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Purpose: To quantify the health related quality of life in primary immunodeficiency patients., Materials and Methods: We used generic health status and general psychological health questionnaires to determine the range of issues that needed to be considered in examining the burden of common variable immunodeficiency (CVID)., Results: The health status of patients with CVID was lower than that observed in normal subjects. Overall, Role-Physical and General Health scales correlated with a poorer clinical status. Surprisingly, the duration of disease did not influence health status. Being female, older, General Health Questionnaire-positive and alexithymic proved to be major risk factors associated with a poor health status. Patients with chronic lung disease and chronic diarrhea had the lowest values on the Medical Outcome Study, Short Form SF-36 (SF-36) scales. Disease severity perception was associated with the General Health Questionnaire and alexithymia status. Limitations in daily activities as a result of lower physical health were the major problems facing common variable immunodeficiency patients., Conclusion: Our data underlined the importance of conducting a periodical health related quality of life assessment on patients with primary antibody deficiencies and, moreover, stressed the necessity of providing psychological support to at risk patients.

Background: Patients with common variable immunodeficiency (CVID) suffer from respiratory infections leading over time to permanent lung damage. Increased radiosensitivity has been described, and clinicians should consider a risk-benefit assessment when ordering a CT scan, in that the exact level of "safe" radiation exposure is unknown., Methods: Twenty-one patients with CVID were evaluated with chest CT scan, MRI, and pulmonary function tests on the same day. MRI protocol included a T2-weighted rotating blade-like k-space covering sequence (time repetition, 2,000; echo train = 27; field of view, 400 mm; flip angle, 150; slice thickness, 5 mm) on axial and coronal planes. The bronchial and parenchymal abnormalities were compared with those identified by CT scan applying a modified Bhalla scoring system to assess bronchiectasis, bronchial wall thickening, number of bronchial generations involved, mucous plugging, consolidations, emphysema, bullae, and nodules., Results: CT scan and MRI findings were comparable for moderate to severe degrees of bronchial and parenchymal alterations. A low concordance was found between MRI and CT scan for lower scores of bronchial abnormalities. CT scan allowed a better identification of peripheral airways abnormalities., Conclusions: Lung alterations in patients with higher radiation sensitivity, such as patients with CVID, might be evaluated by MRI, a radiation-free technique alternative to CT scan.

A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently <400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level <7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.

Introduction: The multicenter prospective study provides information on adverse reactions to intravenous and subcutaneous immunoglobulin treatment in a cohort of 262 patients with common variable immunodeficiency. Severe adverse reactions are a rare but unpredictable event that might occur also in patients who tolerate substitutive intravenous or subcutaneous immunoglobulin therapy for months or years., Results: Subcutaneous therapy has been proved to be a safe option in the 13 patients who had to stop intravenous treatment and who remained out of immunoglobulin replacement for long periods of time. However, severe reactions to subcutaneous therapy occurred at the first or after several subcutaneous immunoglobulin administrations in 2 out of 13 patients., Conclusion: Therefore, patients with previous severe reactions to intravenous immunoglobulin should be considered at particularly high risk for reaction to subcutaneous administration. In these cases, switching from in-hospital administration to home self-administration should be done with extreme care.

The conserved serine residues S866 and S870 are the major phosphorylation sites essential for the processing of p100 to p52 in cells. Keywords: Common Variable Immunodeficiency (CVID); NFKB2; novel pathogenic gene variants; lym1 mice; hypogammaglobulinaemia; autoimmunity EN Common Variable Immunodeficiency (CVID) NFKB2 novel pathogenic gene variants lym1 mice hypogammaglobulinaemia autoimmunity 1159 1164 6 07/20/23 20230801 NES 230801 Kruthika Sundaram and Micol Ferro contributed equally to this work. The reduction of p100 processing was linked to a markedly less increased phosphorylation of p100 in Patient 1 compared to the controls - which is likely caused by the absence of S870 in the p100 truncated form (p.Tyr868*). The two major phospho-serines (S866 & S870) create a binding site for -TrCP, the receptor subunit of the E3 ubiquitin ligase -TrCP SP SCF sp , which mediates p100 ubiquitination and its proteasomal-dependent processing to p52 employing the p100 ubiquitin acceptor site lysine 855 [[3]]. [Extracted from the article]