Children of the year pid case series.pptx

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1. Introduction PID refers to a group of d/o caused by defects in the immune system, which lead to increased susceptibility to infections, auto-immune diseases, and malignancies. These are usually genetic, and present at birth, although they may manifest at any age. Clinical features and investigations Recurrent/ severe/ sentinel infections Fever without focus Periodontitis Poor formation of pus at a site Unusual inflammatory diseases infections with unusual pathogens( opportunistic pathogens) Infections resulting from live vaccines .

2. CASE SERIES Case 1 Case 2 Case 3 Case 4 Case 5 CLINICAL PRESENTATION Fever, Epistaxis, gum bleeding, blood-stained stools. since 3 days Cough cold, fever, breathlessness since one week Fever, cough & cold, breathing difficulty since one day Fever, generalised lymphadenopathy since 5 days Fever, vomiting, LRTI for 6 days SIGNIFICANT FEATURES Loose stools on and off since 9months, hypo-pigmented lesions, fever, bleeding manifestations Recurrent LRTI since 7 months, developmental delay Failure to thrive, h/o recurrent pneumonia for 2 years, SAM Recurrent axillary abscess since 7 months, bronchopneumonia, SAM Recurrent LRTI & recurrent febrile illness since 1 year, mild eczema CLINICAL PICTURE

3. Case 1 Case 2 Case 3 Case 4 Case 5 INVESTIGATION Anaemia-10.4, thrombocytopenia-51000, Elevated IgE- 15848.2 U/ml , decreased MPV 6.9 fL Anaemia-10.4, normal total count, CXRAY- R UL consolidation, CT- F/S/O bronchiectasis, normal IgG- 1003 & low IgM- 32, elevated IgE – 2762 Anaemia-10.4, mildly elevated total count-13000, thrombocytopenia-95000, decreased immunoglobulin levels Anaemia-9.3, Elevated total count-17200, FNAC – F/S/O tubercular abscess, elevated IgG-1100, IgM-139, IgE-128 ANC < 500 , High eosinophil count->800, persistently elevated IgE levels- >3000 IU/ml GENE REPORT A Hemizygous in-frame indel variant in exon 1 of the WAS gene. A homozygous variant in intron 4 of LRBA gene – IMMUNODEFICIENCY common variable (AR) A Homozygous frameshift variant in exon 5 of IL2IR gene – IMMUNODEFICIENCY 56 (AR) A homozygous nonsense variant in exon 9 of IL12RB1 gene – IMMUNODEFICIENCY 30 (AR) A heterozygous variant in exon 2 of ELANE gene – severe CONGENITAL NEUTROPENIA (AD) TREATMENT Steroids and IvIg On prophylactic antibiotics IvIg and oxygen support On ATT On prophylactic antibiotics FOLLOW-UP On monthly follow-up On monthly follow-up Expired On monthly follow-up On monthly follow-up CASE SERIES – contd.,

4. Treatment Infection management Immunoglobulin replacement therapy HSCT Gene therapy Enzyme replacement therapy Cytokine & growth factor therapy Management of complications Nutrition support Patient and family education Conclusion Primary immunodeficiency disorders (PIDs) are a group of inherited conditions characterized by defects in the immune system, leading to increased susceptibility to infections. The complexity of their clinical presentation, genetic diversity, low prevalence, lack of awareness, delayed onset, overlapping with secondary infections, subtle signs, and the need for sophisticated diagnostic tools pose significant challenges. Therefore, Early diagnosis and treatment are crucial to improving the quality of life and outcomes for individuals with PIDs.