scholarly journals A case of primary immunodeficiency: hyper IgM syndrome

2019 ◽  
Vol 6 (6) ◽  
pp. 2700
Author(s):  
Madhura P. Fadnis ◽  
Pratibha B. Shamkuwar
Keyword(s):  
Respiratory Tract Infections ◽  
Elevated Serum ◽  
Serum Levels ◽  
Present Case Report ◽  
Class Switch ◽  
Hyper Igm Syndrome ◽  
History Of ◽  
Hyper Igm ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

Hyper IgM syndrome are group to disorders characterized by elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE the mechanism of HIGM is immunoglobulin Class-Switch Recombination (CSR) failure and Somatic Hyper Mutation (SHM). This diagnosis should be considered in any patient presenting with hypogammaglobulinemia, with low or absent IgG and IgA and normal or elevated IgM level. In the present case report, this was a 6-year-old male child who had history of recurrent respiratory tract infections who presented with otitis media and persistent fever spikes. Immunoglobulin studies revealed a pattern consistent with hyper IgM.

scholarly journals Congenital cutis laxa with multi-system involvement

2020 ◽  
Vol 6 (2) ◽  
pp. 253
Author(s):  
Karan Malhotra ◽  
Karjigi Siddalingappa ◽  
Kallappa C. Herakal
Keyword(s):  
Respiratory Tract Infections ◽  
Case Reports ◽  
Specific Treatment ◽  
Cutis Laxa ◽  
Single Patient ◽  
Genitourinary System ◽  
Cosmetic Appearance ◽  
History Of ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

<p class="abstract">Cutis laxa is a heterogeneous group of inherited and acquired rare connective tissue disease characterized by loose, wrinkled, and inelastic skin. It clinically presents as loose skin with folds giving a premature aged appearance. Cutis laxa is very rare, with an estimated incidence of one in 4 million. There are many case reports on acquired cutis laxa but very few on “congenital” cutis laxa. Authors report a 15 years old female presenting with a history of recurrent respiratory tract infections since the age of 2 years associated with flaccid skin all over her body and extensive loose folds of skin over face, neck, abdomen, arms and thighs since birth. Cutis laxa has been diagnosed based on the clinical picture and histopathological appearance. No medical treatment is available for correction of the pathology of disease. Plastic surgery remains the only modality of treatment to improve the cosmetic appearance. Systemic abnormalities need specific treatment depending upon the condition. The purpose of this report is due to its rarity and involvement of skin, hairs, respiratory, cardiovascular and genitourinary system in a single patient.</p>

scholarly journals X-linked Hyper-IgM Syndrome with Bronchiectasis

2014 ◽  
Vol 6 (02) ◽  
pp. 114-116 ◽  
Author(s):  
Devki Nandan ◽  
Vimal Kumar Nag ◽  
Nitin Trivedi ◽  
Sarman Singh
Keyword(s):  
Flow Cytometry ◽  
Genetic Disorder ◽  
Elevated Serum ◽  
Immunoglobulin M ◽  
High Susceptibility ◽  
Recurrent Pneumonia ◽  
Pneumocystis Jiroveci ◽  
Hyper Igm Syndrome ◽  
History Of ◽  
Hyper Igm

ABSTRACTThe X-linked hyper-immunoglobulin M syndrome (HIGM-1) is a rare genetic disorder characterized by elevated serum IgM levels and low to undetectable levels of serum IgG, IgA and IgE. These patients characteristically present with recurrent sinopulmonary infections and recurrent diarrhea. They also have high susceptibility for Pneumocystis jiroveci (PJ) pneumonia. Herein, we report a case of HGM-1 in a 5-year-old boy who presented with bronchiectasis and, possibly, PJ pneumonia. The diagnosis was established on the basis of clinical features, immune profile, whole blood flow cytometry and history of two male sibling's death due to recurrent pneumonia and diarrhea.

scholarly journals Immunological Markers in Children with Genetic Disorders and Recurrent Respiratory Tract Infections

2020 ◽  
Vol 8 (B) ◽  
pp. 104-108
Author(s):  
Shams Kholoussi ◽  
Naglaa Kholoussi ◽  
Hala El Nady ◽  
Engy A. Ashaat ◽  
Rania Fawzy Mahmoud Abdelkawy ◽  
...  
Keyword(s):  
Serum Level ◽  
Respiratory Tract ◽  
Respiratory Tract Infections ◽  
Genetic Disorders ◽  
Serum Levels ◽  
Control Group ◽  
Significant Difference ◽  
Patient Groups ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

BACKGROUND: Recurrent respiratory tract infections (RRI) are one of the extremely high common reasons for pediatric visits and hospitalization. Immunodeficiencies are considered as important conditions that may increase the probability of occurrence of RRI. Mannose-binding lectin (MBL2) is a protein of the innate immune system involved in the opsonization and the complement activation. MBL2 deficiency is associated with infectious diseases mainly chest infections; however, subnormal MBL2 levels are also seen in healthy subjects. Primary immunedeficiencies are associated with recurrent infections which mainly appear in early childhood. AIM: The aim of the study was to estimate T and B and natural killer cells percentage and to investigate the MBL2 and immunoglobulins (Igs) serum levels in children with recurrent RRIs in different genetic disorders compared to normal control. METHODS: This study included 50 children having a history of recurrent RRIs. All patients had genetic disorders and referred to National Research Centre for follow-up, in addition to, 25 children, age- and sex-matched as a healthy control group. They were subjected to full clinical examination and laboratory investigations including complete blood count (CBC), CD3, CD4, CD8, CD16, and CD19 by flow cytometry, MBL2 by enzyme-linked immunosorbent assay (ELISA), and Igs serum concentrations by nephelometry. RESULTS: CD16 showed a non-statistical significant difference between both patient groups. Serum levels of IgA in patient groups showed a significant decrease compared to the control group. Moreover, the serum level of IgM results shows a highly significant decrease when compared with the control group. There was no statistically significant difference in MBL2 and IgG serum levels between patient groups and control group. CONCLUSION: Children with genetic disorders and recurrent RRIs showed a statistically significant decrease of IgA and IgM serum levels as compared to the control group, while the serum level of MBL2 did not show significant results.

scholarly journals Retraction Note: Childhood iron deficiency anemia leads to recurrent respiratory tract infections and gastroenteritis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jayaweera Arachchige Asela Sampath Jayaweera ◽  
Mohammed Reyes ◽  
Anpalaham Joseph
Keyword(s):  
Iron Deficiency ◽  
Respiratory Tract ◽  
Iron Deficiency Anemia ◽  
Respiratory Tract Infections ◽  
Deficiency Anemia ◽  
Link Type ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

Editor's Note: this Article has been retracted; the Retraction Note is available at https://doi.org/10.1038/s41598-021-90018-8.

scholarly journals Respiratory tract infections in children with allergic asthma on allergen immunotherapy during influenza season

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yuyun Li ◽  
Dongming Wang ◽  
Lili Zhi ◽  
Yunmei Zhu ◽  
Lan Qiao ◽  
...  
Keyword(s):  
Respiratory Tract ◽  
Allergic Asthma ◽  
Respiratory Tract Infections ◽  
Allergen Immunotherapy ◽  
Clinical Symptoms ◽  
Influenza Season ◽  
The Body ◽  
History Of ◽  
Tract Infections ◽  
Stage 1

AbstractTo describle how respiratory tract infections (RTIs) that occurred in children with allergic asthma (AA) on allergen immunotherapy (AIT) during an influenza season. Data including clinical symptoms and treatment history of children (those with AA on AIT and their siblings under 14 years old), who suffered from RTIs during an influenza season (Dec 1st, 2019–Dec 31st, 2019), were collected (by face to face interview and medical records) and analyzed. Children on AIT were divided into 2 groups: stage 1 (dose increasing stage) and stage 2 (dose maintenance stage). Their siblings were enrolled as control. During the study period, 49 children with AA on AIT (33 patients in stage 1 and 16 patients in stage 2) as well as 49 children without AA ( their siblings ) were included. There were no significant differences in occurrences of RTIs among the three groups (p > 0.05). Compared with children in the other two groups, patients with RTIs in stage 2 had less duration of coughing and needed less medicine. Children on AIT with maintenance doses had fewer symptoms and recovered quickly when they were attacked by RTIs, which suggested that AIT with dose maintenance may enhance disease resistance of the body.

scholarly journals Acceptability of a Sublingual Drug Formulation for Respiratory Tract Infections in Children Aged 3 to 5 Years

Pharmaceutics ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 294
Author(s):  
Andrzej Emeryk ◽  
Thibault Vallet ◽  
Ewelina Wawryk-Gawda ◽  
Arkadiusz Jędrzejewski ◽  
Frederic Durmont ◽  
...  
Keyword(s):  
Respiratory Tract ◽  
Respiratory Tract Infections ◽  
Drug Formulation ◽  
Reference Framework ◽  
Significant Difference ◽  
Key Factor ◽  
Treatment Safety ◽  
The Many ◽  
Tract Infections ◽  
Recurrent Respiratory Tract Infections

In pediatrics, acceptability has emerged as a key factor for compliance, and consequently for treatment safety and efficacy. Polyvalent mechanical bacterial lysate (PMBL) in 50-mg sublingual tablets is indicated in children and adults for the prophylaxis of recurrent respiratory tract infections. This medication may be prescribed in children over 3 years of age; the appropriateness of this sublingual formulation should thus be demonstrated amongst young children. Using a multivariate approach integrating the many aspects of acceptability, standardized observer reports were collected for medication intake over the course of treatment (days 1, 2, and 10) in 37 patients aged 3 to 5 years, and then analyzed in an intelligible model: the acceptability reference framework. According to this multidimensional model, 50-mg PMBL sublingual tablets were classified as “positively accepted” in children aged 3 to 5 years on all three days of evaluation. As the acceptability evaluation should be relative, we demonstrated that there was no significant difference between the acceptability of these sublingual tablets and a score reflecting the average acceptability of oral/buccal medicines in preschoolers. These results highlight that sublingual formulations could be appropriate for use in preschoolers.

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