Primary antibody deficiencies in Turkey: molecular and clinical aspects

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n?=?4), CD40L (n?=?1), ICOS (n?=?1), IGHM (n?=?1), and TCF3 (n?=?1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2–10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.

     

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects

Immunologic Research -     

Halitosis in patients with Helicobacter pylori-positive non-ulcer dyspepsia: an indication for eradication therapy?

BACKGROUND: The aims of this study were to investigate the frequency of halitosis before and after eradication therapy and to determine whether halitosis is a valid indication for eradication therapy in patients with Helicobacter pylori (H. pylori)-positive non-ulcer dyspepsia. METHODS: Dyspepsia, related symptoms, and halitosis were investigated by way of a questionnaire. Only H. pylori-positive patients who showed no organic lesions on endoscopic examination and no atrophy histopathologically were included. A total of 148 patients fulfilled the above criteria and completed the study. Four weeks after the end of eradication treatment, the symptoms were re-evaluated and repeat endoscopy was done to check for H. pylori in the gastric mucosa. Results: H. pylori eradication was successful in 109 patients (73.6%). Prior to treatment, bloating was the most frequent symptom (74.3%), followed by diurnal pain (62.2%) and halitosis (61.5%). The most successfully resolved symptoms in the group as a whole, regardless of eradication status, were halitosis, diurnal pain, and hunger-like pain, respectively. In the patients with confirmed H. pylori eradication, the most successfully resolved symptoms were halitosis and hunger-like pain, respectively. CONCLUSION: Halitosis is a frequent, but treatable, symptom of H. pylori-positive non-ulcer dyspepsia and may be a valid indication for eradication therapy.     

Superficial venous thrombophlebitis caused by rocuronium

Pain is one of the major disadvantages of rocuronium, which is used during induction of anesthesia. Even at subparalyzing doses, 50–100% of patients complain of intense pain. Sudden flexion and withdrawal movement in the wrist or arm have been reported following rocuronium use in many papers. No information about risk factors leading to this withdrawal movement or pain on injection is available and whether this reaction leads to erythema or to venous sequelae (i.e. thrombosis and thrombophlebitis) has not been systematically investigated. However, in both of our cases, visible reactions occurred and both patients were diagnosed with venous superficial thrombophlebitis. Therefore, we believe that rocuronium-related pain may, in part, be because of direct venous injury.     

Protracted febrile myalgia syndrome in familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal, recessively inherited multisystem disease that affects various groups of people originating from the Mediterranean Sea region, most specifically those of Jewish, Turkish, Armenian, and Arabic ethnicity. Recurrent attacks of fever and sterile polyserositis of the peritoneum, synovial membranes, and pleura are the main clinical features, although the clinical features of FMF have been expanded in recent years to also include severe myalgia, scrotal swelling, cardiac involvement, and protracted febrile myalgia syndrome (PFMS). PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Schönlein purpura (HSP). Here, we report on a patient with FMF who also presents with PFMS, which is an uncommon and severe manifestation of the disease.     

The development of giant lipoma on the BCG vaccine caused scar

Lipoma is the most common mesenchymal tumors that accounts for about 6% of all soft-tissue tumors in children. The lesion size is usually around 1-2?cm that rarely reaches the bigger diameter. A 14-month-old baby girl was brought to our clinic for a progressively growing lesion on the left shoulder. The lesion started 4 months ago, and then was rapidly growing that caused pain and movement restriction. On the same site, there was a scar of BCG vaccination. The clinical and histopathological findings of the lesion were consistent with lipoma. The lesion was totally resected with no recurrence within 12 months. There are several complications related to BCG vaccination. However, the occurrence of lipoma on BCG vaccine caused scar has not been reported in literature. We reported this case because of its rarity and to emphasize that lipoma can present as a giant lesion in child.