Elif Soyak Aytekin, TurkeyHacettepe University Ihsan Dogramaci Children Hospital Clinical Immunology
Presenter Of 3 Presentations
VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE SECONDARY TO XIAP DEFICIENCY
Background and Aims
The X-linked inhibitor of apoptosis (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome type 2 (XLP-2) , is rare primary immunodeficiency.We report a patient who had XIAP gene defect and presented with very early onset inflammatory bowel disease and recurrent hemophagocytic lympohistiocytosis (HLH).
The patient who had chronic diarrhea and history of HLH was referred to our hospital for further evaluation at 8 months of age. Chronic diarrhea was started when he is 40 days old and he suffered from a HLH episode at two months of age.
In his follow up ,bone marrow aspiration was done due to prolonged fewer and hemophagocytosis was detected. Pulse methylprednisolone (mpz) and intravenosus immunoglobulin( 400 mg/kg/day) was administered. We continued with 1mg/kg mpz colonoscopy revealed , multiple, lineer ulcers covered with white membranes in the rectum.
In the follow-up we performed next generation sequencing analysis for primary immunodeficiency diseases, and a homozygous c.518G>A (p.Trp173Ter) XIAP gene defect was found.
XIAP deficiency should be considered in patients presenting with very early onset inflammatory bowel disease and recurrent HLH. Early diagnosis and hematopoietic stem cell treatment will decrease the risk of life threatening complications.
CHRONIC GRANULOMATOUS DISEASE IN A CHILD WITH EOSINOPHILIC ESOPHAGITIS
Background and Aims
Chronic granulomatous disease (CGD) is a primary neutrophil disease and a rare disorder associated with recurrent severe bacterial and fungal infections. Here we describe a child who admitted hospital with progressive dysphagia and diagnosed at the end with chronic granulomatous disease.
A 10 year-old boy, was admitted to Hacettepe University Ihsan Dogramaci Children’s Hospital with 3 months history of nausea, vomiting and progressive dysphagia including both solids and liquids. In the laboratory analysis, cell blood count showed eosinophilia (700/μL), hypergamaglobulinemia and mildly high serum IgE level (127 UI/mL).Thoracic CT imaging revealed a soft tissue mass, forming increased eccentric thickness around the esophagus, starting from carina and extending till gastroesophageal junction.Transthoracic biopsy from esophagus showed eosinophilic esophagitis.
The patient was tested for primary immunodeficiencies and diagnosis of CGD was confirmed by both abnormal neutrophil nitroblue tetrazolium (NBT) and dihydrorhodamine test. 1 mg/kg/day methyl prednisolon was started and given for 2 weeks for eosinophilic esophagitis. Interferon (IFN)-gamma (50mcg/m2/day twice a week) and TMP-SMX and itraconazole prophylaxis were started. Isoniazide and rifampicin were given as ppd was 15 mm.
Defects in the subunits of nicotinamide dinucleotide phosphate (NADPH) oxidase enzyme complex in phagocytes cause the disease. Patients typically present with infections. CGD may cause noninfectious complications including a wide range of inflammatory diseases.In the present patient eosinophilic esophagitis causing disphagy was the first symptom of CGD. CGD cause increased incidence of GI disease. Thus, patients with distinct GI manifestations should be evaluated for CGD.
THE ASSOCIATION OF LYMPHOMA WITH PRIMARY IMMUNODEFICIENCIES
Background and Aims
Patients with primary immunodeficiency disorder(PID) have a markedly increased risk of lymphomas. Here, we report twelve patients with PID diagnosed as lymphoma. Our aim was to evaluate the characteristics of the patients with PID who were diagnosed with lymphoma.
Clinical, immunophenotypic and genetic analysis of 12 patients with PID were obtained from medical records of Hacettepe University Ihsan Dogramaci Children Hospital, Department of Pediatric Immunology from 2016 to 2019.
Twelve patients (female/male:6/6) was diagnosed as lymphoma and PID. The consanguinity ratio was 66%. Nine patients(75%) were diagnosed with lymphoma before PID. PID cases included combined immune deficiency(n:11) and ataxia telangiectasia(n:1). Three patients had defects in LRBA, while two patients and one patient had PI3KCD and STK4 defects, respectively.
Recurrent repiratory tract infections(83%) and chronic lung disease(66%) occurred in patients. Immune thrombocytopenic purpura(n:2), autoimmune hemolytic anemia(n:2), Celiac disease(n:1), amiloidosis(n:1), optic neuritis(n:1), psoriasis(n:1) and lymphoproliferation (lymphadenopathy(100%) and splenomegaly(83%)) were also reported.
The lymphoma was associated with Epstein-Barr virus (EBV) in 7 patients. Five of twelve patients (41%) are in remission, two patients(18%) are receving chemotherapy and five patients(41%) suffered from relapse within two year. Of the five patients who experienced relapse, three patients are in the second remission, and one patient is receiving chemotherapy. One patient with STK4 deficiency died from pneumonia during relapse chemotherapy.
Malignancies may be the first or only sign of an underlying PID. Patients diagnosed with lymphoma should be considered to have a PID, if there is parental consanguinity, EBV assosiation, recurrent and severe infections, autoimmunity and lymphoproliferation.