Objective: There are many cases of post-vaccination COVID-19 globally. Also, literature on serum ... more Objective: There are many cases of post-vaccination COVID-19 globally. Also, literature on serum antibodies after vaccination is abundant. Our research focuses on breakthrough infections reported at our institution during the third wave of COVID-19. Methods: A total of 177 people recruited at the Indus Hospital Karachi between May to September 2021 with COVID-19 infection were divided into vaccinated, partially vaccinated, and unvaccinated cohorts. Furthermore, a subset of the vaccinated cohort was tested for anti-NP and anti-S antibodies. Results: There were 119 patients with breakthrough infection, however, 74% had mild symptoms. The antibodies against NP and S were found at a higher level in those who had a breakthrough infection in comparison to healthy vaccinated controls. Conclusion: Vaccination does not prevent disease but does confer some immunity causing less severe infection. doi: https://doi.org/10.12669/pjms.39.5.6724 How to cite this: Hussain A, Sarfaraz S, Anis S, Shei...
Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifes... more Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death. Case Presentation LAD 1 is characterized by homozygous pathogenic variants in the integrin subunit beta 2 (ITGB2) gene. We report two cases of LAD1 with unusu...
Hyper Immunoglobulin E syndrome also called Job\u27s or Buckley Syndrome is a rare primary immuno... more Hyper Immunoglobulin E syndrome also called Job\u27s or Buckley Syndrome is a rare primary immunodeficiency disease characterized by elevated serum IgE levels (\u3e 2000 IU/ml), recurrent infections and eosinophilia. Other features include coarse facies and non-immunologic abnormalities of the dentition, bones, vasculature and connective tissues. We are reporting a case of a twenty four years old male with coarse facies who presented with severe pallor and upper gastrointestinal bleeding. Investigations revealed markedly elevated serum IgE levels (11,800 IU/ml), severe anaemia, esophageoduodenal erosions, Helicobacter pylori (H. pylori) gastritis and oro-esophageal candidiasis
Background:The diagnosis of autoimmune diseases (AID) is challenging, due to overlapping features... more Background:The diagnosis of autoimmune diseases (AID) is challenging, due to overlapping features with other non-immune disorders. Anti-nuclear antibodies (ANA) /anti-cellular antibodies are the sensitive screening tests but anti-double-stranded-deoxyribonucleic-acid-antibody (anti-ds-DNA), and anti-extractable nuclear antigens (anti-ENA) are specific for AIDs. We aimed to look at anti-ENA in our patients and correlated them with ANA patterns, anti-ds-DNA and clinical diagnosis for proper interpretation and better patient management cost-effectively. Methods:A retrospective data analysis of 654 patients was done (1st-February-2019 to 31st –July-2021) who were tested for anti-ENA at the Immunology Department of Indus Hospital and Health Network. ANA and anti-ds-DNA results and clinical diagnosis were also analyzed for anti-ENA-positive patients. The statistical analysis was performed using IBM SPSS 24.0, P < 0.05.was considered statistically significant.Results:Anti-ENA was positi...
Background: Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manife... more Background: Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death.Case Presentation:LAD 1 is characterized by a mutation in integrin subunit beta 2 (ITGB2). We report two cases of LAD1 with unusual presentations (post-circum...
Fifty five percent of the Pakistani population is still unvaccinated with the two-dose protocol o... more Fifty five percent of the Pakistani population is still unvaccinated with the two-dose protocol of COVID-19 vaccines. This study was undertaken to determine the seroconversion rate and antibody titers following the two-dose BBIBP-CorV protocol, and to compare these variables in unvaccinated, COVID-19 recovered individuals (total n = 180) at Indus Hospital and Health Network, Karachi. Pseudotyped lentivirus antibody neutralization assays and SARS-CoV-2 IgG Quant II (Abbott) immunoassays were performed 4-8 weeks following the second dose of the BBIBP-CorV or PCR positivity/onset of symptoms of COVID-19. Seroconversion rate, using neutralization assays, in vaccinated individuals was lower (78%) than that in unvaccinated, COVID-19-recovered individuals with moderate to severe infection (97%). Prior PCR positivity increased serocoversion rate to 98% in vaccinated individuals. Immunoassays did not, however, reveal significant inter-group differences in seroconversion rates (≥95% in all gr...
To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in he... more To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in hepatitis C virus (HCV) infected individuals. Eligible individuals selected from pre and post renal transplant settings were divided into three groups. Group A (n = 301) consisted of normal controls, while group B (n = 200) comprised of pathological controls that were HCV antibody (anti-HCV) positive but negative for cryoglobulins. Group C comprised of 56 anti-HCV positive, cryoglobulin positive patients. HLA-A, -B and -DRB1 loci were typed by polymerase chain reaction (PCR) method and relationship between HLA antigens, anti-HCV status and cryoglobulinaemia was analyzed. HLA-A*02, -B*57 and -DRB1*03 were more frequently found among group C members as compared to groups A and B. Only HLA-B* 57 occurrence reached statistical significance (14.3% versus 6% and 4%, corrected P-value = 0.045 and 0.012 and OR = 2.6 and 4 respectively) No differences in the distribution of HLA antigens were seen a...
Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (... more Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (PID), creating a problem in timely diagnosis and management. An unusual case of coeliac disease that was difficult to diagnose and manage because of its unusual clinical presentation. Initially diagnosed as celiac disease but showed poor response to standard therapy is reported. Frequent attacks of opportunistic infections led to immunodeficiency work-up that revealed natural killer cell (NK) deficiency with low serum IgA and IgG2 levels. The patient eventually succumbed to recurrent infections. The co-existence of PID is unusual in a patient with CD. This case report highlights the importance of investigating PID in patients with autoimmunity.
Objective: To find the relationship between human leukocyte antigens (HLA) and cryoglobulin posit... more Objective: To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in hepatitis C virus (HCV) infected individuals. Methods: Eligible individuals selected from pre and post renal transplant settings were divided into three groups. Group A (n=301) consisted of normal controls, while group B (n=200) comprised of pathological controls that were HCV antibody (anti-HCV) positive but negative for cryoglobulins. Group C comprised of 56 anti-HCV positive, cryoglobulin positive patients. HLA-A,-B and-DRB1 loci were typed by polymerase chain reaction (PCR) method and relationship between HLA antigens, anti-HCV status and cryoglobulinaemia was analyzed. Results: HLA-A*02,-B*57 and-DRB1*03 were more frequently found among group C members as compared to groups A and B. Only HLA-B * 57 occurrence reached statistical significance (14.3 % versus 6 % and 4%, corrected P-value = 0.045 and 0.012 and OR = 2.6 and 4 respectively) No differences in the distribution of ...
Immune mediated injuries comprise a major bulk of renal disorders that mostly manifest as acute o... more Immune mediated injuries comprise a major bulk of renal disorders that mostly manifest as acute or chronic glomerulonephritides. Besides initial investigations for renal disorders, diagnosis of immune mediated renal diseases requires a battery of immunological tests and renal histopathology. The laboratory tests include anti-nuclear antibodies (ANA) followed by anti-double stranded deoxyribonucleic acid antibodies (antidsDNA) and/or anti-extractable nuclear antigens (anti-ENA), complement levels (C3, C4, factor H), rheumatoid factor (RF), C reactive proteins (CRP), anti-streptococcal antibodies including anti streptolysin-O titer (ASOT) and anti-deoxyribonuclease B (anti-DNAse B), anti-neutrophilcytoplasmic antibodies (ANCA), anti-glomerular-basement membrane antibodies (anti-GBM), cryoglobulins detection, anti-phospholipid antibodies, nephritic factor, anti-phospholipase A2 receptor antibodies (anti-PLA2R) etc. The correct interpretation of these tests by an immunologist in collabo...
To investigate the association of cryoglobulinaemia and autoimmune markers with hepatitis C virus... more To investigate the association of cryoglobulinaemia and autoimmune markers with hepatitis C virus (HCV) infection in patients on maintenance haemodialysis (HD) and post renal transplantation. Serum samples of 103 HCV-antibody (anti-HCV) positive and 105 anti-HCV negative patients were investigated for cryoglobulins. These comprised 136 patients on HD and 72 renal transplant recipients. Serum creatinine and liver function tests were obtained on all patients. Rheumatoid factor (RF), anti nuclear antibodies (ANA), anti smooth muscle antibodies (ASMA), liver kidney microsomal antibodies (LKM), immunoglobulins (Igs) and complement levels were performed on all cryoglobulin positive (cryopositive) samples. HCV RNA and genotyping detection tests were done for cryopositive patients. The prevalence of cryoglobulins in patients on HD or after renal transplantation was found to be higher (57.6%) among anti-HCV positive patients compared to the anti-HCV negative patients (42.4%) (P=0.000). RF, A...
Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Auto... more Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status therefore presence of more than one disorder is not uncommon. Coexistence of three or more autoimmune diseases in a patient constitutes multiple autoimmune syndrome (MAS). This is an interesting case of a middle aged female who had celiac disease, primary biliary cholangitis, autoimmune hepatitis and evolving CREST (Calcinosis, Rhaynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia) syndrome. Case Report: Fifty years old female patient presented with generalized fatigue, fever, weight loss, vertigo and constipation. She was a diagnosed case of celiac disease, responded well to gluten free diet. Family history was unremarkable for any autoimmune disorder. Laboratory workup showed normal complete blood count, markedly elevated transaminases and alkaline phosphates. Her antinuclear antibodies (ANA) test was strongly positiv...
Objective: There are many cases of post-vaccination COVID-19 globally. Also, literature on serum ... more Objective: There are many cases of post-vaccination COVID-19 globally. Also, literature on serum antibodies after vaccination is abundant. Our research focuses on breakthrough infections reported at our institution during the third wave of COVID-19. Methods: A total of 177 people recruited at the Indus Hospital Karachi between May to September 2021 with COVID-19 infection were divided into vaccinated, partially vaccinated, and unvaccinated cohorts. Furthermore, a subset of the vaccinated cohort was tested for anti-NP and anti-S antibodies. Results: There were 119 patients with breakthrough infection, however, 74% had mild symptoms. The antibodies against NP and S were found at a higher level in those who had a breakthrough infection in comparison to healthy vaccinated controls. Conclusion: Vaccination does not prevent disease but does confer some immunity causing less severe infection. doi: https://doi.org/10.12669/pjms.39.5.6724 How to cite this: Hussain A, Sarfaraz S, Anis S, Shei...
Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifes... more Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death. Case Presentation LAD 1 is characterized by homozygous pathogenic variants in the integrin subunit beta 2 (ITGB2) gene. We report two cases of LAD1 with unusu...
Hyper Immunoglobulin E syndrome also called Job\u27s or Buckley Syndrome is a rare primary immuno... more Hyper Immunoglobulin E syndrome also called Job\u27s or Buckley Syndrome is a rare primary immunodeficiency disease characterized by elevated serum IgE levels (\u3e 2000 IU/ml), recurrent infections and eosinophilia. Other features include coarse facies and non-immunologic abnormalities of the dentition, bones, vasculature and connective tissues. We are reporting a case of a twenty four years old male with coarse facies who presented with severe pallor and upper gastrointestinal bleeding. Investigations revealed markedly elevated serum IgE levels (11,800 IU/ml), severe anaemia, esophageoduodenal erosions, Helicobacter pylori (H. pylori) gastritis and oro-esophageal candidiasis
Background:The diagnosis of autoimmune diseases (AID) is challenging, due to overlapping features... more Background:The diagnosis of autoimmune diseases (AID) is challenging, due to overlapping features with other non-immune disorders. Anti-nuclear antibodies (ANA) /anti-cellular antibodies are the sensitive screening tests but anti-double-stranded-deoxyribonucleic-acid-antibody (anti-ds-DNA), and anti-extractable nuclear antigens (anti-ENA) are specific for AIDs. We aimed to look at anti-ENA in our patients and correlated them with ANA patterns, anti-ds-DNA and clinical diagnosis for proper interpretation and better patient management cost-effectively. Methods:A retrospective data analysis of 654 patients was done (1st-February-2019 to 31st –July-2021) who were tested for anti-ENA at the Immunology Department of Indus Hospital and Health Network. ANA and anti-ds-DNA results and clinical diagnosis were also analyzed for anti-ENA-positive patients. The statistical analysis was performed using IBM SPSS 24.0, P < 0.05.was considered statistically significant.Results:Anti-ENA was positi...
Background: Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manife... more Background: Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delays management. Leucocyte adhesion defects (LAD) are a group of PIDs in which patients lack adhesion molecules on leukocytes needed for their emigration through blood vessels to the site of infection. Patients with LAD can present with diverse clinical features including severe and life-threatening infections, early in life, and the absence of pus formation around infection or inflammation. There is often delayed umbilical cord separation, omphalitis, late wound healing, and a high white blood cell count. If not recognized and managed early, can lead to life-threatening complications and death.Case Presentation:LAD 1 is characterized by a mutation in integrin subunit beta 2 (ITGB2). We report two cases of LAD1 with unusual presentations (post-circum...
Fifty five percent of the Pakistani population is still unvaccinated with the two-dose protocol o... more Fifty five percent of the Pakistani population is still unvaccinated with the two-dose protocol of COVID-19 vaccines. This study was undertaken to determine the seroconversion rate and antibody titers following the two-dose BBIBP-CorV protocol, and to compare these variables in unvaccinated, COVID-19 recovered individuals (total n = 180) at Indus Hospital and Health Network, Karachi. Pseudotyped lentivirus antibody neutralization assays and SARS-CoV-2 IgG Quant II (Abbott) immunoassays were performed 4-8 weeks following the second dose of the BBIBP-CorV or PCR positivity/onset of symptoms of COVID-19. Seroconversion rate, using neutralization assays, in vaccinated individuals was lower (78%) than that in unvaccinated, COVID-19-recovered individuals with moderate to severe infection (97%). Prior PCR positivity increased serocoversion rate to 98% in vaccinated individuals. Immunoassays did not, however, reveal significant inter-group differences in seroconversion rates (≥95% in all gr...
To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in he... more To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in hepatitis C virus (HCV) infected individuals. Eligible individuals selected from pre and post renal transplant settings were divided into three groups. Group A (n = 301) consisted of normal controls, while group B (n = 200) comprised of pathological controls that were HCV antibody (anti-HCV) positive but negative for cryoglobulins. Group C comprised of 56 anti-HCV positive, cryoglobulin positive patients. HLA-A, -B and -DRB1 loci were typed by polymerase chain reaction (PCR) method and relationship between HLA antigens, anti-HCV status and cryoglobulinaemia was analyzed. HLA-A*02, -B*57 and -DRB1*03 were more frequently found among group C members as compared to groups A and B. Only HLA-B* 57 occurrence reached statistical significance (14.3% versus 6% and 4%, corrected P-value = 0.045 and 0.012 and OR = 2.6 and 4 respectively) No differences in the distribution of HLA antigens were seen a...
Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (... more Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (PID), creating a problem in timely diagnosis and management. An unusual case of coeliac disease that was difficult to diagnose and manage because of its unusual clinical presentation. Initially diagnosed as celiac disease but showed poor response to standard therapy is reported. Frequent attacks of opportunistic infections led to immunodeficiency work-up that revealed natural killer cell (NK) deficiency with low serum IgA and IgG2 levels. The patient eventually succumbed to recurrent infections. The co-existence of PID is unusual in a patient with CD. This case report highlights the importance of investigating PID in patients with autoimmunity.
Objective: To find the relationship between human leukocyte antigens (HLA) and cryoglobulin posit... more Objective: To find the relationship between human leukocyte antigens (HLA) and cryoglobulin positivity in hepatitis C virus (HCV) infected individuals. Methods: Eligible individuals selected from pre and post renal transplant settings were divided into three groups. Group A (n=301) consisted of normal controls, while group B (n=200) comprised of pathological controls that were HCV antibody (anti-HCV) positive but negative for cryoglobulins. Group C comprised of 56 anti-HCV positive, cryoglobulin positive patients. HLA-A,-B and-DRB1 loci were typed by polymerase chain reaction (PCR) method and relationship between HLA antigens, anti-HCV status and cryoglobulinaemia was analyzed. Results: HLA-A*02,-B*57 and-DRB1*03 were more frequently found among group C members as compared to groups A and B. Only HLA-B * 57 occurrence reached statistical significance (14.3 % versus 6 % and 4%, corrected P-value = 0.045 and 0.012 and OR = 2.6 and 4 respectively) No differences in the distribution of ...
Immune mediated injuries comprise a major bulk of renal disorders that mostly manifest as acute o... more Immune mediated injuries comprise a major bulk of renal disorders that mostly manifest as acute or chronic glomerulonephritides. Besides initial investigations for renal disorders, diagnosis of immune mediated renal diseases requires a battery of immunological tests and renal histopathology. The laboratory tests include anti-nuclear antibodies (ANA) followed by anti-double stranded deoxyribonucleic acid antibodies (antidsDNA) and/or anti-extractable nuclear antigens (anti-ENA), complement levels (C3, C4, factor H), rheumatoid factor (RF), C reactive proteins (CRP), anti-streptococcal antibodies including anti streptolysin-O titer (ASOT) and anti-deoxyribonuclease B (anti-DNAse B), anti-neutrophilcytoplasmic antibodies (ANCA), anti-glomerular-basement membrane antibodies (anti-GBM), cryoglobulins detection, anti-phospholipid antibodies, nephritic factor, anti-phospholipase A2 receptor antibodies (anti-PLA2R) etc. The correct interpretation of these tests by an immunologist in collabo...
To investigate the association of cryoglobulinaemia and autoimmune markers with hepatitis C virus... more To investigate the association of cryoglobulinaemia and autoimmune markers with hepatitis C virus (HCV) infection in patients on maintenance haemodialysis (HD) and post renal transplantation. Serum samples of 103 HCV-antibody (anti-HCV) positive and 105 anti-HCV negative patients were investigated for cryoglobulins. These comprised 136 patients on HD and 72 renal transplant recipients. Serum creatinine and liver function tests were obtained on all patients. Rheumatoid factor (RF), anti nuclear antibodies (ANA), anti smooth muscle antibodies (ASMA), liver kidney microsomal antibodies (LKM), immunoglobulins (Igs) and complement levels were performed on all cryoglobulin positive (cryopositive) samples. HCV RNA and genotyping detection tests were done for cryopositive patients. The prevalence of cryoglobulins in patients on HD or after renal transplantation was found to be higher (57.6%) among anti-HCV positive patients compared to the anti-HCV negative patients (42.4%) (P=0.000). RF, A...
Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Auto... more Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status therefore presence of more than one disorder is not uncommon. Coexistence of three or more autoimmune diseases in a patient constitutes multiple autoimmune syndrome (MAS). This is an interesting case of a middle aged female who had celiac disease, primary biliary cholangitis, autoimmune hepatitis and evolving CREST (Calcinosis, Rhaynaud’s phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia) syndrome. Case Report: Fifty years old female patient presented with generalized fatigue, fever, weight loss, vertigo and constipation. She was a diagnosed case of celiac disease, responded well to gluten free diet. Family history was unremarkable for any autoimmune disorder. Laboratory workup showed normal complete blood count, markedly elevated transaminases and alkaline phosphates. Her antinuclear antibodies (ANA) test was strongly positiv...
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