Human Immunodeficiency Research Articles

Customizing subcutaneous immunoglobulin administration in primary antibody deficiency: patient-centric care perspectives.

This report delves into the challenges and potential solutions associated with flexible, customized subcutaneous immunoglobulin (SCIG) infusion regimens for patients with primary antibody deficiency disease (PAD). Advances in the treatment of inborn errors of immunity, particularly PAD, have converted fatal diseases into chronic, complex, long-term conditions that make adherence to treatment a critical issue. Conventional SCIG infusion regimens, while clinically effective, may not always align with the varied lifestyles, changing lifestyles and commitments of patients which can lead to missed doses, diminishing adherence thus posing potential health risks and compromising the overall effectiveness of treatment. For these reasons, it's important to develop flexible infusion regimens tailored to meet individual patient needs. Patient-centric strategies that promote shared decision-making and awareness of patient status not only promote medical efficacy but also enhance the overall patient experience. The authors of this report call attention for a need to shift toward more adaptable and individualized SCIG treatment plans for PAD patients whose needs may change over the long-term course of treatment.

Empowering a Limpopo rural community to Integrate Ubuntu in caring for PLWHIV/AIDS or TB.

Globally, few studies were conducted mostly in Africa on Ubuntu and human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). These studies did not incorporate empowering communities on integrating Ubuntu HIV/AIDS or tuberculosis (TB). As such, this study used empowerment as a tool to raise awareness in the community about how they can integrate Ubuntu when caring for people living with HIV (PLWHIV)/AIDS or TB. This study aimed to empower community members to use Ubuntu philosophy when caring for PLWHIV/AIDS or TB in the rural community of Limpopo province. An integrative qualitative research design was used in which data were collected through a workshop with participants. The population was unemployed matriculants, traditional health professionals and community healthcare workers who were purposefully sampled and divided into eight groups. Data were collected through a focus group discussion and analysed using content analysis. Ethical considerations and measures to ensure trustworthiness were followed. Integrating Ubuntu philosophy can reduce stigma, discrimination and lack of disclosure. This might be achieved through humanity, attitude changing and formation of a support group. The principles of Ubuntu (caring, sharing, support, humility, attitude change) came up strongly in preventing stigma and discrimination in the care of PLWHIV/AIDS or TB.Contribution:Community empowerment and integration of Ubuntu philosophical values might have a positive impact on improving the social status of PLWHIV or TB, their families and the community at large.

Spatio-temporal analysis of pulmonary tuberculosis in Astambul District, South Kalimantan, Indonesia 2020-2021

Respiratory tuberculosis (TB) remains a significant global health concern and ranks among the top 10 leading causes of death worldwide, following human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). Globally, it is estimated that 1.2 billion people are at risk of being infected with tuberculosis, and Indonesia is the country that contributes the third-highest number of TB cases worldwide, behind China and India. Tuberculosis is still a significant issue in South Kalimantan, notably in Banjar Regency. This study is a descriptive study that intends to identify respiratory TB clusters spatially and temporally in Astambul District during 2020–2021 with the SatScan application, which is visualized as a map of respiratory TB clusters using the Quantum GIS 3.28 application. Data on respiratory TB cases collected from the Banjar District Health Office were examined using retrospective space-time scan statistics, employing a Poisson probability model for analysis. This study found 4 respiratory TB clusters, and 2 of them had significant results, namely in 2020 (RR=6.90, p-value=0.000030) and 2021 (RR=5.27, p-value=0.00003). Factors that affect these clusters are population density, the physical condition of houses, humidity levels, and the availability of health facilities.

Pulmonary Computed Tomography Screening Frequency in Primary Antibody Deficiency.

Pulmonary Computed Tomography Screening Frequency in Primary Antibody Deficiency.

Survival of People Living with HIV/AIDS from Pre-ART Era to Treat-all Era - China, 1985-2022.

A comprehensive analysis of nationwide survival trends for people living with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS, PLWHA) from the initial reported case to present has not been conducted. This study evaluated the survival outcomes of PLWHA reported in China from 1985 to 2022. We analyzed data from PLWHA recorded in the National HIV/AIDS Comprehensive Response Information Management System from 1985 to 2022. Survival rates were calculated using Kaplan-Meier curves, and factors associated with survival time were analyzed using Cox proportional hazard models. Progressive relaxation of antiretroviral therapy initiation criteria led to significant improvements in survival rates across different diagnostic periods in China. The 1-year and 5-year cumulative survival rates increased from 85.2% and 66.1% in the 1985-2003 cohort to 91.1% and 81.4% in the 2016-2022 cohort. Cox proportional hazard analysis revealed elevated mortality risks among males, individuals aged ≥65 years, those with injection drug use or other transmission routes, hospital-tested patients, and those with lower CD4 counts at diagnosis or without treatment. Antiretroviral therapy has effectively reduced mortality risk among PLWHA in China. Future efforts should focus on expanding HIV testing to reduce the proportion of late diagnoses with lower CD4 counts and providing targeted, differentiated services for older populations to further decrease mortality risk among PLWHA.

The RAG1 Mutation Presenting as Early Onset SLE in an Iranian Patient

It has been established that mutations of the Recombinase Activating Genes (RAG1 and RAG2) are responsible for classic T-B-NK+ severe combined immunodeficiency (SCID). On the other hand, it has now become evident that certain mutations within these genes can also lead to other forms of combined immunodeficiency, antibody deficiency, and even autoimmunity. In this report, we present a case involving a 9-month-old female patient who presents with clinical and laboratory findings indicative of systemic lupus erythematosus (SLE). Following the diagnosis of early- onset SLE and considering the presence of concurrent infections, it was considered necessary to investigate potential underlying monogenic disorders associated with inborn errors of immunity. Immunological evaluations demonstrated a combined immunodeficiency and whole exome sequencing confirmed that the patient has a mutation in the RAG1 gene.

Multiple keratotic papulonodular lesions in a human immunodeficiency virus‐negative patient

Multiple keratotic papulonodular lesions in a human immunodeficiency virus‐negative patient

Characteristics of patients with low serum IgE levels and selective IgE deficiency: Data from an immunodeficiency referral center

Low immunoglobulin E (IgE) levels are defined as values below 2.5 IU/mL. Selective IgE deficiency (sIgED) refers to reduced serum IgE levels in patients with normal IgA/G/M levels. We evaluated 677 patients with low IgE levels. Recurrent infections (78.8 %), a history of allergy (27.3 %), and autoimmune/inflammatory diseases (18.3 %) are common. The primary immunodeficiency disease (PID) (n = 483, 71.3 %) diagnoses include 313 (46.2 %) patients with antibody deficiency and 119 (17.6 %) with combined immunodeficiency. Genetic pathogenic variants were present in 154 out of 207 PID patients. Within sIgED group, 23 (19.8 %) had primary immunodeficiencies. We observed a high prevalence of autoimmune/inflammatory diseases, allergies, malignancies, and PID among patients with low IgE levels. Therefore, clinicians should be vigilant when evaluating patients with low IgE levels, as this finding may indicate an underlying systemic disease or PID.

Competency of Jeffrey Modell Foundation warning signs and routine laboratory tests in suspecting primary immunodeficiencies: A cross-sectional multi-centric prospective study from eastern India.

To test the efficaciousness of the 10 warning signs of Jeffrey Modell Foundation (JMF) and routine laboratory tests in predicting Primary Immunodeficiencies (PIDs). Hospitalized children <12 years age satisfying at least two of 10 warning signs were subjected to routine and confirmatory tests. Of 35 204 admitted patients, 66 satisfied the JMF criteria and 34 had PID. Also, 59% were infants, with a female preponderance. The most common immunodeficiency disorder group were antibody deficiencies and phagocyte defects (35.3%). Chronic granulomatous disease (CGD) was the commonest overall (29.4%). The need for intravenous antibiotics was the most sensitive (91%) criterion for predicting PID. When combined with positive family history of PID, sensitivity (94%) increased further. The two most specific indicators were recurrent ear infections (88%), and family history of PID (88%). The best positive predictor was family history of PID (69%), and the best negative predictor was recurrent sinus infections (58%). Significant association was found between persistent oral thrush and PID (p .043), and insufficient weight gain and antibody deficiencies (p .037). Absolute neutrophil count, CRP, and elevated ESR were also significantly associated with PIDs (p-values being .036, .011, and .014 respectively). Out of all 10 JMF criteria, the three most important ones to predict PID were need for IV antibiotics, family history of PID, and recurrent ear infections.

The Association of Comorbidities With Total Knee Arthroplasty Healthcare Utilization

Patients undergoing total knee arthroplasty (TKA) tend to have various comorbidities such as obesity, hypertension, and cancer, which are partially associated with their advanced age. This study aimed to elucidate the associations of these comorbidities with hospital charge (HC), hospital costs (HCo), and length of stay (LOS). A national database was queried for patients who underwent primary TKA from 2012 to 2020. There were 30 comorbidities classified using the Elixhauser Comorbidity Index. For each comorbidity of interest, patients were matched to another patient by age, sex, and all other comorbidities except the comorbidity of interest. Matched cohorts were analyzed via multivariable regression analyses controlled for age, sex, procedure year, hospital location, and comorbidities to predict increases in HC, HCo, and LOS. A total of 1,014,831 patients were included. Mean HC, HCo, and LOS were $64,097, $17,299, and 2.5 days, respectively. Weight loss, blood loss anemia, coagulopathies, and fluid and electrolyte disorders were associated with the largest increases in HC, with 6, 5, 5, and 5% increases, respectively (P < 0.05). Pulmonary hypertension, non-metastatic tumors, paralysis, and obesity were associated with increased HCo, with 6, 4, 4, and 4% increases, respectively (P < 0.05). All comorbidities except hypothyroidism were associated with increased LOS. Pulmonary hypertension, weight loss, paralysis, fluid and electrolyte disorders, and human immunodeficiency virus/acquired immunodeficiency syndrome were associated with were associated with 53, 21, 15, 14, and 12%, respectively, increased odds of having LOS greater than or equal to four days' increase (P < 0.05). This study offers targets for the reduction of HC, HCo, and LOS for patients with these modifiable and non-modifiable ailments through protocol change. Optimization programs targeting malnourished patients, patients with pulmonary hypertension, and other comorbidities are encouraged. These results also provide clinicians with a quantifiable way to communicate financial burden and recovery time after TKA to patients' unique problem lists.

Current Practice and Perspectives on Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Antibody Deficiency Among Specialized Nurses in Poland.

Inborn errors of immunity (IEI) encompass various congenital disorders, resulting in immunity defects and recurrent infections. Home-based subcutaneous immunoglobulin replacement therapy (scIgRT) is the best treatment option for those with primary antibody deficiency (PAD). However, the lack of standardized procedures in patient training remains a challenge. Our study investigates nurses' practice and perspectives, aiming to identify areas for improvement in at-home scIgRT practice. We prepared a structured survey regarding scIgRT, including needle choice experience and perception of adverse events, and distributed it among qualified nurses involved in patient training and scIgRT supervising. We included 56 nurses with a median age of 50 years. Among them, 67.9% represented adult care providers, while 32.1% supervised IgRT in children. Most respondents (83.9%) used the classic or assisted with hyaluronidase scIgRT preparations. Single-channel needles were administered most commonly (85.7%). The needle length was mostly chosen solely by a nurse (57.1%) or in cooperation with the patient (23.2%). Next, 9 mm and 12 mm needles were used most often (92.9% and 78.6%, respectively). As expected, the 6 mm needle was more frequently applied for children compared to adults (n = 16, 88.9% vs. n = 11, 28.9%, p < 0.001), while 12 mm was primarily used in adults (n = 35, 92.1% vs. n = 9, 50.0%, p < 0.001). Visual skin fold assessment was the basis for the needle selection (58.9%), followed by the injection site rule (26.8%) or a choice between two available needle types for thinner or thicker patients (25.0%). Results of this survey indicate that, according to nurses' opinions presented in this survey, the needle length could be associated with local scIgRT adverse events, such as side needle leakage or local burning. Yet, it was likely unrelated to general adverse signs, such as headaches or dizziness. Most respondents (66.1%) indicated that, even if local adverse events occur, patients are reluctant to change scIgRT preparation or needle length. Most participants (69.6%) reported that the optimal administration technique needs to be discussed with the patient before and during scIgRT. This study sheds light on scIgRT practice in Poland, emphasizing deficiency in needle selection technique. Future research should focus on standardized training and advanced needle selection procedures on patient outcomes, investigating the correlation between needle strategies and adverse events, as well as the effectiveness of scIgRT.

COVID-19-related organising pneumonia in patients with secondary antibody deficiency responds to immune globulin

COVID-19-related organising pneumonia in patients with secondary antibody deficiency responds to immune globulin

Impact of systemic diseases on oral health and facial surgery outcomes

Systemic diseases have a profound influence on oral health and maxillofacial surgical outcomes, presenting challenges that require comprehensive management. Diabetes mellitus is a prominent example, with its impact on periodontal health and healing processes being well-established. Elevated blood glucose levels in diabetic patients impair immune response, reduce collagen synthesis, and delay wound healing, increasing the risk of periodontitis and postoperative complications following surgical interventions such as dental implants. Similarly, cardiovascular diseases exacerbate the inflammatory response linked to periodontal disease, potentially worsening both oral health and systemic conditions, thus complicating the recovery process after maxillofacial surgery. These patients often face heightened risks of infections and slower healing, partly due to the frequent use of anticoagulant medications, which can interfere with surgical procedures. Immunocompromised individuals, such as those with human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) or undergoing chemotherapy, also experience significant oral health challenges, including higher susceptibility to oral infections and delayed tissue repair. Reduced immune function and mucosal integrity make it difficult for these patients to recover effectively after maxillofacial surgery, increasing the risk of complications such as infection and wound dehiscence. Moreover, osteoporosis, a systemic condition characterized by reduced bone density, affects the success of dental implants and bone grafting procedures. The decreased bone quality in osteoporotic patients compromises the ability to achieve stable osseointegration, leading to higher implant failure rates and additional surgical challenges. Addressing these complex interactions between systemic health and oral conditions requires an interdisciplinary approach, integrating medical and dental care to enhance treatment outcomes. Proper management of systemic diseases, along with individualized dental and surgical protocols, is essential to improving the prognosis for patients with concurrent systemic and oral health issues.

Bartonella endocarditis: lessons learnt from an African cohort

Abstract Background Bartonella (B) quintana endocarditis is a preventable, vector-borne, and important cause of blood culture-negative endocarditis (BCNE). The ESC guideline for the management of endocarditis recommends blood serology (IgG titer ≥800) and polymerase chain reaction (PCR) testing on both blood and valvular tissue for diagnosis. Access to these molecular technologies is limited in Africa and there is a paucity of B. quintana endocarditis research on the continent. Purpose Record the clinical picture and explore the risk factors for disease and the diagnostic utility of immunofluorescence (IFA) in PCR-proven cases with B. quintana endocarditis. Methods Data were analysed from a prospective observational cohort study of patients with infective endocarditis managed at our institution. All BCNE cases from October 2019 to January 2024 were evaluated to identify patients with PCR-proven B. quintana on valvular tissue. A commercially available IFA was used for blood serology testing. 16S rRNA PCR testing with sequencing was performed on valvular tissue. Results Thirty five of the 58 cases (60.3%) with BCNE were diagnosed with Bartonella endocarditis. A diagnosis of PCR-proven B. quintana endocarditis was made in 21 cases. Of these, seven patients (33.3%) were either homeless or lived in informal housing. Thirteen patients (61.9%) had an alcohol-use disorder. Four patients (19%) were Human Immunodeficiency (HIV) virus- positive. Eighteen patients (85.7%) reported the onset of symptoms more than two weeks before presentation. Common presenting symptoms were dyspnea (n=21;100%), loss of weight (n=10;47.6%) and fever (n=7;33.3%). Common clinical features were digital clubbing (n=17;80.9%), pallor (n=13; 61.9%), microscopic haematuria (n=12; 57.1%) and severe regurgitant lesions (n=21; 100%). Blood serology was available in 17 patients with an IgG titer (1≥256) in all patients apart from one (1:64). Only one case (5.8%) had an IgG titre ≥800. The most common isolated valve lesion on echocardiography was severe aortic regurgitation (n=10;47.6%). Surgical replacement and repair were performed in 17(80.9%) and 4(19%) patients respectively. The one-, three- and six-month mortality was 14%, 14 % and 14% respectively. No cases of relapse were reported. Discussion B.quintana is the most prevalent cause of BCNE in our centre. The typical clinical and echocardiographic profile was consistent with the reported literature of a destructive endocarditis in a patient with a low socioeconomic background. Despite this, the surgical outcome is fair and comparable to European data. The IFA used in this study is different to the assay referenced in the ESC guideline and may explain the relatively low serology titres observed (despite PCR-proven disease). Further study with the commercial IFA is needed to determine a cut-off titre that will give a comparable sensitivity to the referenced in-house IFA.Destructive aortic valve endocarditisResultant severe aortic regurgitation

Calculated globulin can be used as a screening test for antibody deficiency in children and adolescents.

Calculated globulin (CG, total protein minus albumin levels) correlate well with IgG levels and has been proposed as a suitable screening method for individuals with primary antibody deficiencies (PADs). We aimed to show the correlation of CG with IgG levels in children and adolescents, utilizing a common method for albumin measurement, bromocresol green. Individuals from two Allergy and Immunology clinics were invited to participate. Inclusion criteria were age < 18, stable conditions, and signed informed consent. We included 1084 individuals. Immunoglobulin G values were determined by immunoturbidimetry; the colorimetric bromocresol green method and the Architect Biuret method were utilized for the albumin and total protein (TP) measurements, respectively. A total of 1084 individuals were included in the analysis and divided into 4 age groups (0 to <1 year, 1 to <4 years, 4 to <10 years, and 10 to <18 years). For all patients, the mean age was 6.1 (± 5) years old, the mean IgG was 9.4 (± 4.7) g/L, and CG was 23.7 (± 5.9) g/L. The most frequent diagnosis were respiratory allergies, followed by inborn errors of immunity. IgG and CG varied according to age group. Cutoff values for hypogammaglobulinemia varied from 13.8 g/L in children < 1 year to 23.1 g/L in children and adolescents aged 10 to <18 years. CG sensitivity varied from 70.9% in children aged 1 to <4 years old to 95.8% in children 4 to <10. Specificity ranged from 87.5% in children 4 to <10 years old to 100% in children and adolescents aged 10 to <18 years. CG is a suitable screening test for hypogammaglobulinemia in children less than 18 years of age.

Contribution of immunoglobulin products in influencing seasonal influenza infection and severity in antibody immune deficiency patients receiving immunoglobulin replacement therapy.

Seasonal and pandemic influenza infection present a potential threat to patients with antibody deficiency. The acceptance and effect of the current recommendation for annual vaccination against influenza for patients with antibody deficiency is not well investigated and due to antigenic drift or shift the protective capacity of regular IgG replacement therapy (IgRT) is considered low. This narrative review considers the effect of influenza vaccination in immunodeficient patients and discusses available information on the effect of immunoglobulin products on seasonal influenza infectivity and severity in antibody deficiency patients receiving IgRT. The humoral immune response to seasonal influenza vaccination is reduced in patients with antibody immune deficiency. However, there is no evidence that the proportion of patients with primary antibody deficiency who develop influenza illness, and the severity of such illness, is increased when compared with the general population. The IgRT that patients receive has been shown to contain neutralizing antibodies as a consequence of past flu infections against both the hemagglutinin and neuraminidase surface proteins and other viral internal proteins of different influenza A virus strains. Studies have demonstrated not only significant levels of specific but also cross-reactive antibodies against seasonal influenza virus strains. Thus, despite the yearly changes in influenza viral antigenicity that occur, IgRT could potentially contribute to the protection of patients against seasonal influenza. Currently, only limited clinical data are available confirming a preventative effect of IgRT with respect to seasonal influenza infection. In conclusion, there is some evidence that IgRT could contribute to protection against seasonal influenza in patients with antibody-related immunodeficiency. However, additional clinical data are needed to confirm the extent and relevance of this protection and identify the main responsible virus targets of that protection.

The Latin American Society for Immunodeficiencies Registry.

Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008. Data was collected from participating centers from Apr 13, 2009, to Dec 31, 2022, and included demographic, clinical, and follow-up information. Results - A total of 9307 patients were included in the database. At the end of the study period, 8,805 patients were alive or lost to follow-up, and 502 were deceased. The most common type of IEI was predominantly antibody deficiency (PAD, 60.35%), and selective IgA deficiency was the most frequent diagnosis (1627 patients, 17.48%), followed by Common Variable Immune Deficiency (CVID, 1191 patients). Most patients (78.16%) were ≤ 18 years old at inclusion, and the median age at diagnosis was 4.77 years. The median time to diagnosis was 5.04 years. Antibiotics were prescribed in 32.3% of visits, followed by immunoglobulins (29.49% ). Hematopoietic stem cell transplantation was performed in 5.03% of patients. Omenn syndrome was the most common disease in deceased patients, with a mortality rate of 52.63%. Conclusion - This study contributes to our understanding of IEIs in Latin America and highlights the importance of early diagnosis, appropriate treatments, and improved data collection to optimize patient outcome.

Evaluation and treatment of rhinosinusitis with primary antibody deficiency in children: Evidence-based review with recommendations.

There is clear evidence that prevalence of primary antibody deficiency (PAD) is higher in children with chronic rhinosinusitis (CRS) than in the general population. The purpose of this multi-institutional and multidisciplinary evidence-based review with recommendations (EBRR) is to thoroughly review the literature on rhinosinusitis with PAD, summarize the existing evidence, and provide recommendations on the evaluation and management of rhinosinusitis in children with PAD. The PubMed, Embase, and Cochrane databases were systematically reviewed from inception through December 2023. Studies on the evaluation and management of rhinosinusitis in PAD patients were included. An iterative review process was utilized in accordance with EBRR guidelines. Levels of evidence and recommendations on the evaluation and management principles for PAD were generated. A total of 50 studies were included in this evidence-based review. These studies were evaluated on the incidence of PAD in rhinosinusitis patients, the incidence of rhinosinusitis in PAD patients, and on the different treatment modalities used and their outcome. The aggregate quality of evidence varied across the reviewed domains. Based on the currently available evidence, the incidence of PAD in children with recalcitrant CRS can be significantly elevated. Despite the presence of multiple studies addressing rhinosinusitis and PAD, the level of evidence supporting different treatment options continues to be lacking. Optimal management requires a multidisciplinary approach through collaboration with clinical immunology. There is need for higher level studies that compare different treatments in children with PAD and rhinosinusitis.

Predominantly antibody deficiencies: An important underlying cause of recurrent pneumonia in adults

RATIONALE Limited information exists concerning the causes of recurrent pneumonia in adults, particularly regarding immunodeficiencies or inborn errors of immunity. OBJECTIVES This study aims to evaluate the etiology of recurrent pneumonia in the adult population, with a focus on humoral deficiency and inborn errors of immunity. METHODS A cross-sectional non-interventional study was conducted in Cali, Colombia, from January 2019 to March 2021. Consecutive patients, aged over 14 years but under 65 years, with a history of recurrent pneumonia, were included after providing consent. The study involved a thorough review of their past medical records and radiological studies. All participants underwent complete blood count and serum immunoglobulin level measurements (IgG, IgA, IgM and IgE). Further testing was carried out based on the evaluation of a clinical immunologist. RESULTS Sixty-six (66) individuals, comprising 34 females and 32 males, were enrolled in the study. The onset of symptoms occurred at an average age of 14 years (ranging from 5 to 36 years). The analysis revealed that the most prevalent cause of recurrent pneumonia was inborn errors of immunity (20 cases, 30.3%), followed by idiopathic (9 cases, 13.7%), bronchiectasis (7 cases, 10.7%), primary ciliary dyskinesia (6 cases, 9.0%), asthma (6 cases, 9.0%), and post-tuberculosis complications (5 cases, 7.6%). CONCLUSION Predominantly antibody deficiencies, along with other inborn errors of immunity, were identified as an important factor contributing to recurrent pneumonia in adults. These findings highlight the importance of these conditions as major etiological factors in the context of recurrent pneumonia in the Colombian adult population.

Efficacy and safety of TPO receptor agonists in treatment of ITP associated with predominantly antibody deficiencies

AbstractPredominantly antibody deficiencies have an estimated prevalence of >1 in 25 000. Their classical phenotype entails the association of autoimmune manifestations with increased susceptibility to infections. Up to 8% of these patients ultimately develop immune thrombocytopenic purpura (ITP). Reducing the risk for infections and considering nonimmunosuppressive treatments, such as thrombopoietin receptor agonists (TPO-RAs), are important considerations for these patients. This nationwide retrospective case series assessed the outcomes and safety of TPO-RAs as treatment for ITP in adults diagnosed with predominantly antibody deficiencies. Response and complete response to treatment were defined as platelet count reaching 30 × 109/L and 100 × 109/L, respectively. We analyzed data from 28 patients. The median follow-up time after introduction of the first TPO-RAs was 33 months (range, 2 weeks to 10.6 years). After 6 weeks of follow-up, response was achieved in 24 of the 28 patients (85.7%), and among those, 21 patients (75%) displayed a complete response. At the last available follow-up visit, only 7 patients (25%) needed second-line therapies for ITP, and among those, only 5 patients (17.9%) received immunosuppressants. Only 3 patients (10.7%) reported laboratory-confirmed hepatobiliary adverse events of light or mild severity and 3 patients (10.7%) reported thrombotic events. In conclusion, TPO-RAs seemed to be an effective and safe option of treatment in these case series. Our results suggest that eltrombopag or romiplostim should be considered as second-line therapy for ITP related to predominantly antibody deficiencies.