In a group of 83 anti HIV-1 positive subjects the antibody response against different structural viral proteins was investigated concurrently with assessment of p 24 antigenaemia. Disappearance of antibodies against the capsidal antigen p 24 was recorded in 12% of 42 patients with ARC and AIDS. On the other hand, these antibodies persisted in all 41 asymptomatic infections throughout the three-year investigation period. Disappearance of antibodies against p 17 antigen was proved in 41% of the patients and in 22 subjects without clinical symptoms. The authors found a rising trend of antigenaemia p 24 in the course of HIV infection. The free p 24 antigen was detected in 62% patients with AIDS and only in 10% asymptomatic infections. The investigation confirmed the importance of investigations of the antibody response and p 24 antigenaemia in the prognosis of development of HIV infection and in monitoring of the effect of therapy.

• MeSH
• AIDS imunologie   MeSH
• dospělí MeSH
• genové produkty gag - virus lidské imunodeficience MeSH
• genové produkty gag analýza   MeSH
• HIV antigeny analýza   MeSH
• HIV korový protein p24 MeSH
• HIV protilátky analýza   MeSH
• HIV-1 imunologie   MeSH
• komplex příbuzný AIDS imunologie   MeSH
• lidé MeSH
• peptidy analýza   MeSH
• proteiny virového jádra analýza   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Názvy látek
• genové produkty gag - virus lidské imunodeficience MeSH
• genové produkty gag MeSH
• HGP-30 peptide, Human immunodeficiency virus-1 MeSH Prohlížeč
• HIV antigeny MeSH
• HIV korový protein p24 MeSH
• HIV protilátky MeSH
• peptidy MeSH
• proteiny virového jádra MeSH

• MeSH
• dospělí MeSH
• lidé MeSH
• syndromy imunologické nedostatečnosti terapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

• MeSH
• dospělí MeSH
• lidé MeSH
• syndromy imunologické nedostatečnosti diagnóza   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

Jeffrey Modell Foundation centers' network activities in Central and Eastern Europe (JMF CEE) have contributed to the development of care for patients with primary immunodeficiencies. On the data continuously collected from individual centers in participating countries since 2011, we demonstrate a steady improvement in a number of aspects concerning complex care for patients with primary immunodeficiencies. The presented data show an improvement of awareness about these rare diseases across the whole Central and Eastern European region, an increase in newly diagnosed patients as well as genetically confirmed cases, earlier establishment of diagnosis, and improved access to clinical treatment. We also present an active patient involvement that is reflected in the expansion of patient organization centers and their activities. The cooperation within the JMF CEE network has also contributed to greater international exposure of participating centers and further to the gradual development of research activities in the rapidly evolving field of primary immunodeficiencies. The improvement of all important aspects of the complex field of primary immunodeficiencies within the JMF CEE network documents the strength and advantages of the joint and coordinated networking.

• Klíčová slova
• Awareness, Diagnosis, Education, Jeffrey Modell Centers Network, Jeffrey Modell Foundation, Primary immunodeficiency, Treatment,
• MeSH
• lidé MeSH
• primární imunodeficience diagnóza   epidemiologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• východní Evropa epidemiologie   MeSH

• Klíčová slova
• diagnosis, flow cytometry, functional studies, immunophenotyping, primary immunodeficency,
• MeSH
• imunofenotypizace metody   MeSH
• lidé MeSH
• primární imunodeficience diagnóza   MeSH
• průtoková cytometrie metody   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• úvodní články MeSH
• úvodníky MeSH

The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in RAG1 or RAG2 (n = 4, two of them presented with Omenn syndrome), IL2RG (n = 4, one of them with confirmed maternal engraftment), NHEJ1 (n = 1), CD3E (n = 1), ADA (n = 1), JAK3 (n = 3, two of them with maternal engraftment) and DCLRE1C (n = 1) and 11 other PID patients had diverse molecular defects [ZAP70 (n = 1), WAS (n = 2), PNP (n = 1), FOXP3 (n = 1), del22q11.2 (DiGeorge n = 4), CDC42 (n = 1) and FAS (n = 1)]. In addition, 44 healthy controls in the same age group were analyzed using the SCID-RTE tube in four EuroFlow laboratories using a standardized 8-color approach. RTE were defined as CD62L+CD45RO-HLA-DR-CD31+ and the activation status was assessed by the expression of HLA-DR+. Naïve CD8+ T-lymphocytes and naïve CD4+ T-lymphocytes were defined as CD62L+CD45RO-HLA-DR-. With the SCID-RTE tube, we identified patients with PID by low levels or absence of RTE in comparison to controls as well as low levels of naïve CD4+ and naïve CD8+ lymphocytes. These parameters yielded 100% sensitivity for SCID. All SCID patients had absence of RTE, including the patients with confirmed maternal engraftment or oligoclonally expanded T-cells characteristic for Omenn syndrome. Another dominant finding was the increased numbers of activated CD4+HLA-DR+ and CD8+HLA-DR+ lymphocytes. Therefore, the EuroFlow SCID-RTE tube together with the previously published PIDOT tube form a sensitive and complete cytometric diagnostic test suitable for patients suspected of severe PID (SCID or CID) as well as for children identified via newborn screening programs for SCID with low or absent T-cell receptor excision circles (TRECs).

• Klíčová slova
• EuroFlow, diagnosis, flow cytometric immunophenotyping, primary immunodeficiencies (PID), severe combined immune deficiency (SCID), standardization,
• MeSH
• HLA-DR antigeny analýza   MeSH
• imunofenotypizace metody   MeSH
• kojenec MeSH
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• primární imunodeficience diagnóza   imunologie   MeSH
• průtoková cytometrie metody   MeSH
• T-lymfocyty imunologie   MeSH
• těžká kombinovaná imunodeficience imunologie   MeSH
• thymus imunologie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• HLA-DR antigeny MeSH

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.

Primary antibody deficiency (PAD) is a condition where the immune system doesn’t work properly, making it hard for the body to fight infections. To stay healthy, people with PAD need regular doses of a medication called immunoglobulin (IgG), which helps strengthen the immune system. This medication can be given in two main ways: through a vein (intravenously, or IVIG) or under the skin (subcutaneously, or SCIG). SCIG has some important benefits. It can be given at home, making it easier for patients to fit treatment into their daily lives. SCIG also causes fewer side effects compared to IVIG. Patients can choose when to take SCIG, making it more flexible and convenient. This article explains how doctors and patients can work together to make SCIG fit into each person’s lifestyle. Flexibility can make treatment less stressful and help patients stick to their treatment plan. One type of SCIG, called SCIG 16.5%, can be taken daily, weekly, every 2 weeks, or multiple times a week as long as the total monthly dose stays the same. Flexible ways to use SCIG are safe and effective and can help people manage their treatment leading to better health over time.

• Klíčová slova
• Cutaquig, Immunoglobulin replacement therapy, patient-centric, primary antibody deficiency disease, shared decision-making, subcutaneous immunoglobulin,
• MeSH
• individualizovaná medicína MeSH
• injekce subkutánní MeSH
• lidé MeSH
• pasivní imunizace * metody   MeSH
• péče orientovaná na pacienta MeSH
• primární imunodeficience * terapie   MeSH
• subkutánní infuze MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

BACKGROUND: Common variable immunodeficiency (CVID) is characterized by an impaired postvaccination response, high susceptibility to respiratory tract infections, and a broad spectrum of noninfectious complications. Thus, patients with CVID may be at high risk for COVID-19, and vaccination's role in prevention is questionable. OBJECTIVE: We evaluated the clinical outcomes, safety, and dynamics of humoral and T-cell immune responses induced by the mRNA vaccine BNT162b2 in CVID. METHODS: This prospective observational cohort study focused on the clinical outcomes (proportion of infected patients and disease severity), safety (incidences of adverse events and changes in laboratory parameters), and dynamics of humoral (specific postvaccination and virus-neutralizing antibody assessment) and T-cell immune responses (anti-SARS-CoV-2-specific T-cell detection) in 21 patients with CVID after a two-dose administration of BNT162b2. The patients were observed for 6 months. RESULTS: Humoral response was observed in 52% of patients (11 of 21) at month 1 after vaccination but continuously decreased to 33.3% at month 6 (five of 15). Nevertheless, they had a remarkably lower anti-SARS-CoV-2 neutralizing antibody titer compared with healthy controls. The T-cell response was measurable in 46% of patients with CVID (six of 13) at month 1 and persisted over the study period. Mild infection occurred in three patients within the follow-up period (14.3%). The vaccine also exhibited a favorable safety profile. CONCLUSIONS: The BNT162b2 vaccine elicited a measurable antibody response in a high proportion of patients, but it was limited by low titer of virus-neutralizing antibodies and rapid waning of anti-receptor-binding domain SARS-CoV-2-specific antibodies. T-cell response was detected in one-third of patients and remained stable within the follow-up period. Vaccination has favorable safety and clinical-related outcomes in preventing severe COVID-19.

• Klíčová slova
• COVID-19, Common variable immunodeficiency, Immunogenicity, Post-vaccination response, Safety, mRNA vaccine,
• MeSH
• běžná variabilní imunodeficience * MeSH
• COVID-19 * prevence a kontrola   MeSH
• lidé MeSH
• neutralizující protilátky MeSH
• primární imunodeficience * MeSH
• prospektivní studie MeSH
• protilátky blokující MeSH
• protilátky virové MeSH
• SARS-CoV-2 MeSH
• vakcína BNT162 MeSH
• vakcíny * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• práce podpořená grantem MeSH
• Názvy látek
• neutralizující protilátky MeSH
• protilátky blokující MeSH
• protilátky virové MeSH
• vakcína BNT162 MeSH
• vakcíny * MeSH

Guidelines for screening for primary immunodeficiencies (PID) are well-defined and several consensus diagnostic strategies have been proposed. These consensus proposals have only partially been implemented due to lack of standardization in laboratory procedures, particularly in flow cytometry. The main objectives of the EuroFlow Consortium were to innovate and thoroughly standardize the flowcytometric techniques and strategies for reliable and reproducible diagnosis and classification of PID of the lymphoid system. The proposed EuroFlow antibody panels comprise one orientation tube and seven classification tubes and corresponding databases of normal and PID samples. The 8-color 12-antibody PID Orientation tube (PIDOT) aims at identification and enumeration of the main lymphocyte and leukocyte subsets; this includes naïve pre-germinal center (GC) and antigen-experienced post-GC memory B-cells and plasmablasts. The seven additional 8(-12)-color tubes can be used according to the EuroFlow PID algorithm in parallel or subsequently to the PIDOT for more detailed analysis of B-cell and T-cell subsets to further classify PID of the lymphoid system. The Pre-GC, Post-GC, and immunoglobulin heavy chain (IgH)-isotype B-cell tubes aim at identification and enumeration of B-cell subsets for evaluation of B-cell maturation blocks and specific defects in IgH-subclass production. The severe combined immunodeficiency (SCID) tube and T-cell memory/effector subset tube aim at identification and enumeration of T-cell subsets for assessment of T-cell defects, such as SCID. In case of suspicion of antibody deficiency, PIDOT is preferably directly combined with the IgH isotype tube(s) and in case of SCID suspicion (e.g., in newborn screening programs) the PIDOT is preferably directly combined with the SCID T-cell tube. The proposed ≥8-color antibody panels and corresponding reference databases combined with the EuroFlow PID algorithm are designed to provide fast, sensitive and cost-effective flowcytometric diagnosis of PID of the lymphoid system, easily applicable in multicenter diagnostic settings world-wide.

• Klíčová slova
• EuroFlow, classification, diagnosis, flow cytometry, immunodeficiency, immunophenotyping, standardization,
• MeSH
• B-lymfocyty imunologie   MeSH
• dítě MeSH
• dospělí MeSH
• imunologická paměť imunologie   MeSH
• kojenec MeSH
• leukocyty imunologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfocyty imunologie   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• plazmatické buňky imunologie   MeSH
• předškolní dítě MeSH
• primární imunodeficience diagnóza   imunologie   MeSH
• průtoková cytometrie metody   MeSH
• senioři MeSH
• T-lymfocyty imunologie   MeSH
• těžká kombinovaná imunodeficience diagnóza   imunologie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2-3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies.

• Klíčová slova
• PIK3CD, PIK3R1, activated phosphoinositide 3-kinase δ syndrome, natural history, rapamycin, registry,
• MeSH
• dítě MeSH
• dospělí MeSH
• fosfatidylinositol-3-kinasy třídy I MeSH
• imunosupresiva terapeutické užití   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• předškolní dítě MeSH
• primární imunodeficience MeSH
• registrace * MeSH
• sirolimus terapeutické užití   MeSH
• společnosti lékařské MeSH
• syndromy imunologické nedostatečnosti farmakoterapie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• fosfatidylinositol-3-kinasy třídy I MeSH
• imunosupresiva MeSH
• sirolimus MeSH