.8 yıl olarak saptandı. Hastaların %56’sında akrabalık öyküsü ve %60’ında ise ailede primer immünyetmezlik (PİY) öyküsü vardı. Olguların %95’i trimetoprim-sülfametoksazol (TMP-SMX) ve %89.5’i itrakonazol tedavisi alırken %60’ı INF-? kullanıyordu. INF-? alanlarda, almayanlara göre ciddi infeksiyon, pnömoni, yumuşak doku infeksiyonu ve lenfadenit gibi infeksiyöz komplikasyonların sıklığının daha az olduğu görüldü. Ayrıca, INF-? alanlarda, aspergillozis infeksiyonu, organ apsesi, granülomatöz reaksiyon sıklığının daha az olduğu saptandı. Hastaların KGH alt tiplerine göre yıllık infeksiyöz komplikasyonları karşılaştırıldığında; gp91phox alt tipinde INF-? alan grupta infeksiyon sıklığının daha az olduğu görüldü. Sonuç: KGH’li olguların demografik ve klinik özelliklerini yansıtan çalışmamız göstermiştir ki, KGH’de INF-? profilaksisi tedavisi, infeksiyöz ve granülomatöz komplikasyon sıklığını azaltmakta ve bu tedavi özellikle gp91phox alt tipinde etkili olmaktadır.Objective: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunode- ficiency that is characterised by bacteria and fungal infections with defective phagocytosis. Interferon- gamma (INF-γ) has diverse roles in the innate and adaptive responses. Despite several decades of work on INF-γ treatment in CGD, contraversy remains about its use. Materials and Methods: Fifty seven patients with CGD from 14 immunology centers were enrolled to our multi-center study. A questionnaire including patients demographic datas and clinical manifestations such as infectious and granulomatous complications up to enrolment was obtained before and after INF-γ therapy. Results: Fifty seven patients 14 (25%) girls and 34 (75%) boys aged from 2-35 years (mean age: 10.9 ± 7.4 ) were enrolled. The mean age of diagnosis were 4.9 ± 4.8 (0.1-19). 56% of the patient’s family had consanguineous marriage and 60% had a primary immunodeficiency (PID) history. Ninety five of the patients were treated with trimethoprim-sulfamethoxazole (TMP-SMX) and 89.5% of them with itraconazol while 60% of them were received INF-γ treatment. The patients receiving INF-γ therapy tend to have lower infectious complications like severe infections, pneumonia, soft tissue infections and lymphadenitis. Aspergillus infection, tissue abcesses and granulomatous complications were also lower in this group. The annual infectious complications according to CGD subtypes, were also lower in gp91phox with receiving INF-γ therapy. Conclusion: The demographic and clinical data of CGD patients in our study indicate that INF-γ prophylaxis treatment decreases the infectious and granulomatous complications in some majority of CGD patients especially in gp91pho

Hematopoietic stem cell transplantation in CD40 ligand deficiency: A single-center experience

Deficiency of the CD40L, expressed on the surface of T lymphocytes, is caused by mutations in the glycoproteinCD40L (CD154)gene. Resulting defective humoral and cellular responses cause a clinical presentation that includes recurrent sinopulmonary bacterial infections, opportunistic infections, sclerosing cholangitis, neutropenia, and autoimmune manifestations. HSCT represents the only curative treatment modality. However, the therapeutic decision to use HSCT proves challenging in many cases, mainly due to the lack of a phenotype-genotype correlation. We retrospectively reviewed patients with CD40L deficiency who were transplanted in Antalya and Goztepe MedicalPark Pediatric HSCT units from 2014 to 2019 and followed by Akdeniz University School of Medicine Department of Pediatric Immunology. The records of eight male cases, including one set of twins, were evaluated retrospectively. As two transplants each were performed on the twins, a total of ten transplants were evaluated. Conditioning regimens were predominantly based on myeloablative protocols, except for the twins, who received a non-myeloablative regimen for their first transplantation. Median neutrophil and platelet engraftment days were 13 (range 10-19) and 14 (range 10-42) days, respectively. In seven of ten transplants, a CMV reactivation was developed without morbidity. None of the patients developed GVHD, except for one mild case of acute GVHD. All patients survived, and the median follow-up was 852 days. Our data show that HSCT for patients with CD40 ligand deficiency is a potentially effective treatment for long-term disease control

The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country

Objective: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterised by bacteria and fungal infections with defective phagocytosis. Interferon-gamma (INF-gamma) has diverse roles in the innate and adaptive responses. Despite several decades of work on INF-gamma treatment in CGD, contraversy remains about its use