A document by Deniz Cagdas Ayvaz. Click on the document to view its contents.

Abstract Backgrounds: Mutations in DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and afterwards gain-of-function. The clinical phenotype is broad and can include chronic mucocutaneous candidiasis and/or combined immunodeficiency. Objectives: We report a case of 7-year old female patient. She had recurrent pneumonia since infancy and she was hospitalized several times. She had persistant lymphopenia with normal immunoglobulin levels and lymphocyte subsets. Findings: STAT1 mutation was defined by next generation Sequencing PID panel. Despite the antifungal therapy, oxygen requirement continued, methylprednisolone and Janus-associated kinase (JAK) inhibitor (ruxolitinib) was started as therapy. Immunodysregulatory features of disease improved after Janus kinase inhibitor treatment. Conclusion: In patients with STAT1 GOF defect, ruxolitinib treatment may be effective for interstitial lung disease if hematopoietic stem cell transplantation can not be performed.

Background: Selective IgM deficiency (sIgMD), classified under primary immunodeficiencies, is characterized by low serum IgM(<2SD for age), normal IgG and IgA levels. The aim of this study was to define immunologic and clinical features of sIgMD. Method: We assessed a retrospective medical record of patients who fullfilled the criteria for sIgMD in a Pediatric Immunology department. Results: There were 55 patients with sIgMD. Out of 55 patients, thirteen(23.6%) diagnosed with a well-defined primary immunodeficiency (PID) during the follow-up.The ratio of the sIgMD was %0.12 in the out-patient clinic of pediatric immunology. Out of 33 patients, 8(23.5%) were asymtomatic during the follow-up period. Fifteen(45.4%) patients presented with several type of infections). Six patients (18%) had chromosomal anomaly, or syndrome (trisomy 21, 22q11.2 deletion 1p deletion, CHARGE syndrome, and Cohen Syndrome). Six (18%) had autoimmune/inflammatory diseases, such as Behcet’s disease, immune thrombocytopenic purpura, Crohn disease, Guillain Barre syndrome, and diabetes mellitus. Five(15%) had allergic disorders. Three(9%) have developed malignancy. The diagnoses of thirteen PID patients were combined immunodeficiency, common variable immunodeficiency, autoimmune lymphoproliferative syndrome, chronic granulomatous disease, adenosine deaminase deficiency, and congenital neutropenia. Genetic disorders, autoimmune/inflammatory and allergic diseases may accompany sIgMD. Approximately one third of the patients were asymptomatic in our series. Malignancy risk is relatively increased. We observed that an important ratio of patients with low IgM (23.6%) got sooner the diagnosis of a specific PID in the follow-up period. Conclusion: Thus, patients with sIgMD should be followed regularly in immunology clinics.