ABSTRACT
BACKGROUND AND OBJECTIVE: Common variable immunodeficiency (CVID) is considered the most symptomatic type of inborn errors of immunity in humans. Along with infectious complications, which have numerous consequences, non-infectious complications are also a major challenge among CVID patients. METHODS: All registered CVID patients in the national database were included in this retrospective cohort study. Patients were divided into two groups based on the presence of B-cell lymphopenia. Demographic characteristics, laboratory findings, non-infectious organ involvements, autoimmunity, and lymphoproliferative diseases were evaluated. RESULTS: Among 387 enrolled patients, 66.4% were diagnosed with non-infectious complications; however, 33.6% had only infectious presentations. Enteropathy, autoimmunity, and lymphoproliferative disorders were reported in 35.1%, 24.3%, and 21.4% of patients, respectively. Some complications, including autoimmunity and hepatosplenomegaly, were reported to be significantly higher among patients with B-cell lymphopenia. Among organ involvement, dermatologic, endocrine and musculoskeletal systems were predominantly affected in CVID patients with B-cell lymphopenia. Among autoimmune manifestations, the frequency of rheumatologic, hematologic, and gastrointestinal autoimmunity was reported to be higher compared to other types of autoimmunity independent from the B cell-lymphopenia. Furthermore, hematological cancers, particularly lymphoma, were slightly introduced as the most common type of malignancy. Meanwhile, the mortality rate was 24.5%, and respiratory failure and malignancies were reported as the most common cause of death in our patients without significant differences between the two groups. CONCLUSION: Considering that some of the non-infectious complications might be associated with B-cell lymphopenia, therefore, regular patient monitoring and follow-up along with proper medications (besides immunoglobulins replacement therapy) are highly recommended to prevent further sequels and increase the patients' quality of life.
ABSTRACT
Background: Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria (Bacillus Calmette-Guérin [BCG] vaccines and environmental mycobacteria), Mycobacterium tuberculosis, Candida spp. and Salmonella spp. The aim of this study is to evaluate clinical features and immunological findings of MSMD patients with interleukin 12 receptor beta 1 (IL12Rβ1) deficiency. Methods: Among 117 screened patients with BCG infection following vaccination, 23 suspected MSMD subjects were recruited to this study by the exclusion of severe combined immunodeficiencies and chronic granulomatous diseases. Flow cytometric assessment for surface expression of IL12Rβ1 was performed. Moreover, the clinical and immunological data from the patients was evaluated. Results: A significant decrease (less than 1%) in the surface expression of IL12Rβ1 was reported in six cases which showed a significant increase in the count of lymphocytes (p = 0.009) and CD8+ T cells (p = 0.008) as compared to MSMD subjects with normal expression of surface IL12Rβ1. The frequency of disseminated BCGosis (50% vs. 20%, p = 0.29), recurrent infection (83.3% vs. 40%, p = 0.14) and salmonellosis (33.3% vs. 0.0%, p = 0.07) was higher in IL12Rβ1 deficient subjects than IL12Rβ1 sufficient individuals. Conclusion: MSMD patients with childhood onset of mycobacteriosis (mostly after BCG vaccination) and recurrent salmonellosis could be evaluated for IL12Rβ1 expression with flow cytometry for punctual diagnosis
No disponible
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Herpes Simplex/immunology , Immunologic Deficiency Syndromes/immunology , Mutation/genetics , Mycobacterium bovis/immunology , Mycobacterium Infections, Nontuberculous/immunology , Simplexvirus/physiology , Receptors, Interleukin-12/genetics , Genetic Predisposition to Disease , Herpes Simplex/genetics , Immunologic Deficiency Syndromes/genetics , Mycobacterium Infections, Nontuberculous/genetics , Prospective Studies , Receptors, Interleukin-12/metabolismABSTRACT
BACKGROUND: Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by increased susceptibility to weakly virulent mycobacteria (Bacillus Calmette-Guérin [BCG] vaccines and environmental mycobacteria), Mycobacterium tuberculosis, Candida spp. and Salmonella spp. The aim of this study is to evaluate clinical features and immunological findings of MSMD patients with interleukin 12 receptor beta 1 (IL12Rß1) deficiency. METHODS: Among 117 screened patients with BCG infection following vaccination, 23 suspected MSMD subjects were recruited to this study by the exclusion of severe combined immunodeficiencies and chronic granulomatous diseases. Flow cytometric assessment for surface expression of IL12Rß1 was performed. Moreover, the clinical and immunological data from the patients was evaluated. RESULTS: A significant decrease (less than 1%) in the surface expression of IL12Rß1 was reported in six cases which showed a significant increase in the count of lymphocytes (p=0.009) and CD8+ T cells (p=0.008) as compared to MSMD subjects with normal expression of surface IL12Rß1. The frequency of disseminated BCGosis (50% vs. 20%, p=0.29), recurrent infection (83.3% vs. 40%, p=0.14) and salmonellosis (33.3% vs. 0.0%, p=0.07) was higher in IL12Rß1 deficient subjects than IL12Rß1 sufficient individuals. CONCLUSION: MSMD patients with childhood onset of mycobacteriosis (mostly after BCG vaccination) and recurrent salmonellosis could be evaluated for IL12Rß1 expression with flow cytometry for punctual diagnosis.
Subject(s)
Herpes Simplex/immunology , Immunologic Deficiency Syndromes/immunology , Mutation/genetics , Mycobacterium Infections, Nontuberculous/immunology , Mycobacterium bovis/immunology , Receptors, Interleukin-12/genetics , Simplexvirus/physiology , Adolescent , Child , Child, Preschool , Female , Genetic Predisposition to Disease , Herpes Simplex/genetics , Humans , Immunologic Deficiency Syndromes/genetics , Infant , Male , Mycobacterium Infections, Nontuberculous/genetics , Prospective Studies , Receptors, Interleukin-12/metabolismSubject(s)
Common Variable Immunodeficiency/genetics , Janus Kinase 3/genetics , Mutation , Severe Combined Immunodeficiency/genetics , Age of Onset , Child, Preschool , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/enzymology , Common Variable Immunodeficiency/immunology , DNA Mutational Analysis , Fatal Outcome , Genetic Predisposition to Disease , Humans , Immunologic Tests , Infant , Male , Phenotype , Predictive Value of Tests , Risk Factors , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/enzymology , Severe Combined Immunodeficiency/immunology , T-Lymphocytes/enzymology , T-Lymphocytes/immunology , Time FactorsABSTRACT
No disponible
Subject(s)
Humans , Male , Female , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/immunology , Janus Kinase 3 , Janus Kinase 3/immunology , Mutation/genetics , Janus Kinase 3/deficiency , Janus Kinase 3/isolation & purification , CD4-Positive T-Lymphocytes , CD4 AntigensSubject(s)
Humans , Male , Female , Child , Adolescent , Common Variable Immunodeficiency/diagnosis , Common Variable Immunodeficiency/etiology , Histocompatibility Testing/instrumentation , Histocompatibility Testing/methods , Histocompatibility Testing , IgA Deficiency/immunology , Common Variable Immunodeficiency/immunologyABSTRACT
Intravenous immunoglobulin (IVIG) replacement therapy improves health-related quality of life in patients with a primary immunodeficiency disease, although there have been reports of adverse reactions associated with its regular administration. The study population was composed of 99 patients with primary antibody deficiencies. All the patients were diagnosed with a primary immunodeficiency disease and received at least 4 infusions of IVIG at the Children's Medical Center Hospital, Tehran, Iran over a 13-year period (1995-2007). A total of 3004 infusions were recorded, and 216 (7.2%) of these were associated with adverse reactions in 66 patients. Adverse reactions were classified as mild (172 reactions), moderate (41 reactions), and severe (3 reactions). The rate of adverse reaction varied by diagnosis from 3.35% in patients with X-linked agammaglobulinemia to 17.4% in IgG subclass deficiency. There were no age-related differences in the rates of adverse reactions. Adverse reactions to IVIG infusions are occasionally encountered; therefore, physicians and nurses should be aware of these reactions in order to manage and prevent them.
