Primary immunodeficiency in adults is thought to be underestimated in Korea. IgG subclass deficiency, defined as a deficiency at least among the 4 subtypes of IgG subclass, IgG1, IgG2, IgG3, and IgG4, results in recurrent infections, in which IgG3 subclass deficiency (IgGSD) is the most commonly found in adult asthmatic patients. Herein, we report 2 cases of familial IgG3SD. In family 1, a female patient aged 17 years with allergic rhinitis (AR) had recurrent upper respiratory infections (URIs), and gastroenteritis. Her mother aged 50 with AR had recurrent URI, otitis media, urinary tract infection, gastroenteritis, and oral ulcer. A younger sister aged 9 years with AR and asthma had recurrent URI almost all the year round. The serum IgA level was found to be lower than the normal level in her mother and the patient, and IgG3 was decreased in the patient and her sister. The IgG3 level of mother showed within the lower normal limit. In family 2, the mother aged 39 years with nonallergic rhinitis had recurrent URI and oral ulcer. Her son aged 16 years and daughter aged 13 years with AR and asthma had recurrent URI, resulting in uncontrolled asthma. Family 2 was found to be IgG3 deficiency in mother and son, and IgA deficiency in son. The IgG3 level of daughter was within the lower normal level. Mother and the first daughter in family 1 as well as mother and son in family 2 was treated with intravenous immunoglobulin, and their recurrent URI reduced. We reported 2 cases of familial IgG3SD.
Adult ; Asthma ; Female ; Gastroenteritis ; Humans ; IgA Deficiency ; Immunoglobulin A ; Immunoglobulin G* ; Immunoglobulins ; Korea ; Mothers ; Nuclear Family ; Oral Ulcer ; Otitis Media ; Respiratory Tract Infections ; Rhinitis ; Rhinitis, Allergic ; Siblings ; Urinary Tract Infections

Every cell of an organism is separated and protected by a cell membrane. It is proposed that harmony between intercellular communication and the health of an organism is controlled by a system, designated the protein-homeostasis-system (PHS). Kidneys consist of a variety of types of renal cells, each with its own characteristic cell-receptor interactions and producing characteristic proteins. A functional union of these renal cells can be determined by various renal function tests, and harmonious intercellular communication is essential for the healthy state of the host. Injury to a kind of renal cells can impair renal function and induce an imbalance in total body health. Every acute or chronic renal disease has unknown etiologic substances that are responsible for renal cell injury at the molecular level. The immune/repair system of the host should control the etiologic substances acting against renal cells; if this system fails, the disease progresses to end stage renal disease. Each renal disease has its characteristic pathologic lesions where immune cells and immune proteins, such as immunoglobulins and complements, are infiltrated. These immune cells and immune proteins may control the etiologic substances involved in renal pathologic lesions. Also, genetic renal diseases and cancers may originate from a protein deficiency or malfunctioning protein under the PHS. A unified pathogenesis for renal diseases, including acute glomerulonephritis, idiopathic nephrotic syndrome, immunoglobulin A nephropathy, genetic renal diseases such as Alport syndrome, and malignancies such as Wilms tumor and renal cell carcinoma, is proposed using the PHS hypothesis.
Carcinoma, Renal Cell ; Cell Membrane ; Complement System Proteins ; Glomerulonephritis ; Glomerulonephritis, IGA ; Hydrogen-Ion Concentration ; Immunoglobulins ; Kidney Diseases* ; Kidney Failure, Chronic ; Kidney* ; Nephritis, Hereditary ; Nephrotic Syndrome ; Protein Deficiency ; Renal Insufficiency, Chronic ; Wilms Tumor

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.
Anemia, Iron-Deficiency ; Antibodies ; Celiac Disease* ; Child ; Compliance ; Diagnosis ; Diet, Gluten-Free ; Edema ; Female ; Follow-Up Studies ; Glutens ; Humans ; IgA Deficiency ; Jordan* ; Liver ; Pediatrics ; Prevalence ; Retrospective Studies ; Rickets ; Rural Population

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.
Anemia, Iron-Deficiency ; Antibodies ; Celiac Disease* ; Child ; Compliance ; Diagnosis ; Diet, Gluten-Free ; Edema ; Female ; Follow-Up Studies ; Glutens ; Humans ; IgA Deficiency ; Jordan* ; Liver ; Pediatrics ; Prevalence ; Retrospective Studies ; Rickets ; Rural Population

UNLABELLEDObjective：To calculate the prevalence of IgAD in a replicate cohort of the Chinese Han population in Shanghai area by screening blood donors and to study the genetic difference of IgAD individuals in the Mongoloid population.

METHODSThe prevalence of IgAD in a large number of Chinese blood donors (n=61624) in Shanghai area was investigated. The immunoglobulin class, IgG subclass and anti-IgA serum levels were measured among the IgAD donors. These donors were subsequently tissue typed and the allele frequency was compared with the Shanghai bone marrow donor HLA registry.

RESULTSThirty-one IgAD blood donors were identified, giving a prevalence of 1:2000(31/61624). Most IgAD donors had serum IgG levels above the normal range with no major IgG subclass deficiency and 3 donors was positive for anti-IgA. Two-thirds of the IgAD donors carried Caucasian IgAD associated risk haplotypes, including DRB1*0301-DQB1*0201, DRB1*0701-DQB1*020 and DRB1*0102-DQB1*0501, giving a significantly higher frequency of these haplotypes as compared to the Shanghai bone marrow donor HLA registry.

CONCLUSIONThe prevalence of IgAD in Chinese Han population is markedly lower than that in Caucasians. The low prevalence of IgAD can potentially be due to the low frequency of the disease associated risk haplotypes in China. However, potential risks exist in performing blood transfusion to IgAD persons, and measures should be taken to reduce IgA anaphylaxis. Meanwhile, it is necessary to set up a Shanghai rare blood bank of IgAD donor for patients to meet the needs of IgA-poor transfusion.

Alleles ; Antibodies, Anti-Idiotypic ; Asian Continental Ancestry Group ; Blood Donors ; Blood Transfusion ; China ; Gene Frequency ; Haplotypes ; Humans ; IgA Deficiency ; Immunoglobulin A ; Immunoglobulin G ; Prevalence

BACKGROUND: The association between type 1 diabetes and immunoglobulin A deficiency (IgA-D) has long been recognized in many populations. The aim of this study was to assess the prevalence of IgA-D in patients with type 1 diabetes mellitus all coming from a defined geographical area and to investigate the clinical features of these subjects. METHODS: The records of 150 consecutive patients with type 1 diabetes mellitus referred in a period of one year were analyzed. A detailed history was obtained for each patient. Information was collected concerning age, gender, time of onset of diabetes, and presence of other autoimmune diseases. RESULTS: Out of 150 patients with type 1 diabetes, eight (5.3%) had a diagnosis of IgA-D. There were one female and seven male; all these patients were diagnosed by screening: none of them had history of recurrent infections. Autoimmune thyroiditis was coexisting in five patients (62%). Although other associated autoimmune disorders were found in a number of patients, there was no different prevalence rate in IgA deficient patients. CONCLUSION: This study shows the prevalence of IgA-D in Sicilian patients with type 1 diabetes as 5.3% which is much higher than reported in other Italian studies. Moreover, our data show a high prevalence of IgA-D in male gender and describe thyroiditis as the most frequent autoimmune disease present in these patients. Finally, in our case report, IgA-D diagnosis always followed routine IgA measurement when case finding for celiac disease with no history of recurrent infections in each patient.
Autoimmune Diseases ; Celiac Disease ; Cross-Sectional Studies* ; Diabetes Mellitus, Type 1* ; Diagnosis ; Female ; Humans ; IgA Deficiency ; Immunoglobulin A* ; Male ; Mass Screening ; Prevalence ; Thyroid Gland ; Thyroiditis ; Thyroiditis, Autoimmune

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.
Adolescent ; Agammaglobulinemia/congenital/epidemiology ; Age Distribution ; Child ; Child, Preschool ; Common Variable Immunodeficiency/epidemiology ; Female ; Genetic Diseases, X-Linked/epidemiology ; Humans ; IgA Deficiency/epidemiology ; IgG Deficiency/epidemiology ; Immunologic Deficiency Syndromes/*epidemiology ; Infant ; Infant, Newborn ; Job's Syndrome/epidemiology ; Male ; Prevalence ; Questionnaires ; Registries ; Republic of Korea/epidemiology ; Severe Combined Immunodeficiency/epidemiology ; Sex Distribution ; Wiskott-Aldrich Syndrome/epidemiology ; Young Adult

OBJECTIVETo study the method for establishing a quantization diagnostic standard for immunoglobulin A (IgA) nephropathy of qi-yin deficiency syndrome (QYDS).

METHODS1,016 patients with primary IgA nephropathy were recruited in this study. They were randomly assigned to the training sample group (344 cases of QYDS and 456 cases of non-QYDS) and the testing sample group (77 cases of QYDS and 139 cases of non-QYDS) using SPSS software. On the basis of epidemiological survey, the typing standards for QYDS and common clinical symptoms were taken as candidate correlated factors. The correlated factors were selected using binary Logistic stepwise regression. The correlated factors were scored using conditional probability conversion method. The threshold value of the quantization diagnostics was determined using maximum likelihood method. The receiver operating characteristic (ROC) curve was drawn to calculate the area under curve (AUC), sensitivity, specificity, and accuracy rating. The retrospective and prospective tests were performed on the established quantization diagnostic standard for QYDS.

RESULTSThe quantization diagnosis threshold value of IgA nephropathy of QYDS was 12 points. The sensitivity, specificity, and accuracy rating of the quantization diagnostic standard were 75.3%, 68.0%, and 71.1% in the retrospective test, as well as 60.4%, 84.4%, and 69.0% in the prospective tests. The AUC was 0.80 and 0.78 respectively.

CONCLUSIONSIt was a feasible method to set up a quantization diagnostic standard for IgA nephropathy of QYDS by taking the occurrence frequency of symptoms. But this method failed to cover the strength information of symptoms.

Adolescent ; Adult ; Aged ; Area Under Curve ; Child ; Female ; Glomerulonephritis, IGA ; diagnosis ; Humans ; Logistic Models ; Male ; Medicine, Chinese Traditional ; methods ; standards ; Middle Aged ; Qi ; ROC Curve ; Sensitivity and Specificity ; Software ; Yin Deficiency ; Young Adult

PURPOSE: Primary immunodeficiency diseases are rare, innate defects of the immune system. Prompt diagnosis can lead to life-saving treatment and improvement in quality of life. We described the clinical features of primary immunodeficiency diseases which had been diagnosed in our institution during for 18 years. METHODS: Twenty-five patients diagnosed with primary immunodeficiency diseases were analyes in terms of their ages at diagnosis, presenting characteristics, types of primary immunodeficiency diseases and clinical courses. We retrospectively reviewed their medical records between 1990 and 2007 in Busan National University, Busan, Korea. RESULTS: Twenty males and 5 females were studied. Ages at diagnosis were variable, but 15 patiens (60%) were ages <3 years. The most common symptom was chronic coughing, and 12 patients were initially diagnosed as having bronchitis or pneumonia. Most patients had a past history of recurrent bronchitis, pneumonia or upper respiratory infections. Selective IgA deficiency was found in 11 cases (44%), panhypogammaglobulinemia in 3 cases (12%) and common variable immunodeficiency diseases such as DiGeorge syndrome and chronic granulomatous disease in 2 cases (8%), respectively. IgG4 deficiency and hyper IgE syndrome were found in 1 case, respectively. All patients with panhypogammaglobulinemia were regularly treated with IVIG, 1 patient chronic granulomatous disease was regularly treated with IFN-gamma. In many cases, upper respiratory infections, bronchitis, pneumonia, acute gastroenteritis, urinary tract infection were recurrent. CONCLUSIONS: Primary immunodeficiency diseases should be considered in children with recurrent or severe infections, because early diagnosis and treatment can reduce mortality and morbidity.
Bronchitis ; Child ; Common Variable Immunodeficiency ; Cough ; DiGeorge Syndrome ; Early Diagnosis ; Female ; Gastroenteritis ; Granulomatous Disease, Chronic ; Humans ; IgA Deficiency ; Immune System ; Immunoglobulin G ; Immunoglobulins, Intravenous ; Job's Syndrome ; Male ; Medical Records ; Pneumonia ; Quality of Life ; Respiratory Tract Infections ; Retrospective Studies ; Urinary Tract Infections

Transient hypogammaglobulinemia of infancy (THI) is originally defined as a physiological maturation defect of immunoglobulin G (IgG) production that occurs at 3-6 months of age and lasts until 18 to 36 months of age. We report here on a 22-month-old child with THI and IgA deficiency, who had massive pneumococcal empyema. Her depressed IgG level returned to normal within 6 months, but IgA level was still low at 6 yr of age. Although THI is an age-dependent and self-limiting disorder, severe infection that includes an atypical presentation of an infection may occur in some patients and this requires evaluation with immunologic study.
Agammaglobulinemia/complications/*diagnosis/immunology ; Anti-Bacterial Agents/therapeutic use ; Ceftriaxone/therapeutic use ; Drug Resistance, Bacterial ; Empyema, Pleural/*diagnosis/etiology/radiography ; Female ; Humans ; IgA Deficiency/*diagnosis/immunology ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Infant ; Staphylococcal Infections/*diagnosis/drug therapy/microbiology ; Tomography, X-Ray Computed