Transient increased immunoglobulin levels in a hyper-IgM syndrome patient with COVID-19 infection

Background The coronavirus disease 2019 (COVID-19) pandemic has affected millions of people around the world. This zoonotic-enveloped virus is primarily transmitted through inhalation. Infected people are commonly asymptomatic or manifest mild symptoms, including fever, cough, diarrhea, and fatigue. However, it may lead to severe patterns associated with multiple organ failure in individuals with an impaired immune system. Objective Here we report a 7-year-old girl with hyper-immunoglobulin M (IgM) (HIgM) phenotype, admitted to the hospital emergency department with fever, cough, and pneumonia symptoms because of the COVID-19 infection. Coronavirus infection was confirmed by a positive real-time polymerase chain reaction test. Surprisingly, serum levels of both IgG and IgA of the patient were transiently normalized during the COVID-19 infection when tested prior to the monthly injection of intravenous immunoglobulin. After she recovered from the COVID infection, her immunoglobulin levels returned to the primary stage and she demonstrated HIgM phenotype. Conclusion Since this transient increase in the levels of immunoglobulins was solely observed during the COVID-19 infection, and no other infectious episodes were diagnosed in the patient, clarifying the exact cause would help to understand in a better manner the implications and specification of humoral immunity in patients with primary antibody deficiencies (AU)

Hyper IgM syndrome type 2 presenting as intestinal lymphoid polyposis without recurrent infection

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Prospective evaluation of Streptococcus pneumoniae serum antibodies in patients with primary immunodeficiency on regular intravenous immunoglobulin treatment

BACKGROUND: This is a prospective study that assessed pneumococcal antibody levels in PID patients under intravenous immunoglobulin (IVIG) treatment using different brands. METHODS: Twenty-one patients receiving regular IVIG every 28 days were invited to participate: 12 with common variable immunodeficiency, six with X-linked agammaglobulinaemia and three with hyper-IgM syndrome. One blood sample was collected from each patient just prior to IVIG administration at a threemonth time interval during one year. A questionnaire was filled in with patient's demographic data and history of infections during the study period. Streptococcus pneumoniae antibodies against six serotypes (1, 5, 6B, 9V, 14 and 19F) were assessed by ELISA both in patients' serum (trough levels) and in IVIG samples. RESULTS: Median total IgG trough serum levels were 7.91 g/L (range, 4.59-12.20). All patients had antibody levels above 0.35 g/mL to the six serotypes on all four measurements. However, only 28.6% of patients had pneumococcal antibodies for the six analysed serotypes above 1.3 g/mL on all four evaluations during the one-year period. No correlation was found between IgG trough levels and pneumococcal specific antibodies. Eighteen of the 21 patients (85.7%) had infections at some point during the 12-month follow-up, 62/64 (96.9%) clinically classified in respiratory tract infections, four of which were pneumonia. CONCLUSIONS: Pneumococcal antibodies are present in a high range of concentrations in sera from PID patients and also in IVIG preparations. Even maintaining a recommended IgG trough level, these patients can be susceptible to these bacteria and that may contribute to recurrent respiratory infections

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Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity

BACKGROUND: The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD). METHODS AND RESULTS: A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8 + T lymphocytes, and CD19 + B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. Sequencing analysis of the exons from activation-induced cytidine deaminase (AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine. CONCLUSIONS: To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. The mutation analysis could improve diagnosis of HIGM patients and also elaborating on the spectrum of AICDA mutations

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Infección por el virus de la inmunodeficiencia humana de tipo 2 (VIH-2) y los virus linfotrópico humano de células T de tipos 1 y 2 (HTLV-1/2) en España / No disponible

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Diagnosing the hyper-IgE syndrome: incidence of clinical features

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