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Unmasking Sapovirus: Chronic Enteritis in an Immunocompromised Adult With Hypogammaglobulinemia.

Sapovirus is a recognized cause of acute viral gastroenteritis, predominantly affecting children and older adults. While typically self-limiting in immunocompetent individuals, sapovirus can result in persistent, severe gastrointestinal illness in immunocompromised patients. Chronic sapovirus enteritis remains underrecognized and lacks standardized treatment guidelines. We report the case of a 69-year-old woman with multiple myeloma and profound hypogammaglobulinemia secondary to chimeric antigen receptor (CAR) T-cell therapy who presented with a 10-month history of chronic watery diarrhea. Im

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… In our patient, chronic sapovirus infection likely resulted from persistent IgA deficiency secondary to prior CAR T-cell therapy, placing her at increased risk for prolonged viral shedding and symptoms. … Polyclonal immunoglobulin therapy is another therapeutic option worth considering in immunocompromised patients, especially those with IgA deficiency, given IgA's important role in mucosal immunity. …

A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

BACKGROUND: The PI3K/AKT pathway, extensively studied in cancer, is vital for regulating cell metabolism, differentiation, and proliferation. Pathogenic variants in the PIK3R1 gene, which encodes three regulatory units of class IA PI3Ks, have been found in affected tissue of individuals with vascular lesions. These variants predominantly occur in the iSH2 domain, disrupting inhibitory contacts with the catalytic unit and leading to PI3K activation. Germline variants in this gene are also linked to an immunological condition called Activated PI3K delta syndrome type 2 (APDS2). METHODS: This is

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

BACKGROUND: DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes. We investigated the characteristics of LIG4 syndrome in a Chinese cohort. RESULTS: All seven patients had growth restriction. Most patients (6/7) had significant microcephaly (< - 3 SD). Recurrent bacterial infections of the lungs

Clinical Presentation of Ataxia-Telangiectasia.

BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological features. METHODS: We report a case series of 18 patients diagnosed with ataxia-telangiectasia, who were referred to a tertiary center of clinical immunology from 2008-2018. Clinical presentations, medical records and lab data were observed during this period with a mean follow-up time of 4.57 ± 2.66 years. RESULTS: The mean age of the

Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia.

Patients with X-linked agammaglobulinemia (XLA) have failure of B-cell development with lack of immunoglobulin (Ig) production. While immunoglobulin replacement therapy (IgRT) is beneficial, XLA patients remain at risk for infections, structural lung damage, and rarely, neoplasia. Allogeneic stem cell transplantation (alloSCT) may offer a potential cure, but is associated with significant life-threatening complications. Here, we present a 25-year old XLA patient who developed pre-B acute lymphocytic leukemia (ALL) with somatic TP53 mutation, and treatment for this high-risk malignancy involved

Iron Deficiency Anaemia In Pakistan: Celiac Disease An Underlying Cause.

BACKGROUND: Iron deficiency anaemia (IDA) is common in Pakistani population and an important cause of morbidity. Celiac disease (CD) is an important contributor and its diagnosis is frequently missed especially if present in atypical/non-diarrhoeal form. Non-responders to iron replacement therapy typically raises suspicion of celiac disease as underlying cause. Aim of this study is to determine the frequency of CD in patients with IDA.. METHODS: A cross sectional study was conducted at tertiary health care centre Islamabad from 12th March to 12th September 2016. Two hundred & ninety patients

Seronegative Coeliac Disease Masquerading as Irritable Bowel Syndrome type Symptoms.

Coeliac disease affects 1% of the population but internationally delays in diagnosis are frequent. A relationship between irritable bowel syndrome type symptoms and coeliac disease is well established and most IBS guidelines recommend that patients presenting with IBS type symptoms should be tested serologically for coeliac disease. Seronegative coeliac disease accounts for 3-5% of all cases of coeliac disease and it is a diagnostic challenge which requires a high level of clinical suspicion and consideration of duodenal biopsies prior to confidently excluding this diagnosis. We report the fir

Lack of increased prevalence of immunoregulatory disorders in hereditary angioedema due to C1-inhibitor deficiency.

Hereditary angioedema due to deficiency of C1-INH (HAE-C1-INH) is associated with enhanced consumption of the early complement components, which may predispose for autoimmune disease. We assessed the prevalence of such disorders among HAE- C1-INH patients and their impact on the natural course of HAE-C1-INH. Clinical data and immunoserological parameters of 130 HAE-C1-INH and 174 non-C1-INH-deficient patients with angioedema were analyzed. In our study, the incidence of immunoregulatory disorders was 11.5% in the population of HAE-C1-INH patients and 5.2% among non-C1-INH-deficient controls wi

Otolaryngologic manifestations of immunodeficiency.

Otolaryngologists are frequently consulted to manage infectious and noninfectious complications of immune deficiency. Although defects of host defense and recurrent or severe infections are the most obvious manifestations of immune deficiency, patients are often at increased risk for autoimmune and malignant disease as well. Knowledge of primary and acquired immune deficiencies will facilitate appropriate identification, treatment, and referral of patients with these defects. When immunodeficiency is known or suspected, it is particularly important to have a high index of suspicion for unusual

Allergy and autoimmunity in children: non-mutually exclusive diseases. A narrative review.

In last decades a simultaneous increase in the prevalence of atopic and autoimmune disorders in pediatric population has been observed. Desp … sbiosis and reduced number of T regs and IL-10 contribute to the onset of allergy and autoimmunity. IgA deficiency is also hypothesized to be the crosslink between celiac disease and allergy by lowering gut mucous membrane protection from antigens and allergens. The present narrative review aims to give an overview of the co-occurrence of allergic and autoimmune …

ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease.

OBJECTIVES: To gather the current evidence and to offer recommendations for follow-up and management. METHODS: The Special Interest Group o … ar diagnosis for which a gluten-challenge is indicated, children with associated type 1 diabetes or IgA deficiency, cases of potential celiac disease, which professionals should perform follow-up, how to improve the communication to patients and their parents/caregivers and transition from pediatric to adult health care. CONCLUSIONS: We offer recommendations to …

Autoimmune hepatitis.

Autoimmune hepatitis (AIH) is a severe hepatopathy characterised by female preponderance, hypertransaminasaemia, elevated levels of immunogl … of presentation (fulminant hepatic failure more frequently observed in AIH-2) and association with IgA deficiency (more frequent in AIH-2). AIH responds satisfactorily to immunosuppressive treatment (corticosteroids with or without azathioprine) that should be started as soon as the diagnosis is made. Despite immune suppression, some 40% of patients experience …

Autoimmune hepatitis in children: what is different from adult AIH?

Autoimmune hepatitis (AIH) is characterized by inflammatory liver histology, circulating non-organ-specific autoantibodies, and increased levels of immunoglobulin (Ig) G in the absence of a known etiology. Two types of childhood AIH are recognized according to seropositivity: smooth muscle antibody (SMA) and/or antinuclear antibody (ANA), which is AIH type 1; and antibodies to liver-kidney microsome type 1 (anti-LKM1), which is AIH type 2. There is a female predominance in both. Autoimmune hepatitis type 2 presents more acutely, at a younger age, and commonly with IgA deficiency; however, dura…

[Prevalence of celiac disease in risk group patients in Nizhny Novgorod region].

AIM: To estimate prevalence of gluten celiac disease (GCD) in Nizhny Novgorod region by the data of examination of patients from high risk group. MATERIAL AND METHODS. Outpatient examination was made in 41245 outpatients. GCD risk groups included patients with chronic diarrhea and other manifestations of enteropathy, iron deficiency anemia of unclear genesis, with autoimmune disorders, skin diseases associated with GD, women with reproductive dysfunction of unclear genesis, persons with low body mass, close relatives of GCD patients. All the patients were examined conventionally. Antiglutenic

LKM-positive autoimmune hepatitis in the western United States: a case series.

OBJECTIVE: LKM-positive, or type 2, autoimmune hepatitis is characterized by the presence of antibodies directed against liver-kidney micros … ively. Four of five patients had at least one associated autoimmune disorder, including IgE-induced IgA deficiency, idiopathic thrombocytopenic purpura (ITP), and arthritis. HLA class II DR4 was present in two patients. CONCLUSIONS: LKM-positive autoimmune hepatitis seems to be a subset of autoimmune hepatitis with distinct clinical features; although rare, it …

Influence of suramin on the expression of Fc receptors and other markers on human monocytes and U937 cells, and on their phagocytic properties.

Suramin, a polyanionic and polycyclic compound, was initially used for the treatment of trypanosomiasis and onchocerciasis. In the last decade, it has been used in therapy of cancer and acquired immune deficiency syndrome (AIDS). The influence of suramin on the expression of various markers by human mononuclear phagocytes is not known and was, therefore, presently investigated. Suramin inhibited the proliferation of U937 cells and mitogen-induced T-cell proliferation in a dose-dependent manner. The constitutive and cytokine-driven expression of Fc receptors for IgG (Fc gamma RI and Fc gamma RI

Genetic study of a new X-linked recessive immunodeficiency syndrome.

Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. Although there are (some) phenotypic variants, diagnosis is relatively simple on the basis of clinical, immunological, and genetic characteristics. We studied a family in which several males were affected by severe infections and whose pedigree suggested recessive XL inheritance of an immunodefic

Transplantation of cultured thymic fragments. II. Results in nude mice.

Nine nude mice were transplanted with cultured thymic fragments derived from syngeneic (three recipients) or allogeneic (six recipients) sources. All transplanted mice survived for periods of up to 8-10 mo thereafter, at which time they were sacrificed. Weight gain had been progressive and the animals were in excellent health. Four nontransplanted littermates housed in the same cages died at the age of 4 mo. In the nontransplanted mice, the usual deficits of T and B cells were observed. In transplanted mice, normalization of IgG1 and IgA levels as well as IgG antibodies to sheep erythrocytes a

The Prevalence of Associated Autoimmune Diseases Among Adults With Type 1 Diabetes Mellitus: A Cross-Sectional Study.

Background The relationship between type 1 diabetes mellitus (T1DM) and other autoimmune diseases has been known; however, the actual prevalence in the adult population nor clinical symptoms has not been determined locally. Objectives We aim to determine the prevalence of associated autoimmune diseases (Hashimoto's thyroiditis, celiac disease (CD), and adrenal insufficiency (AI)) and evaluate the most reporting symptoms and glycemic control assessment, as well as microvascular complications and hypoglycemia episodes. Methods A cross-sectional study of 251 patients with T1DM at the diabetic cli

Efficacy and safety of BAFF/APRIL-pathway inhibitors versus placebo in adults with IgA nephropathy: a systematic review with pairwise and network meta-analysis.

BACKGROUND: B-cell activating factor (BAFF) and a proliferation-inducing ligand (APRIL) drive the galactose-deficient IgA1 (Gd-IgA1) production that underlies IgA nephropathy (IgAN). Several BAFF/APRIL-pathway inhibitors have entered randomized testing, but none has been compared head-to-head. METHODS: We systematically searched MEDLINE, Scopus, the Cochrane Central Register, Web of Science, and Embase to July 2026 for randomized, placebo-controlled trials of BAFF/APRIL-pathway inhibitors in adults with biopsy-proven IgAN. Random-effects pairwise meta-analysis used the standardized mean chang