scholarly journals Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients

2018 ◽  
Vol 32 ◽  
pp. 205873841877945 ◽  
Author(s):  
Neslihan Edeer Karaca ◽  
Ezgi Ulusoy Severcan ◽  
Burcu Guven Bilgin ◽  
Elif Azarsiz ◽  
Sanem Akarcan ◽  
...  
Keyword(s):  
Common Variable Immunodeficiency ◽  
Laboratory Data ◽  
Immunoglobulin A ◽  
Familial Cases ◽  
First Degree Relatives ◽  
Age Related ◽  
Familial Inheritance ◽  
Risk Of Progression ◽  
Tract Infections ◽  
Common Variable

Common variable immunodeficiency (CVID) and immunoglobulin A deficiency (IgAD) are the most prevalent primary immunodeficiency disorders. High rates of familial inheritance have been described in CVID and IgAD, but it is unknown in different ethnic populations. We aimed to determine the prevalence of familial cases and whether they showed more severe clinical characteristics than sporadic ones in Turkish patients. A total of 40 CVID and 70 IgAD patients and their 251 first-degree relatives (FDRs) were evaluated. Demographic, clinical, and laboratory data were reviewed. A familial case was defined as a patient with at least one affected FDR (A-FDR). The rate of parental consanguinity was 19.1%. There were 37 familial cases (37/110) (33.6%) with at least one A-FDR. There were 48 A-FDRs who had immunoglobulins lower than age-related normals (48/251) (19.1%). Pulmonary infections were significantly higher in familial cases. To our knowledge, this study includes the highest number of CVID/IgAD patients and their FDRs in literature. Familial cases are at least 30% of the IgAD and CVID patients, and they have more frequent lower respiratory tract infections than sporadic ones, so these patients have to be evaluated depending on their being familial or sporadic for better management. The risk of carrying any immunologic alterations in relatives of patients with IgAD and CVID is approximately 20%. Although most A-FDRs are asymptomatic, considering the risk of progression to CVID by age, we highly recommend routine screening for FDRs.

scholarly journals Salmonella typhi vaccination response study reveals defective antibody production selective IgA deficiency patient

2015 ◽  
Vol 62 (4) ◽  
pp. 318-322
Author(s):  
Daniel E Pleguezuelo ◽  
Carla Gianelli
Keyword(s):  
Antibody Response ◽  
Antibody Production ◽  
Tetanus Toxoid ◽  
Common Variable Immunodeficiency ◽  
Salmonella Typhi ◽  
Iga Deficiency ◽  
Upper Respiratory Tract ◽  
Selective Iga Deficiency ◽  
Tract Infections ◽  
Common Variable

Selective IgA deficiency (SIgAD) is the most prevalent immunodeficiency worldwide, progressing to common variable immunodeficiency only in few reported cases. We report the case of a Spanish female aged 22 and diagnosed of selective IgA deficiency, a long history of bronchitis, several episodes of pneumonia, bilateral bronchiectasis, normal IgG, IgM, IgG subclasses, and detectable pre-vaccination IgG antibodies against tetanus toxoid and Streptococcus pneumoniae. She was evaluated in our clinic in order to rule out common variable immunodeficiency. We observed good antibody response to tetanus toxoid, absence of circulating switched memory B cells, decreased response to pneumococcal polysaccharide antigens and a lack of response to Salmonella typhi vaccine. Most SIgAD patients presents with upper respiratory tract infections or mild diarrhea. Those with lower tract infections, pneumonia or untreatable diarrhea should follow B-cell subpopulations’ study and antibody response to vaccines. Absence of response to Salmonella typhi vaccine allowed us to expose the defective antibody production.

Oral Conditions in Individuals With Selective Immunoglobulin A Deficiency and Common Variable Immunodeficiency

1992 ◽  
Vol 63 (12) ◽  
pp. 984-989 ◽  
Author(s):  
Gunilla Norhagen Engström ◽  
Per-Erik Engström ◽  
Lennart Hammarström ◽  
C.I. Edvard Smith
Keyword(s):  
Common Variable Immunodeficiency ◽  
Immunoglobulin A ◽  
Oral Conditions ◽  
Common Variable

scholarly journals Chronic meningococcaemia and immunoglobulin A deficiency

2010 ◽  
Vol 59 (11) ◽  
pp. 1375-1378 ◽  
Author(s):  
Arnaud Theulin ◽  
Murielle Rondeau-Lutz ◽  
Cornelia Kuhnert ◽  
Julien Boileau ◽  
Jean-Christophe Weber
Keyword(s):  
B Cells ◽  
Neisseria Meningitidis ◽  
Common Variable Immunodeficiency ◽  
Clinical Presentation ◽  
Immunoglobulin A ◽  
Iga Deficiency ◽  
Memory B Cells ◽  
Igm Deficiency ◽  
Common Variable

Chronic meningococcaemia is an unusual clinical presentation of Neisseria meningitidis infection. We describe the case of a patient, who presented with total IgA deficiency and partial IgM deficiency with a low switched memory B cells count, suggestive of a borderline form of common variable immunodeficiency (CVID). The role of IgA in the protection against Neisseria meningitidis, and the link between IgA deficiency and CVID are discussed.

scholarly journals Common Variable Immunodeficiency and Autoimmune Diseases: A Retrospective Study of 95 Adult Patients in a Single Tertiary Care Center

2021 ◽  
Vol 12 ◽  
Author(s):  
Ilaria Mormile ◽  
Alessandra Punziano ◽  
Carlo Alberto Riolo ◽  
Francescopaolo Granata ◽  
Michela Williams ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Common Variable Immunodeficiency ◽  
Autoimmune Hemolytic Anemia ◽  
Tertiary Care ◽  
Laboratory Data ◽  
T Helper Cell ◽  
Helper Cell ◽  
T Helper ◽  
Cell Counts ◽  
Common Variable

Common variable immunodeficiency (CVID) is the most common clinically significant primary immunodeficiency in adulthood, which presents a broad spectrum of clinical manifestations, often including non-infectious complications in addition to heightened susceptibility to infections. These protean manifestations may significantly complicate the differential diagnosis resulting in diagnostic delay and under-treatment with increased mortality and morbidity. Autoimmunity occurs in up to 30% of CVID patients, and it is an emerging cause of morbidity and mortality in this type of patients. 95 patients (42 males and 53 females) diagnosed with CVID, basing on ESID diagnostic criteria, were enrolled in this retrospective cohort study. Clinical phenotypes were established according to Chapel 2012: i) no other disease-related complications, ii) cytopenias (thrombocytopenia/autoimmune hemolytic anemia/neutropenia), iii) polyclonal lymphoproliferation (granuloma/lymphoid interstitial pneumonitis/persistent unexplained lymphadenopathy), and iv) unexplained persistent enteropathy. Clinical items in the analysis were age, gender, and clinical features. Laboratory data included immunoglobulin (Ig)G, IgM and IgA levels at diagnosis, flow-cytometric analysis of peripheral lymphocytes (CD3+, CD3+CD4+, CD3+CD8+, CD19+, CD4+CD25highCD127low, CD19hiCD21loCD38lo, and follicular T helper cell counts). Comparisons of continuous variables between groups were performed with unpaired t-test, when applicable. 39 patients (41%) showed autoimmune complications. Among them, there were 21 females (53.8%) and 18 males (46.2%). The most prevalent autoimmune manifestations were cytopenias (17.8%), followed by arthritis (11.5%), psoriasis (9.4%), and vitiligo (6.3%). The most common cytopenia was immune thrombocytopenia, reported in 10 out of 95 patients (10.5%), followed by autoimmune hemolytic anemia (n=3, 3.1%) and autoimmune neutropenia (n=3, 3.1%). Other autoimmune complications included thyroiditis, coeliac disease, erythema nodosum, Raynaud’s phenomenon, alopecia, recurring oral ulcers, autoimmune gastritis, and primary biliary cholangitis. There were no statistically significant differences comparing immunoglobulin levels between CVID patients with or without autoimmune manifestations. There was no statistical difference in CD3+, CD8+, CD4+CD25highCD127low T, CD19, CD19hiCD21loCD38lo, and follicular T helper cell counts in CVID patients with or without autoimmune disorders. In conclusion, autoimmune manifestations often affect patients with CVID. Early recognition and tailored treatment of these conditions are pivotal to ensure a better quality of life and the reduction of CVID associated complications.

Sign in / Sign up

Export Citation Format

Share Document