Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study

“…In conclusion, the tight interconnection between hematology and immunology is particularly represented by AICs, which underlie an IEI in a not negligible proportion of cases ( 13 ). This study confirms that such relationship is particularly recognizable in PIRDs and further demonstrates the kaleidoscopic presentations of IEI ( 3 ), which undoubtedly need a multidisciplinary approach. While clinical signs and family history are paramount to suspect an underlying IEI, extended immunophenotyping and PCA may potentially act as screening tools to identify patients deserving genetic analyses.…”

“…Inborn errors of immunity (IEI) are an expanding universe of disorders, not only characterized by an infectious diathesis but also displaying a wide variety of other clinical features ( 1 ). Primary Immune Regulatory Disorders (PIRDs) are a relevant subgroup of IEI that is particularly characterized by autoimmune manifestations ( 2 , 3 ). The number of genetic defects belonging to this category has strikingly expanded over time ( 4 ), and atypical manifestations of known PIRDs have progressively been unveiled ( 5 ).…”

“…Indeed, some specific immunological alterations, if accompanied with AIHA, ITP, autoimmune neutropenia (AIN), or their combinations (Evans syndrome, ES) could be significant red flags for an associated IEI ( 13 ). These include both humoral and cell-mediated immune defects, like reduced serum immunoglobulin levels and low T cell counts ( 3 , 12 , 14 , 15 ), while only scant evidence regarding deeper immunological studies in AICs is available ( 16 ).…”

Demographic, Clinical, and Immunological Features in Combined Immunodeficiency Patients with and Without Pulmonary Complications: A Retrospective Multicenter Study from Iran

“…Initial presenting manifestations in most of the patients diagnosed with IEIs are infections and lungs are the most commonly affected organ [9]. In a recent study on 16486 documented patients in the ESID registry, 12741 (77%) patients with variable types of IEIs and 37% of CID patients primarily presented with infectious complications [10]. A French prospective study has shown that respiratory tract infection comprises the leading cause of hospital admission [11], affecting patients' quality of life.…”

Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors

“…Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency, comprising a heterogeneous group of disorders, which all associate with primary antibody production failure ( 1 ). Besides unusual infections, non-infectious manifestations including autoimmunity, autoinflammation, and polyclonal lymphoproliferation can precede the onset of clinically evident immunodeficiency and dominate the phenotype of CVID ( 2 ). According to a recent meta-analysis, the prevalence of malignancy in CVID was 8.6% ( 3 ).…”