Introduction Human leukocyte antigen B27 (HLA-B27) is strongly implicated in the pathogenesis of ankylosing spondylitis (AS). Hence, HLA-B27 testing is routinely used in the diagnosis of AS. Objectives We aimed to establish the frequency of HLA-B27 in AS patients by flow cytometry and relate the differences between B27+ and B27-cases to the serum concentrations of rheumatoid arthritis factor (RA), erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP). Methods The study population included a total of 210 patients who visited the tertiary health care center. The peripheral blood samples obtained from AS patients were subjected to a qualitative two-color direct immunofluorescence method using the HLA-B27/CD3 antibody for the rapid detection of HLA-B27 antigen expression in erythrocyte-lysed whole blood in FACSCalibur flow cytometer (Becton Dickinson, USA). Results Out of 210 AS patients, the distribution of HLA-B27 positivity was observed only in 46 (22%) patients. The remaining 164 patients (78.1%) were negative for HLA-B27. Of the 46 HLA positive patients, 39 (25.34%) were males and only seven (12.5%) were females. In both sexes, HLA-B27 frequency was significantly higher in the age group 21-30 years, followed by 41-50 years. The current study also revealed a significant association between sex and age of onset of HLA-B27 detection in patients with suspected AS. Disease activity was not significantly correlated with RA, ESR, and CRP. Conclusions The detection of HLA-B27 by flow cytometry proved to be a reliable test in the screening of AS in the Indian population.

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Introduction Viral pneumonia caused by severe acute respiratory syndrome coronavirus 2 (SARS COV-2) releases cytokines which result in neutrophils migration to the bloodstream and cytotoxic effect on lymphocytes. The ongoing pathology is reflected in the derangement of blood cells and the variations and calculations based on them that help in assessing the severity of the disease and prognosis. Aim This study aimed to compare the differences in the dynamic changes of the blood cells among survivors and non-survivors of COVID-19 disease so that cut-offs can be arrived at to aid triage at the intensive care unit (ICU) and to predict mortality. Material and methods A one-year study was conducted on patients hospitalized in the ICU. The demography and laboratory values of neutrophils and lymphocytes in percentages and absolute values, and platelet count in numbers were retrieved for eight consecutive values. Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) was calculated from absolute counts. Statistical analysis was done using the Chi-Square test and Mann-Whitney test and a P-value of <0.05 is considered significant. The comparison was done between survivors and non-survivors. Result Among the 3142 patients admitted for COVID-19 disease, 7.6% required ICU care of whom 65.5% survived and 35.5% succumbed to the illness. Survivors were younger and comparable between both sexes. Though both groups had an ascending trend of neutrophils, lymphocytes, NLR, and PLR, the baseline characteristics were significantly lower in those who survived on a day-to-day basis. Neutrophilia above 80%, NLR 7.96, PLR 200 predicted the need for admission in ICU. Neutrophilia of 87% and lymphopenia of 10% were associated with adverse outcomes (mortality). Mortality can be predicted when neutrophil rises above 93% or lymphocytes fall below 5.2%. An initial NLR of 7.96 and PLR of 160 as well as peak NLR of 12.29 and peak PLR 400 predict mortality. Conclusion Serial blood counts are essential for hospitalized patients with COVID-19 for early triaging, and to assess severity and prognosis. The NLR of 6.7 and PLR of 160 require intensive care. The dynamic increase of NLR and PLR show worsening of the disease process and NLR of 40.95 and PLR of 400 predict mortality.

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Megaloblastic anaemia is one of the important causes of pancytopenia in children and nutritional deficiencies of vitamin B12 and folate are the most common causes comprising 95% of these cases. Defects in absorption, transport and metabolism of vitamin B12 are well described, however, are very rare. We report a rare case of Imersland Grasbeck syndrome, in an infant who presented with pancytopenia, with defective absorption of B12-intrinsic factor complex at the ileum and defective tubular reabsorption of proteins in renal tubule due to same protein defect caused by mutations in two genes – CUBN (cubilin) and AMN (amnionless).

exon-2 (c.410C>T) leading to CTLA-4 haplo-insufficiency suggestive of ALPS-Type-V. Child was started on steroids 2 mg/kg/d and Sirolimus (titrated to levels 8-12 ng/L). He is doing well with regression of lymphadenopathy/splenomegaly and normal counts.CTLA-4 haploinsufficiency with Autoimmune Infiltration (CHAI), due to haplo-insufficiency of CTLA-4 inhibitory T-cell receptor leads to severe immune dysregulation and lymphocytic infiltration of organs including but not limited to lungs, brain and gastro-intestinal system [2]. CHAI, common in older children and young adults, has predisposition to develop lymphoma due to hyperproliferation of lymphocytes [3]. Steroids, Sirolimus and Mycophenolate mofetil are main-stay of therapy; Abatacept, competing with CD-28 inhibiting co-stimulatory signalling and T-cell activation is effective. Allogeneic stem cell transplantation is rarely necessary [4].High index of suspicion and judicious use of clinical exome sequencing help to characterize these rare disorders better.

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