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NBAS/RALF deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
There is no established treatment for NBAS deficiency. However, it has been observed in six patients that liver crises can be ameliorated and shortened through early and consequent antipyretic therapy and induction of anabolism through IV glucose and parenteral lipids, especially when begun early in the course of ALF. Early and effective antipyretic therapy may even prevent liver crises. Patients should be supplied with an emergency card, letter, or bracelet containing instructions for emergency measures and phone numbers. One patient was liver transplanted at the age of three years. She has not suffered any further crises since then [3]. Fixation surgery may become necessary in case of cervical instability due to hypoplastic cervical vertebrae [8]. In patients with hypogammaglobulinemia, immunoglobulin replacement should be considered. This can reduce frequency of infections, hereby avoiding triggers of liver crises [8].
Haematological malignancy
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
Hypogammaglobulinaemia is a common association. Haemolytic anaemia might be associated with CLL with elevated conjugated bilirubin and a positive Coombs test. In HTLV-associated CLL, hypercalcaemia and hyponatraemia are characteristic features.
Prenatal Diagnosis and Early Treatment of Immunodeficiencies in Man
Published in Gérard Chaouat, The Immunology of the Fetus, 2020
Catherine Royo, Jean-Louis Touraine
Long-term substitution therapy with human gammaglobulins has been shown to be the basic treatment of patients with hypogammaglobulinemia or with other antibody-deficiency syndromes.40 Available gammaglobulin preparations contain mainly IgG. The recent development of effective and well-tolerated IgG preparations suitable for i.v. administration permits use of larger doses of Ig than with the i.m. route.41,42 A serum IgG concentration above 5g/l must be maintained to provide good prophylaxis of infections.
How do nuclear factor kappa B (NF-κB)1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
Published in Expert Review of Clinical Immunology, 2023
Nazanin Fathi, Hanieh Mojtahedi, Marzieh Nasiri, Hassan Abolhassani, Mahsa Yousefpour Marzbali, Marzie Esmaeili, Fereshte Salami, Furozan Biglari, Nima Rezaei
NF-κB1 and NF-κB2 deficiencies generally belong to primary antibody deficiencies according to the International Union of Immunological Societies (IUIS) classification [1]. Hypogammaglobulinemia is the most often immunologically distinguished manifestation in these patients. Low antibody production may result from a defect in terminal B cell development. Two lineages of B cells can progress to antibody secretion basis on their anatomic localization and ontogeny: the B1 lineage and B2 lineage, which consist of FO B cells and MZ B cells. As previously mentioned, B1 and MZ B cells are the main sources of natural antibodies and mediate rapid responses by producing IgM antibodies almost 1–3 days after exposure to antigens. This compensates for the temporal gap to produce FO B cell-derived IgG antibodies caused by a delay (about 7 days). Generally, the significant characteristics of humoral immunity are producing high-affinity, isotype-switched antibodies generated by plasma cells, and long-lived memory B cells. Both mechanisms are defective in patients with NF-κB mutations.
The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS)
Published in Immunological Investigations, 2022
Saba Fekrvand, Samaneh Delavari, Zahra Chavoshzadeh, Roya Sherkat, Seyed Alireza Mahdaviani, Mahnaz Sadeghi Shabestari, Gholamreza Azizi, Mohammad Taghi Arzanian, Bibi Shahin Shamsian, Shabnam Eskandarzadeh, Narges Eslami, William Rae, Antonio Condino-Neto, Javad Mohammadi, Hassan Abolhassani, Reza Yazdani, Asghar Aghamohammadi
1. Hyper IgM (HIgM) characterized by normal or increased serum level of IgM along with decreased serum level of IgA and IgG; 2. Hypogammaglobulinemia characterized by decreased serum levels of at least one of IgG, IgA or IgM serum levels; 3. Agammaglobulinemia characterized by serum IgG level below 200 mg/dl in infants aged <12 months and 500 mg/dl in children aged >12 months or normal IgG levels with IgA and IgM below 2 standard deviations (SD) and 4. IgA deficiency (IgAD) characterized by serum levels of IgG and IgM within the age- and sex-matched reference values but IgA below 2SD. Hypogammaglobulinemia, agammaglobulinemia and IgAD profiles were equally frequent among APDS1 group (all in two patients, 33.3%), while HIgM (five patients, 55.6%) followed by hypogammaglobulinemia (three patients, 33.3%) and IgAD (one patient, 11.1%) were the more common profiles among APDS2 patients. Median absolute counts of all lymphocyte subsets as well as the median of all Ig levels including IgG and IgA (except IgM) were lower in patients with APDS2 than APDS1 group, although these differences were not significant.
Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature
Published in Immunological Investigations, 2022
Niusha Sharifinejad, Gholamreza Azizi, Nasrin Behniafard, Majid Zaki-Dizaji, Mahnaz Jamee, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi
Medical information was collected after obtaining written informed consent from the patient and his parents, following the principles of the ethics committee of the Tehran University of Medical Sciences. Secondary causes of hypogammaglobulinemia were excluded by history taking, absence of renal and gastrointestinal protein loss, and other drugs or disease-related causes. Clinical diagnosis of ALPS has been established according to European Society for Immunodeficiencies criteria including at least one clinical warning sign (splenomegaly, lymphadenopathy, autoimmune cytopenia, history of lymphoma or affected family member) and at least one of the laboratory indicators (elevated TCRαβ+CD3+ CD4-CD8- T cells or two elevated biomarkers of soluble FASL, vitamin B12 and interlukin-10) (Seidel et al. 2019). The extraction of genomic DNA was performed using the whole peripheral blood sample. The whole-exome sequencing and confirmatory Sanger sequencing method was carried out according to a pipeline published previously (Alkhairy et al. 2016; Fang et al. 2016).