Search

Wiskott Aldrich Sendromu (WAS) X’e bağlı resesif kalıtılan, nadir görülen genetik bir hastalıktır. WAS proteini (WASp) genindeki mutasyondan kaynaklanmaktadır. WAS proteini aktin hücre iskeleti organizasyonu ve sinyalizasyonunda rol oynar, bunun yanında bağışıklık sistemi hücrelerinin işlevlerinde kritik bir rol sahibidir. Hastalığın karakteristik klinik triadı mikrotrombositopeni, egzama ve immun yetmezliktir. Hastaların kliniği WASP mutasyonunun tipine göre şiddetli fenotipten (klasik WAS) daha hafif olanlara (X'e bağlı trombositopeni (XLT) ve X'e bağlı nötropeni) kadar değişiklik göstermektedir. WAS hastalarında bakteriyal, fungal ve viral enfeksiyonlara yatkınlıkla beraber, otoimmun hastalık (otoimmun hemolitik anemi, vaskülit, inflamatuar barsak hastalığı) ve malignite (özellikle lenfoma) riski artmıştır. WAS hastalarında tedavi yönetimi, klinik fenotipe göre bireyselleştirilmelidir. Enfeksiyonlara yönelik profilaktik antibiyoterapi ve intravenöz immünoglobulin replasman tedavisi uygulanmaktadır. Allojenik hematopoietik kök hücre nakli ise WAS'lı hastalar için altta yatan immün yetmezlik ve trombositopeninin düzeltilmesini sağlayan altın standart tedavidir. Son zamanlarda hematopoietik kök hücre gen tedavisi de potansiyel terapötik strateji olarak gündeme gelmiştir. Otolog gen tedavisi, allojenik kök hücre nakli için donörü olmayan hastalara umut verici bir alternatif olarak görünmektedir.

Background-aim: In this narrative review, firstly we describe the characteristics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and the pathogenesis of its infection in humans. Later, the importance of mast cells in SARS-CoV-2 infection and their role in Coronavirus Disease 2019 (COVID-19) will be discussed. SARS-CoV-2 is a transmissible agent frequently detected in some mammalian species and nowadays also in humans. Methods: Literature data published in PubMed that covered mast cells' role in cytokine release syndrome and related manifestations of COVID-19 disease was reviewed by the authors independently and collectively. Recommendations for the management of cytokine release syndrome and related manifestations were made by the authors. Results: Mast cells are concentrated in environments where they encounter viruses, bacteria, and toxins, especially in the skin, nasal mucosa, lungs, airways, gastrointestinal tract, and meninges, to prevent their entry into the human body. Once SARS-CoV-2 enters the host, it stimulates one of them, mast cells, together with pre-existing innate immune cells that form a defensive barrier in the submucosa of the respiratory tract and nasal cavities against pathogenic microorganisms. The roles of mast cells in SARS-CoV-2 -induced hyper inflammation and cytokine storms have recently been one of the hot topics mostly discussed in the literature. Conclusion: Physicians should keep in mind the mast cells' role in cytokine release syndrome and related manifestations of COVID-19 disease. Mast cell-targeting therapies (eg, H1 and H2 receptor antagonists) can reduce the severity and course of the disease when used after complications associated with COVID-19 are suspected or seen.

Nephrotic syndrome is characterized by diffuse edema, massive proteinuria and hypoalbuminemia. It usually occurs between the ages of 2-6. Due to periorbital edema these patients are mistakenly diagnosed with allergic disease. A 4-year-old 9-month-old male patient, who had no known disease under follow-up, was admitted to the pediatric surgery service due to bilateral hydrocele and inguinal hernia, was planned to be operated on, and bilateral swelling in his eyes was noticed in the preoperative evaluation, was consulted to the pediatric immunology-allergy department. His general condition was good, his skin turgor was normal, his eyelids were edematous. There was bilateral pretibial pitting edema and bilateral transluminated swelling in the scrotum. In laboratory examination: Albumin: 1.6g/dl, Sedimentation:76 mm/hr, C3:1.23 mg/dl, and C4: 0.24 mg/dl. In urine: density: 1051, protein: +++, protein/creatinine was 17.8 mg/mg. Both nephrotic syndrome and angioedema cause severe edema of the eyelids and genital area. Therefore, laboratory tests, clinical findings and careful examination are sufficient for differential diagnosis. In our study, we aimed to present a case of nephrotic syndrome with a prediagnosis of allergic angioedema.

The new coronavirus infection pandemic entered our lives rapidly and comorbid diseases were defined for this infection, which progressed with severe lung involvement. Due to its multifactorial pathophysiology, asthma has become one of the most curious and researched diseases and its comorbidity in COVID-19 is controversial. Although there are hypotheses in the literature stating that allergic asthma is protective, there are also hypotheses that argue that if the patient develops symptoms in allergic asthma, the course will be more severe. Our 20-year-old patient, who was diagnosed with allergic asthma, had a history of incomplete allergen immunotherapy, and whose symptoms were under control with omalizumab for 1 year, survived the COVID-19 infection without developing cough or other asthma attack symptoms, without being admitted to hospital. By presenting this case, we wanted to contribute to the understanding of the relationship between asthma, omalizumab treatment and COVID-19.

Primary immunodeficiencies are diseases that predispose to malignancies other than recurrent infections. Genomic instability due to some unknown mechanisms and defective DNA repair processes in patients with primary immunodeficiency causes an increase in cancer risk, and it is thought that the risk of developing cancer in these patients varies between 4.7-5.7%. After infections, the most common cause of death in patients with primary immunodeficiency is malignancies. In this article, our first case is the patient who applied to the hospital with the complaint of cough and was diagnosed with Burkitt's lymphoma in the follow-up, and at this stage, low immunoglobulins were detected in the tests and the diagnosis of lymphoma was simultaneously diagnosed as common variable immunodeficiency. Our second case is our patient who developed acute lymphoblastic leukemia while being followed up due to primary immunodeficiency. Here, we aimed to draw attention to the fact that the unusual first presentation of patients with primary immunodeficiency may be associated with malignancy and to increase the awareness of clinicians following patients with primary immunodeficiency about the development of malignancy.