The study aimed to reveal for the first time the clinical characteristics, nutritional and metabolic status and support of hospitalized patients with common variant immunodeficiency disease (CVID), and provide reference to improve the long-term nutritional management for such patients. This is a retrospective cross-sectional study. Through searching the electronic medical record system of Peking Union Medical College Hospital, the study included 33 consecutive in-patients with CVID diagnosed in Jan 2016 to Jun 2021, with the male to female ratio of 16∶17. All their medical data, nutritional assessment and intervention retrospectively summarized and analyzed. Data with normal distribution were described using (x¯±s), and analyzed with independent sample t-test. Data with non-normal distribution were compared with non-parametric test. The results showed that the median onset-age of the included patients was 22 (10.0,36.5) years old, and the median duration was 9.0 (2.0,16.0) years. All patients had recurrent infections involving various systems (33/33), with development of autoimmune diseases (8/33) and lymphoproliferative disease or malignancy (9/33) in some cases among them. The nutritional risk screening 2002 (NRS 2002) scores revealed that 85.19% of adults had an NRS 2002≥3 points, and 33.33% of children had a BMI-for-age z score<-2. Weight loss occurred in 66.67% of patients (22/33), while 87.88% (29/33), 69.70% (23/33) and 81.82% (27/33) of patients respectively had anemia, hypoalbuminemia and decreased prealbumin. Among 22 patients with micronutrients status evaluated, 77.27% (17/22), 22.73% (5/22) and 31.82% (7/22) of patients respectively had lowered serum iron, folate deficiency and vitamin B12 insufficiency. Six patients underwent 25-OH-VD₃ measurement, and were all testified to have vitamin D deficiency. Among all patients with nutritional risk, 56.00% of them underwent nutritional support: oral nutritional supplements (14 cases), enteral feeding (4 cases) and parenteral nutrition (5 cases). In conclusion, the condition of malnutrition was prevalent in patients with CVID, but was under-recognized and undertreated to some degree.
Adult ; Child ; Humans ; Female ; Male ; Common Variable Immunodeficiency ; Nutritional Status ; Retrospective Studies ; Cross-Sectional Studies ; Malnutrition

The study aimed to reveal for the first time the clinical characteristics, nutritional and metabolic status and support of hospitalized patients with common variant immunodeficiency disease (CVID), and provide reference to improve the long-term nutritional management for such patients. This is a retrospective cross-sectional study. Through searching the electronic medical record system of Peking Union Medical College Hospital, the study included 33 consecutive in-patients with CVID diagnosed in Jan 2016 to Jun 2021, with the male to female ratio of 16∶17. All their medical data, nutritional assessment and intervention retrospectively summarized and analyzed. Data with normal distribution were described using (x¯±s), and analyzed with independent sample t-test. Data with non-normal distribution were compared with non-parametric test. The results showed that the median onset-age of the included patients was 22 (10.0,36.5) years old, and the median duration was 9.0 (2.0,16.0) years. All patients had recurrent infections involving various systems (33/33), with development of autoimmune diseases (8/33) and lymphoproliferative disease or malignancy (9/33) in some cases among them. The nutritional risk screening 2002 (NRS 2002) scores revealed that 85.19% of adults had an NRS 2002≥3 points, and 33.33% of children had a BMI-for-age z score<-2. Weight loss occurred in 66.67% of patients (22/33), while 87.88% (29/33), 69.70% (23/33) and 81.82% (27/33) of patients respectively had anemia, hypoalbuminemia and decreased prealbumin. Among 22 patients with micronutrients status evaluated, 77.27% (17/22), 22.73% (5/22) and 31.82% (7/22) of patients respectively had lowered serum iron, folate deficiency and vitamin B12 insufficiency. Six patients underwent 25-OH-VD₃ measurement, and were all testified to have vitamin D deficiency. Among all patients with nutritional risk, 56.00% of them underwent nutritional support: oral nutritional supplements (14 cases), enteral feeding (4 cases) and parenteral nutrition (5 cases). In conclusion, the condition of malnutrition was prevalent in patients with CVID, but was under-recognized and undertreated to some degree.
Adult ; Child ; Humans ; Female ; Male ; Common Variable Immunodeficiency ; Nutritional Status ; Retrospective Studies ; Cross-Sectional Studies ; Malnutrition

Common Variable Immunodeficiency/genetics* ; Humans ; Janus Kinase 3/genetics* ; Mutation ; Severe Combined Immunodeficiency

OBJECTIVE: To investigate the clinical and immunological characteristics, treatment and prognosis of common variable immune deficiency (CVID) in adult patients. METHODS: We retrospectively analyzed the clinical data of 13 adult patients hospitalized in our hospital for CVID diagnosed according to the criteria in International Consensus Document (2016), and analyzed their clinical manifestations, laboratory test results, imaging findings, pathological examinations and treatments. RESULTS: The mean age of onset was 24.46±16.82 years in these patients, who had a mean age of 32.54±14.86 years at diagnosis with a median diagnostic delay of 5 years (IQR: 2-15 years). The main manifestation of the patients was repeated infections, including repeated respiratory tract infection (10 cases; 76.9%) and repeated diarrhea (3 cases; 23.1%). Three (23.1%) of the patients had autoimmune disease and 10 (76.9%) had chronic pulmonary disease. IgG, IgA and IgM were decreased in all the patients. The proportion of CD4+T cells decreased in 10 patients (76.9%), CD8+T cells increased in 11 patients (84.6%), and CD4/ CD8 decreased in 10 patients (76.9%). Complement C3 decreased in 58.3% (7/12) and C4 decreased in 33.3% (4/12) of the patients. Twelve patients (92.3%) were treated with intravenous infusion of gamma globulin with symptomatic treatments. One patient died due to massive gastrointestinal hemorrhage, and the other patients showed improve ments after the treatments and were discharged. CONCLUSIONS The clinical manifestations of CVID are diverse, and recurrent respiratory tract infection is the most common manifestation. Decreased IgG often accompanied by lowered IgA and IgM levels is a common finding in laboratory tests. The treatment of CVID currently relies on gamma globulin with symptomatic treatments for the complications.
Adolescent ; Adult ; Autoimmune Diseases ; Child ; Common Variable Immunodeficiency ; Delayed Diagnosis ; Humans ; Immunoglobulins, Intravenous ; Middle Aged ; Retrospective Studies ; Young Adult

No abstract available.
Common Variable Immunodeficiency* ; Lymphoma, T-Cell* ; T-Lymphocytes*

Common variable immunodeficiency (CVID) is a heterogeneous group of primary immune deficiencies in adults characterized by hypogammaglobulinemia, recurrent bacterial infections, and a higher incidence of autoimmune diseases. More than 25% of CVID patients also have autoimmune diseases such as autoimmune hemolytic anemia, immune thrombocytopenic purpura, rheumatoid arthritis, and systemic lupus erythematosus. However, the pathogenesis of autoimmunity in CVID remains obscure. We report a 56-year-old woman with CVID and Sjogren's syndrome. In addition to a long history of recurrent upper respiratory infections, acute gastroenteritis, and cellulitis, she has also suffered from persistent xerostomia and xerophthalmia for the past 10 years. Serologic studies revealed hypogammaglobulinemia (low levels of IgG, IgA, and IgM in serum) and the presence of anti-Ro antibodies, and salivary scintigraphy indicated salivary gland involvement. These findings led to a diagnosis of CVID and Sjogren's syndrome, which was treated by monthly intravenous immunoglobulin therapy.
Adult ; Agammaglobulinemia ; Anemia, Hemolytic, Autoimmune ; Antibodies ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Autoimmunity ; Bacterial Infections ; Cellulitis ; Common Variable Immunodeficiency* ; Diagnosis ; Female ; Gastroenteritis ; Humans ; Immunization, Passive ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Incidence ; Lupus Erythematosus, Systemic ; Middle Aged ; Purpura, Thrombocytopenic, Idiopathic ; Radionuclide Imaging ; Respiratory Tract Infections ; Salivary Glands ; Sjogren's Syndrome* ; Xerophthalmia ; Xerostomia

A twenty-year-old male was diagnosed with common variable immunodecifiency (CVID) according to decreased blood level of immunoglobulins along with a history of recurrent sinopulmonary infection since early childhood, no response to prior vaccination, and the absence of all other defined immunodeficiency. Eleven months after the initiation of intravenous immunoglobulin replacement, he presented with petechiae on both lower legs for three weeks. Bone marrow exam was conducted as pancytopenia was not resolved over a month and severe aplastic anemia was diagnosed. Allogenic stem cell transplantation (Allo-SCT) with reduced intensity conditioning (RIC) enabled both a clinical resolution from propensity to infection with an appropriate production of immunoglobulins and a successful rescue of hematopoiesis. This report suggests that Allo-SCT using RIC is a potentially curable option in patients with CVID complicated by SAA if adequate efforts to minimize Allo-SCT-related complications are accompanied.
Anemia, Aplastic* ; Bone Marrow ; Common Variable Immunodeficiency* ; Hematopoiesis ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulins ; Leg ; Male ; Pancytopenia ; Purpura ; Stem Cell Transplantation* ; Stem Cells* ; Vaccination

BACKGROUNDCommon variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency syndromes. The purpose of this article was to broaden our knowledge about CVID for better diagnosis and treatment.

METHODSClinical and immunological features of 40 Chinese patients with CVID were analyzed retrospectively.

RESULTSThe median age at onset was 11-year-old (range 4-51 years). The median age at diagnosis was 14.5-year-old (range 5-66 years). The average time of delay in diagnosis was 5.3 years (range 1-41 years). The most common main complaint was fever due to infections (35 cases, 87.5%). Pneumonia (28 cases, 70%) was the most common type of infections. Bronchiectasis was present in 6 patients (15%). Autoimmune disease was detected in 6 cases of CVID, and malignancy in 2 cases. The median total serum levels of IgG, IgA, and IgM at diagnosis were 1.07 g/L, 0.07 g/L, and 0.28 g/L, respectively. The percentages of CD3- /CD19 + B-cells were 1%-3.14%.

CONCLUSIONSInfection is the most frequent presentation of CVID. Patients with unexplainable infections should receive further examination including serum immunoglobulin (Ig) and lymphocyte subset analysis. Regular and sufficient substitution with Ig is recommended.

Adolescent ; Adult ; Aged ; Bronchiectasis ; drug therapy ; immunology ; pathology ; Child ; Child, Preschool ; China ; Common Variable Immunodeficiency ; drug therapy ; immunology ; pathology ; Humans ; Immunoglobulins ; metabolism ; Immunoglobulins, Intravenous ; Middle Aged ; Young Adult

No abstract available.
Adrenal Cortex Hormones/*therapeutic use ; Azathioprine/*therapeutic use ; Biopsy ; Chronic Disease ; Colonoscopy ; Common Variable Immunodeficiency/complications/diagnosis/*drug therapy ; Diarrhea/diagnosis/*drug therapy/etiology ; Drug Therapy, Combination ; Female ; Humans ; Immunoglobulins, Intravenous/*therapeutic use ; Prednisone/*therapeutic use ; Treatment Outcome ; Weight Loss/drug effects ; Young Adult

We herein present the case of a 55-year-old woman with a previous history of malignancies--uterine adenocarcinoma, basal cell carcinoma (which occurred twice consecutively), recurrent respiratory infections due to common variable immunodeficiency (CVID), and systemic granulomatous disease diagnosed at a later age. The patient suffered from diffuse large B cell lymphoma (DLBCL), which was successfully treated with R-CHOP chemotherapy, and continued with immunoglobulin supplementation. The patient was free of lymphoma and infectious complications for over 20 months despite her persistent immunodeficiency, but eventually developed colorectal adenocarcinoma. To the best of our knowledge, this is the first reported case of CVID associated with multiple solid tumours and DLBCL.
Adenocarcinoma ; etiology ; Carcinoma, Basal Cell ; etiology ; Common Variable Immunodeficiency ; complications ; diagnosis ; therapy ; Fatal Outcome ; Female ; Humans ; Lymphoma, Large B-Cell, Diffuse ; etiology ; Middle Aged ; Neoplasms, Multiple Primary ; etiology ; pathology ; therapy ; Respiratory Tract Infections ; etiology ; Skin Neoplasms ; etiology ; Uterine Neoplasms ; etiology