Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient.

Introduction: Inborn errors of immunity (IEI) are disorders that present a health issue, especially in developing countries where there is a high rate of consanguineous marriages and an increasing rate of diagnosis. One of these disorders is Bare Lymphocyte Syndrome II (BLS II) which is a rare and genetically complex disease that has high morbidity and mortality. The exact genotypic and phenotypic characteristics are still poorly characterized especially in developing countries. Case Presentation: Here, we report the first case of BLS II in a seven-month-old Sudanese female with recurrent chest infections, dermatitis, persistent diarrhea, and failure to thrive. The patient's all four sisters and three paternal uncles died in early infancy. Laboratory investigations revealed low CD3+, CD4+, and CD8+ lymphocytes, along with normal CD19+ and CD16+ lymphocytes, and low serum IgM and IgA levels. Genetic analysis revealed two CIITA variants; c.2296C >G p. (Pro766Ala) and c.439+1G >A. Conclusion: Further bioinformatics, immunological and clinical workups supported a pathogenic effect of both mutations affecting the function of CIITA protein, and suggesting a compound heterozygote mutation. The patient was started on prophylactic antibiotics and regular intravenous immunoglobulin replacement therapy. The prognosis of this disease is poor in most of the cases, with only a few reported cases surviving until adulthood.

Unusual Presentation of Pleural Space Ascariasis Infection from Eastern Sudan: A Case Report.

Background: Ascaris lumbricoides is a common infectious parasite of the gastrointestinal tract worldwide, but the invasion of the pleural cavity is rare. Case Report: A 45-year-old man from Eastern Sudan presented to the emergency department complaining of breathlessness, cough stained with blood, and chest pain one month before his presentation. Also, he complained of high-grade fever for two weeks associated with sweating. Diagnosis of hydropneumothorax was made and a chest tube was inserted, two days later we found three adult A. lumbricoides worms in the chest drain. Conclusion: The patient was treated with Albendazole 200 mg, orally twice, daily for seven days, he improved and was referred to a cardiothoracic surgeon for more assessment. Our study highlights that internal medicine specialists should know about pleural ascariasis when patients present with respiratory signs and symptoms, especially in A. lumbricoides endemic regions like Eastern Sudan.