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BACKGROUND Extranodal marginal zone lymphomas are rare groups of B cell lymphomas that arise in mucosa associated lymphoid tissues of various sites. Strong association with autoimmunity and certain infections are its distinct features. Diagnosis is by histology with immunophenotyping alongside ruling out other low-grade lymphomas. In this study we wanted to analyse MALTomas with regard to their clinical features, relation to autoimmunity, histological and immunohistochemical profile. METHODS This is a descriptive study conducted from 2013 to 2018 at a tertiary care centre in North Kerala. Study sample included all cases of extranodal lymphomas obtained retrospectively from 2013 to 2017 and prospectively from 2017 to 2018. Blocks of all specimens were cut and stained with haematoxylin and eosin (H & E) and immunohistochemical markers. RESULTS Out of the 15 cases we analysed, the most common sites of involvement were gastrointestinal tract (40 %) followed by thyroid (27 %). Thyroid, which is a rarer site for MALT lymphoma, is detected as one of the frequent sites in this study. In our study, stomach was one of the less common site affected which is in contrast to other studies. Associated autoimmune disorder was detected in 20 % of cases. 46 % of cases show features of transformation to high grade lymphoma. CONCLUSIONS This study analysed the features of MALT lymphomas in different sites and found a strong association with autoimmune disorders. Rarer sites like thyroid were found to be more frequently involved and common sites like stomach was detected in only small percentage of cases. Although most cases are indolent low-grade lymphomas, possibility of transformation to a high-grade B cell lymphoma should always be considered when dealing with these cases. Utility of immunohistochemistry in ruling out other small cell lymphomas is also well demonstrated in this study. KEYWORDS Extranodal Marginal Zone Lymphoma, MALToma, Autoimmune Disorders, Immunohistochemistry

Severe combined immunodeficiency is a large clinically heterogeneous group of disorders caused by a defect in the development of humoral or cellular immune responses. At least 13 genes are known to be involved in the pathophysiology of the disease and the mutation spectrum in SCID has been well documented. Mutations of the recombination-activating genes RAG 1 and RAG 2 are associated with a range of clinical presentations including, severe combined immunodeficiency and autoimmunity. Recently, our understanding of the molecular basis of immune dysfunction in RAG deficiency has improved tremendously with newer insights into the ultrastructure of the RAG complex. In this report, we describe the application of whole exome sequencing for arriving at a molecular diagnosis in a child suffering from B- T- NK+ severe combined immunodeficiency. Apart from making the accurate molecular diagnosis, we also add a genetic variation c.2308G>A p.E770K to the compendium of variations associated with the disease.