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BACKGROUND: The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. OBJECTIVE: To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. METHODS: We built a secure registry database in conjunction with the US Immunodeficiency Network to examine vaccination frequency and indicators of safety and effectiveness in IEI patients. The registry opened on January 1, 2022, and closed on August 19, 2022. RESULTS: Physicians entered data on 1245 patients from 24 countries. The most common diagnoses were antibody deficiencies (63.7%). At least one COVID-19 vaccine was administered to 806 patients (64.7%), and 216 patients received vaccination prior to the development of COVID-19. The most common vaccines administered were mRNA-based (84.0%). Seventeen patients were reported to seek outpatient clinic or emergency room care for a vaccine-related complication, and one patient was hospitalized for symptomatic anemia. Eight hundred twenty-three patients (66.1%) experienced COVID-19 infection. Of these, 156 patients required hospitalization (19.0%), 47 required ICU care (5.7%), and 28 died (3.4%). Rates of hospitalization (9.3% versus 24.4%, p

Background. Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous studies, DADA2 may be manifested by ischemic or hemorrhagic strokes. This disorder also includes various hematological manifestations (pure red cell aplasia, pancytopenia, hemolytic anemia, and pancytopenia with bone marrow involvement). Case Presentation. In this case report, we present the clinical and immunological findings of two unrelated patients with DADA2. The first patient was a 7‐year‐old female who experienced recurrent neurological symptoms such as vertigo, tinnitus, hearing loss, and right‐sided hemiparesis. Her brain magnetic resonance imaging (MRI) revealed a left‐sided stroke, and she responded well to antitumor necrosis factor alpha agents and plasmapheresis. The second patient was a 6‐year‐old female who had recurrent fever and bicytopenia, aphthous lesions, cervical lymphadenopathy, and elevated liver enzymes. We also discussed the strategies used to manage the clinical manifestations in these two DADA2 patients. Conclusion. In this case report, we discussed two cases with DADA2 deficiency and their respective manifestations. The first case showed neurological symptoms while the second case had hematological symptoms. Although there is no established treatment for DADA2 due to its rarity, steroids are commonly used to treat this disorder. Antitumor necrosis factor is also effective in controlling the symptoms, especially the neurological ones. In cases where there is no appropriate response to these treatments, hematopoietic stem cell transplantation can be beneficial. [ABSTRACT FROM AUTHOR]

Introduction. Renal disorders have been reported as the underlying cause as well as complications of critical COVID-19 in pediatric patients. The purpose of this study was to investigate the pattern of kidney involvement, particularly acute kidney injury (AKI), among pediatric patients with COVID-19. Methods. In this prospective study, hospitalized pediatric patients with a clinical diagnosis of COVID-19 were enrolled. Demographic, clinical, and laboratory findings were collected and analyzed using a mixed method of qualitative and quantitative approaches and descriptive statistics. Results. One hundred and eighty-seven patients, including 120 (64.2%) males and 67 (35.8%) females with COVID-19 with a median age (interquartile range) of 60 (24 to 114) months were enrolled in this study. Most patients (n = 108, 58.1%) had one or two underlying comorbidities, mainly malnutrition (77.4%), neurologic/learning disorders (21.4%), and malignancy (10.2%). According to the Kidney Disease Improving Global Outcomes (KDIGO) classification, AKI was detected in 38.5% of patients (stage 1: 55.6%, stage 2: 36.1%, and stage 3: 8.3%) at presentation or during hospitalization. Nine patients (4.8%) required hemodialysis and 16 (8.6%) eventually died. There was no significant association between AKI and admission to the pediatric intensive care unit (PICU) (P > .05), a multisystem inflammatory syndrome in children (MIS-C) (P > .05), comorbidities (P > .05), and mortality rate (P > .05). Conclusion. Kidneys are among the major organs affected by COVID-19. Although kidney abnormalities resolve in the majority of pediatric COVID-19 infections, particular attention should be paid to serum creatinine and electrolyte levels in patients affected by COVID-19, particularly children with a history of malnutrition and kidney disorders. [ABSTRACT FROM AUTHOR]

In this multicentre study, we compared the status of antibody production in healthcare personnel (HCP) before and after vaccination using different brands of COVID-19 vaccines between March 2021 and September 2021. Out of a total of 962 HCP enrolled in our study, the antibody against the S1 domain of SARS-CoV-2 was detected in 48.3%, 95.5% and 96.2% of them before, after the first and the second doses of the vaccines, respectively. Our results showed post-vaccination infection in 3.7% and 5.9% of the individuals after the first and second doses of vaccines, respectively. The infection was significantly lower in HCP who presented higher antibody titres before the vaccination. Although types of vaccines did not show a significant difference in the infection rate, a lower infection rate was recorded for AstraZeneca after the second vaccination course. This rate was equal among individuals receiving a second dose of Sinopharm and Sputnik. Vaccine-related side effects were more frequent among AstraZeneca recipients after the first dose and among Sputnik recipients after the second dose. In conclusion, our results showed diversity among different brands of COVID-19 vaccines; however, it seems that two doses of the vaccines could induce an antibody response in most of HCP. The induced immunity could persist for 3–5 months after the second vaccination course. [ABSTRACT FROM AUTHOR]

In this multicentre study, we compared the status of antibody production in healthcare personnel (HCP) before and after vaccination using different brands of COVID-19 vaccines between March 2021 and September 2021. Out of a total of 962 HCP enrolled in our study, the antibody against the S1 domain of SARS-CoV-2 was detected in 48.3%, 95.5% and 96.2% of them before, after the first and the second doses of the vaccines, respectively. Our results showed post-vaccination infection in 3.7% and 5.9% of the individuals after the first and second doses of vaccines, respectively. The infection was significantly lower in HCP who presented higher antibody titres before the vaccination. Although types of vaccines did not show a significant difference in the infection rate, a lower infection rate was recorded for AstraZeneca after the second vaccination course. This rate was equal among individuals receiving a second dose of Sinopharm and Sputnik. Vaccine-related side effects were more frequent among AstraZeneca recipients after the first dose and among Sputnik recipients after the second dose. In conclusion, our results showed diversity among different brands of COVID-19 vaccines; however, it seems that two doses of the vaccines could induce an antibody response in most of HCP. The induced immunity could persist for 3–5 months after the second vaccination course. [ABSTRACT FROM AUTHOR]

Bartter syndrome is a rare genetic disease with 5 subtypes. In Bartter syndrome type 4, patients suffer from deafness and renal dysfunction since infancy. In this report, we introduced a 16-year-old girl with congenital deafness without any previous renal complaints referred to our center due to ankle pain. [ABSTRACT FROM AUTHOR]

Background: Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular features of reported patients in the literature. Case: The patient was a 6‐month‐old female born to consanguineous parents. She presented with long‐lasting fever, diarrhea, poor feeding, and restlessness. She had suffered from recurrent fever of unknown origin and multiple episodes of oral candidiasis. In the physical examination, microcephaly, failure to thrive, oral candidiasis, pustular rash on fingers, and perianal ulcers, but no dysmorphic feature were observed. The immunologic workup revealed lymphopenia, neutropenia, normocytic anemia, low T‐ but normal B‐ and natural killer (NK)‐ cells, low immunoglobulin (Ig)G, and normal IgA, IgM, and IgE. The T‐cell receptor excision circle (TREC) was low and the lymphocyte transformation test (LTT) was abnormal to mitogens and antigens. She was diagnosed with T− B+ NK+ SCID and improved by intravenous immunoglobulin along with antimicrobials. A homozygous splice site variant, c.390 + 1G > T, at the intron 3 of the NHEJ1, was identified and the diagnosis of Cernunnos deficiency was established. However, while a candidate for hematopoietic stem cell transplantation, she developed sepsis and died at 11 months of age. Conclusions: Cernunnos deficiency should be considered as a differential diagnosis in patients with microcephaly, growth retardation, recurrent infections, T‐cell defects, and hypogammaglobulinemia. The normal B‐cell level in the index patient is an unexpected finding in Cernunnos deficiency which requires further evaluation. [ABSTRACT FROM AUTHOR]

Eculizumab is a humanized monoclonal antibody targeting the C5 (complement 5) member of complement proteins and inhibiting its cleavage to C5a and C5b. Eculizumab has been proven to be effective in a wide array of nephrologic, neurologic, and hematologic pediatric disorders. Kidney disorders, particularly those with immune-mediated pathomechanism, are the most common indications of eculizumab, including atypical hemolytic uremic syndrome (aHUS), hemolytic uremic syndrome (HUS), membranoproliferative glomerulonephritis (MPGN), immunoglobulin A (IgA) nephropathy, hematopoietic stem cell transplant-associated thrombotic microangiopathy, and less commonly post-infectious glomerulonephritis and diffuse proliferative lupus nephritis. In this review, we aimed to summarize the current evidence on approved and off-label applications of eculizumab and their specific considerations in pediatric kidney disorders. [ABSTRACT FROM AUTHOR]

Asthma and anaphylaxis are two atypical presentations of hyper-IgE syndrome (HIES). Early diagnosis and management of HIES can improve quality of life of patients through minimizing orthodontic problems and other complications related to this disorder. [ABSTRACT FROM AUTHOR]

Chronic diffuse osteomyelitis is an intermodular bone infection which may be resulted from a localized osteitis, previous acute osteomyelitis or prior infective processes. Florid cement-osseous dysplasia brings about a change in perfusion and in case of infection will pave the way for osteomyelitis. Complaining of chronic pain and pus drainage, a patient referred to the center of oral diseases for removing the right maxillary first molar and was diagnosed with chronic diffuse osteomyelitis in florid cement-osseous dysplasia. Bone expansion of all four quadrants of the jaws, pain, pus drainage, sinus involvement made this patient unusual (abnormal). [ABSTRACT FROM AUTHOR]

Background: Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymphoproliferative immunodeficiencies (ALPID) other than ALPS, inattention to which would increase the delay in diagnosis of the underlying genetic defect and hinder disease-specific treatment., Materials and Methods: This cross-sectional study recruited patients suffering from ALPID (exclusion of ALPS) with established genetic diagnosis. Following thorough history taking, immunophenotyping for lymphocyte subsets was performed using BD FACS CaliburTM flowcytometry., Results: Fifteen non-ALPS ALPID patients (60% male and 40% female) at a median (interquartile range: IQR) age of 14.0 (7.6-21.8) years were enrolled. Parental consanguinity and family history of immunodeficiency were present in 8 (53.3%) patients. The median (IQR) age at first presentation, clinical and molecular diagnosis were 18 (4-36) months, 8.0 (4.0-17.0) years, and 9.5 (5.0-20.9) years, respectively. Molecular defects were observed in these genes: LRBA (3, 20%), CTLA-4 (2, 13.3%), BACH2 (2, 13.3%), AIRE (2, 13.3%), and FOXP3, IL2R β, DEF6, RASGRP1, PIK3CD , and PIK3R1 each in one patient (6.7%). The most common manifestations were infections (14, 93.3%), autoimmunity (12, 80%), and lymphoproliferation (10, 66.7%). The median (IQR) count of white blood cells (WBCs) and lymphocytes were 7160 (3690-12,600) and 3266 (2257-5370) cells/mm3, respectively. The median (IQR) absolute counts of CD3+ T lymphocytes and DNTs were 2085 (1487-4222) and 18 (11-36) cells/mm3, respectively. Low lymphocytes and low CD3+ T cells were observed in 3 (20%) patients compared to normal age ranges. Only one patient with FOXP3 mutation had DNT cells higher than the normal range for age., Conclusions: Most non-ALPS ALPID patients manifested normal DNT cell count. For a small subgroup of patients with high DNT cells, defects in other IEI genes may explain the phenotype and should be included in the diagnostic genetic panel., Competing Interests: The authors declare no conflict of interest.