سال:1399 | دوره: | شماره: |تعداد مقالات:6

Introduction Primary immunodeficiency disorders (PIDs) are hereditary inborn errors of immunity characterized with susceptibility to recurrent infections, allergy, malignancy and autoimmune diseases (1). More than four hundred genetic defects caused to PIDs are described up to now and the number is increasing every day. Despite rapid increase of the numbers of identified genetic defects, the awareness of PIDs is not high enough among the physicians, medical students and families (2, 3)which show the need to a PID awareness program. . . .

Autoimmunity is observed by almost one-third of patients with CVID. Different mechanisms including genetic defects and dysregulation of innate and adaptive immunity leads to autoimmunity in these patients CVID. The clinical phenotypes of autoimmunity in CVID patients comprise fall in a wide spectrum, from organ-specific autoimmunity to systemic complications. The most common autoimmunity is autoimmune cytopenia in CVID patients. In this article, we have provided a collection of the most significant and recent information about prevalence, genetics, pathogenesis and clinical manifestations of autoimmunity in CVID patients, and provided an overview on its management and future perspective.

Background/objectives: CVID is known as the most prevalent symptomatic primary immunodeficiency (PID) characterized by heterozygous manifestations including several infectious and non-infectious complications. Accordingly, although the hallmark of this disease is the development of recurrent sinopulmonary infections, different types of autoimmunity are frequently reported in CVID subjects. So in this study, we aimed to provide an update report on various autoimmunity manifestations in a group of CVID patients in Iran. Methods: Demographic, clinical, and immunologic data of Iranian CVID cases who were followed up at children’ s medical center were collected. Based on the presence of autoimmunity, the patients were then divided into two groups of autoimmunity and non-autoimmunity for further analyses. Results: Among 301 CVID cases enrolled in this study, 81 (26. 9%) had autoimmunity that was mostly manifested as autoimmune cytopenia; 21 (24%) out of these 81 individuals had immune thrombocytopenic purpura (ITP) and 14 (17. 3%) patients showed autoimmune hemolytic anemia (AIHA). Moreover, Rheumatologic autoimmune disorders such as Juvenile Idiopathic Arthritis (JIA) and Juvenile Rheumatoid Arthritis (JRA) were observed in 7 (8. 6%) and 5 (6. 2%) individuals, respectively. Also, inflammatory bowel disease in 6 subjects (7. 4%) and vitiligo in 7 patients (8. 6%) were the most observed gastrointestinal and dermatologic autoimmune disorders in this study. Accordingly, some of these conditions were concomitant in a single individual. Additionally, several significant correlations were observed between autoimmunity and other complications including sinusitis (P=0. 04), Bronchiectasis (P=0. 002), Chronic diarrhea (P=0. 000), and thrombocytopenia (P=0. 000). Conclusion: Autoimmunity and its association with other clinical manifestations should be paid more attention among CVID patients.

Fanconi Anemia (FA) is a rare genetic disease identified by a mutation in any of THE 22 FA associated genes that are linked with bone marrow failure and immunodeficiency. Of all FA associated genes, the most frequent mutation has been reported in the FANCA gene worldwide, which is responsible for about 60-65% of all cases. In this study, we presented a case with a new missense mutation in the FANCA gene among the Iranian population. Accordingly, bruising around the eyes as the first symptom was manifested in an around 10-years-old case, along with lung infection, and pancytopenia while normal serum immunoglobulin levels were also observed.

Interleukin 10 (IL-10) and IL-10 receptor (IL-10R) deficiencies are among the primary immunodeficiency disorders (PIDs) caused by the loss-of-function mutations in the IL-10 or IL-10R encoding genes. IL-10 and IL-10R deficiencies are not prevalent and only a few cases have been reported in this regard so far. Among the patients, very early onset of the inflammatory bowel disease (VEO-IBD), usually during the infancy is the most common clinical manifestation of the disease. Almost all the patients come from the consanguineous families and present a similarly severe state of the disease. Therefore, in this study, the case of a 7-month-old girl, admitted with severe dehydration due to the watery diarrhea, fever, and repeated hospitalization with atrophic thymus was reported. According to the patients҆ past medical history, she came from a family with consanguineous marriage, and her sister also had died from the chronic diarrhea. She was nominated for the genetic examination to identify the underlying causes of her disease because of the normal laboratory analysis and standard immunological workup. Genetic evaluation by the whole exome sequencing revealed a homozygous mutation in the gene encoding the IL-10RB with a large deletion in the exons 3-7. Unfortunately, she deceased at the age of one before the hematopoietic stem cell transplantation.

Griscelli syndrome (GS) is a rare autosomal recessive disorder, which is characterized by albinism with immunodeficiency and usually causes death in early childhood. Accordingly, this syndrome is a primary immune defects presented with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. Moreover, in different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we reported a oneyear-old male child with an upper respiratory infection and retropharyngeal abscess as the first clinical manifestation.