Uncovering a Pediatric Immunodeficiency Part 2

ABSTRACT 

In Part I of this series the diagnosis of a pediatric immunodeficiency was discussed. In that article key history and exam findings were discussed to help alert the clinician to a problem.

Part II will further the knowledge of immunodeficiencies by describing some of the common immunodeficiencies. Diseases affecting neutrophil granule function, specific B-cell or T-cell function, combined T and B cell function and newer syndromes that have multi-system involvement, their diagnosis, and treatment are presented here. The genetic links for many of these diseases are known, and described in this article. Today most large medical centers are able to perform the appropriate diagnostic testing to assure early diagnosis and rapid treatment with aggressive antibiotic regimens and intravenous immunoglobulin. In many cases early bone marrow transplantation is curative or vital to survival. The diagnosis of an immunodeficiency in a child can be overwhelming to the family as well as the primary care clinician. A well armed clinician, knowledgable in the principles of immunodeficiencies, their diagnosis, and treatment can be an active and vital member of the multi-disciplinary team that will care for these challenging children.

Keywords:  adaptive immune system , APECED , ataxia , telangectasis , B cell , bone marrow transplantation , Chediak-Higashi , chronic granulomatous disease , combine immunodeficiency , common variable immunodeficiency , DiGeorge Syndrome , EDA-ID , gene therapy , T cell , WHIM