Jahnavi Aluri

Indiana Biosciences Research Institute

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Manisha Madkaikar

National Institute of Immunohaematology

Maya Gupta

National Institute of Immunohaematology

Aparna Dalvi

Universidade do Estado do Rio de Janeiro

Megan A. Cooper

St. Louis Children's Hospital

Manasi Kulkarni

National Institute of Immunohaematology

Prasad Taur

Bai Jerbai Wadia Hospital for Children

Mukesh Desai

Bai Jerbai Wadia Hospital for Children

Snehal Shabrish

National Institute of Immunohaematology

Priyanka Kambli

National Institute of Immunohaematology

Umair Ahmed Bargir

National Institute of Immunohaematology

Cooperative Institutions

National Institutes of Health

National Institute of Allergy and Infectious Diseases

Washington University in St. Louis

Indian Council of Medical Research

National Institute of Immunohaematology

Charles University

University Hospital in Motol

Inserm

Pediatrics and Genetics

Centre National de la Recherche Scientifique

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Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

Frontiers in Immunology (2020)

Reetika Malik Yadav Maya Gupta Aparna Dalvi Umair Ahmed Bargir Gouri Hule

Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant burden of disease. This paper discusses the prenatal services available for affected families at various centers across the country and the challenges and ethical considerations associated with genetic counseling. Mutation detection in the index case and analysis of chorionic villous sampling or amniocentesis remain the preferred procedures for PND and phenotypic analysis of cordocentesis sample is reserved for families with well-characterized index case seeking PND in the latter part of the second trimester of pregnancy. A total of 112 families were provided PND services in the last decade and the presence of an affected fetus was confirmed in 32 families. Post-test genetic counseling enabled the affected families to make an informed decision about the current pregnancy.

Amniocentesis

Primary Immunodeficiency

Chorionic villus sampling

10.3389/fimmu.2020.612316

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Citations (5)

Novel STAT1 gain-of-function variant in a patient with Bechet’s like clinical phenotype

Clinical Immunology (2023)

Jahnavi Aluri Erica G. Schmitt Ana Kolicheski Matthew Du Nermina Saucier

STAT1

Immunophenotyping

Chronic mucocutaneous candidiasis

10.1016/j.clim.2023.109371

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A Case of Severe Combined Immunodeficiency Missed by Newborn Screening

Journal of Clinical Immunology (2021)

Maleewan Kitcharoensakkul Jahnavi Aluri Ibrahim Elsharkawi Ashley L. Steed Christopher D. Putnam

Medical microbiology

Primary Immunodeficiency

Immunologic Deficiency Syndromes

10.1007/s10875-021-01020-8

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Citations (5)

Clonal Evolution of Cutaneous T Cell Lymphoma Revealed at Single Cell Resolution

Blood (2022)

Hannah K. Dorando Jared Andrews Nicholas Borcherding Chaz Quinn Jennifer A. Schmidt

10.1182/blood-2022-163645

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The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India

Frontiers in Immunology (2021)

Snehal Shabrish Madhura Kelkar Reetika Malik Yadav Umair Ahmed Bargir Maya Gupta

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in PRF1, UNC13D, STX11 , and STXBP2 genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population. This study is a retrospective analysis of 101 molecularly characterized FHL patients over the last 10 years from 20 different referral centers in India. FHL2 and FHL3 together accounted for 84% of cases of FHL in our cohort. Patients belonging to different FHL subtypes were indistinguishable based on clinical and biochemical parameters. However, flow cytometry-based assays viz. perforin expression and degranulation assay were found to be specific and sensitive in diagnosis and classification of FHL patients. Molecular characterization of respective genes revealed 76 different disease-causing mutations including 39 (51%) novel mutations in PRF1, UNC13D, STX11 , and STXBP2 genes. Overall, survival was poor (28%) irrespective of the age of onset or the type of mutation in our cohort. Altogether, this article sheds light on the current scenario of FHL in India. Our data reveal a wide genetic heterogeneity of FHL in the Indian population and confirms the poor prognosis of FHL. This study also emphasizes that though mutational analysis is important for diagnostic confirmation of FHL, flow cytometry based assays help significantly in rapid diagnosis and functional validation of novel variants identified.

Hemophagocytic Lymphohistiocytosis

Immune Dysregulation

10.3389/fimmu.2021.612583

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Citations (16)

Lymphopenia and Severe Combined Immunodeficiency (SCID) - Think Before You Ink

The Indian Journal of Pediatrics (2019)

Jahnavi Aluri Maya Gupta Aparna Dalvi Snehal Mhatre Manasi Kulkarni

Primary Immunodeficiency

Immunodeficiency Syndrome

Cellular immunity

10.1007/s12098-019-02904-9

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Citations (4)

Clinical Characteristics, Management, and Allogeneic Hematopoietic Cell Transplantation of Patients with Toll-like Receptor 8 Gain-of-Function Mutations

Blood (2023)

Danielle E. Arnold Saara Kaviany Jahnavi Aluri Luis Murguia‐Favela Nicola Wright

Congenital Neutropenia

Hypogammaglobulinemia

10.1182/blood-2023-185110

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Multi-omic studies in Cutaneous T Cell Lymphoma (CTCL) reveal progression-associated alterations in epigenetic and lymphocyte signaling pathways

The Journal of Immunology (2024)

Jacqueline E. Payton Hannah K. Dorando Jared Andrews Nicholas Borcherding Chaz Quinn

Abstract Patients with advanced stage CTCL have a 20% 5-year survival rate and molecular factors that drive disease progression are undefined. To address this, we collected 52 longitudinal tumor and normal samples from 10 CTCL patients and subjected them to exome + whole genome (eWGS), single-cell (sc)RNA and TCR sequencing. Clustering and cell-type inference of scRNAseq (UMAP/Seurat/singleR) from 92496 total cells showed canonical CTCL marker genes and high proportions of patient-specific TCR clonotypes. Somatic genome copy number alterations (CNA) and deleterious/damaging single nucleotide variants (SNV) (cnvkit, GATK/Mutect2, copykat, cb_sniffer) were identified. We defined molecular changes associated with progression and/or resistance to therapy (APR) as CNA and SNV detected in samples collected at later timepoints with progression and/or lack of therapy response in >30% of patients. This novel approach identified pathways in chromatin modification, particularly DNA and histone methylation, lymphocyte signaling and transcriptional regulation. A novel-to-CTCL SNV in STAT3 had gain-of-function activity and aberrant genomic binding (CUT&RUNseq). CNA and mutant allele levels correlate with disease progression and therapy response in scRNAseq. Our findings represent new insights into CTCL progression, reveal new markers for response assessment, and identify new targets for therapeutic development. Based on these results, we have initiated two clinical trials at WUSM.

Cutaneous T-cell lymphoma

10.4049/jimmunol.212.supp.1423.5715

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Interferon-α promotes HLA-B-restricted presentation of conventional and alternative antigens in human pancreatic β-cells

Nature Communications (2025)

Alexia Carré Fatoumata Samassa Zhicheng Zhou Javier Perez-Hernandez Christiana Lekka

Interferon (IFN)-α is the earliest cytokine signature observed in individuals at risk for type 1 diabetes (T1D), but the effect of IFN-α on the antigen repertoire of HLA Class I (HLA-I) in pancreatic β-cells is unknown. Here we characterize the HLA-I antigen presentation in resting and IFN-α-exposed β-cells and find that IFN-α increases HLA-I expression and expands peptide repertoire to those derived from alternative mRNA splicing, protein cis-splicing and post-translational modifications. While the resting β-cell immunopeptidome is dominated by HLA-A-restricted peptides, IFN-α largely favors HLA-B and only marginally upregulates HLA-A, translating into increased HLA-B-restricted peptide presentation and activation of HLA-B-restricted CD8+ T cells. Lastly, islets of patients with T1D show preferential HLA-B hyper-expression when compared with non-diabetic donors, and islet-infiltrating CD8+ T cells reactive to HLA-B-restricted granule peptides are found in T1D donors. Thus, the inflammatory milieu of insulitis may skew the autoimmune response toward alternative epitopes presented by HLA-B, hence recruiting T cells with a distinct repertoire that may be relevant to T1D pathogenesis.

10.1038/s41467-025-55908-9

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Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India

Frontiers in Immunology (2018)

Jahnavi Aluri Maya Gupta Aparna Dalvi Snehal Mhatre Manasi Kulkarni

Major Histocompatibility Complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID), characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+T helper(Th) cells and Th cell-dependent antibody production by B cells. Affected children typically present with severe respiratory and gastrointestinal tract infections. Hematopoietic Stem Cell Transplantation (HSCT) is the only curative therapy available for treating these patients. This is the first report from India wherein we describe the clinical, immunological, and molecular findings in 5 patients with MHC class II deficiency. All patients presented with recurrent lower respiratory tract infection as the most common clinical presentation within their first year of life and had a complete absence of HLA-DR (Human Leukocyte Antigen–antigen D Related) expression on B cells and monocytes. Molecular characterization revealed novel mutations in RFAXP, RFX5 and CIITA genes. Despite genetic heterogeneity, these patients were clinically indistinguishable. Two patients underwent HSCT but had a poor survival outcome. Detectable level of T cell receptor excision circles (TRECs) were measured in our patients, highlighting that this form of PID may be missed by TREC based newborn screening program for Severe Combined Immunodeficiency (SCID).

Histocompatibility

10.3389/fimmu.2018.00188

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Citations (31)