Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (PID) is not elucidated. The current prospective study on a national registry of PID patients showed that with only 1.23 folds higher incidence of infections, these patients present a 10-folds higher mortality rate compared to population mainly in patients with combined immunodeficiency and immune dysregulation. Therefore, further management modalities against COVID-19 should be considered to improve the survival rate in these two PID entities using hematopoietic stem cell transplantation and immunomodulatory agents.

Background: Type 1 Diabetes mellitus (DM) causes changes in bone mineral density (BMD). Objectives: The aim of this study was to evaluate BMD in children with type 1 DM and predictive factors of BMD loss in these patients. Methods: This cross-sectional study was conducted on 112 children with type 1 DM referrtd to children's medical center in Tehran, Iran during 2015 and 2016. Serum levels of hemoglobin A1c (HbA1c), Insulin-like growth factor 1 (IGF-1), 25-hydroxy vitamin D (25(OH) D), calcium, phosphorus, parathyroid hormone (PTH), alkaline phosphates (ALP), Fasting blood sugar (FBS) was recorded. Lumbar

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.

BackgroundCombined immune deficiencies (CIDs) with associated or syndromic features are a highly heterogeneous subgroup of inherited immune disorders. These patients represent specific clinical complications with an increased risk of autoimmune conditions.MethodsWe analyzed data of monogenic patients with syndromic CIDs adopted from the Iranian inborn errors of immunity registry up to January 2022. A comprehensive comparison in terms of demographic, clinical, and immunological features was performed between patients with and without autoimmunity and also among four mutation groups with the most registered cases including ATM, STAT3 (AD-LOF), DNMT3B/ZBTB24, and WAS mutations.ResultsA total of 137 patients with monogenic syndromic CIDs were included. Most commonly mutated genes were the ATM [80 (58.4%)] and STAT3 (AD-LOF) [19 (13.9%)], followed by DNMT3B [11 (8%)], and WAS [11 (8%)]. More than 18% of all patients with syndromic CIDs, including most DNMT3B/ZBTB24 mutations patients, were clinically diagnosed with antibody deficiencies before genetic evaluation. Patients with ATM and WAS mutations had the latest age of onset and the lowest age of diagnosis, respectively. Autoimmune disorders were diagnosed in 24 patients at a median age of 3.5 (2.6-6.0) years, 70.6% of which were diagnosed prior to the diagnosis of immunodeficiency. Lymphoproliferation, particularly hepatosplenomegaly, was significantly higher in patients with autoimmunity (p=0.004). Syndromic CID patients with autoimmunity had significantly lower IgG levels. Hematologic autoimmunity mainly immune thrombocytopenic purpura was the most frequent autoimmunity among major groups of ATM, STAT3 (AD-LOF), DNMT3B/ZBTB24, and WAS mutations, however ATM-mutated patients present more diversified involved organs including rheumatologic, gastrointestinal and dermatologic autoimmunity.ConclusionAbout 18% of patients with monogenic syndromic CIDs developed autoimmunity, mainly in the form of hematological immune diseases. Autoimmunity could be an early-onset involvement with a potential diagnostic impact on suspicious cases of syndromic CIDs.

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

Objectives: X-linked Agammaglobulinemia (XLA) is a primary immunodeficiency disease, characterized by severe hypogammaglobulinemia and the low numbers of peripheral B cells. Neutropenia is a rare complication among the XLA patients, which may lead to a higher rate of infections and morbidity. The aim of the authors is to assess the correctness of this issue. Methods: In this study, we compared demographic, clinical and laboratorial data between two groups of XLA patients, with and without neutropenia. Results: Frequency of neutropenia was 15% in our population. Infectious complications were the most prevalent clinical manifestations, regardless of the presence of neutropenia. However, Lymphoproliferative complication was significantly higher in the neutropenic patients (p = 0.001). No significant difference in mortality rate was observed between the groups. Conclusion: Neutropenia is a rare complication among the XLA patients, and significantly decreases the mean age of XLA diagnosis in the patients. But it is not related to the higher frequency of infectious diseases in the neutropenic patients compared to non-neutropenic ones.

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