Open AccessA case report of severe combined immunodeficiency: Masquerading as sepsis
Author(s) -
Subhranshu sekhar Dhal,
Hiremath Sagar,
Rajiv Aggarwal,
Anilkumar Sapare,
Minal Kekatpure
Publication year - 2022
Publication title -
indian journal of child health
Language(s) - English
Resource type - Journals
eISSN - 2349-6126
pISSN - 2349-6118
DOI - 10.32677/ijch.v9i3.3369
Subject(s) - failure to thrive , severe combined immunodeficiency , sepsis , immunology , pneumocystis carinii , immunodeficiency , primary immunodeficiency , diarrhea , pneumonia , exome sequencing , medicine , tuberculosis , virology , biology , mutation , human immunodeficiency virus (hiv) , pediatrics , gene , gastroenterology , pathology , immune system , genetics , pneumocystis jirovecii
Severe combined immunodeficiency (SCID) is a rare genetic disorder caused by diverse genetic mutations which lead to the absence or defective T cell, B cell, and Natural killer cell functions. It is usually present in the first 6 months of life and is caused by 20 different mutations. SCID defined by their cellular phenotypes such as T-B+NK+, T-B-NK-, T-B+NK-, and T-B-NK+. Various manifestations are sepsis, disseminated tuberculosis following the Bacillus Calmette–Guerin vaccine, candidiasis, Pneumocystis carinii pneumonia, severe viral infections, chronic diarrhea, failure to thrive, and malabsorption. We report a case of T-B+NK- SCID in a 5-month-old male child, who presented with fever, rash, and loose stool, and the diagnosis was confirmed by whole-exome sequencing.