Ann Pediatr Res | Volume 8, Issue 1 | Case Report | Open Access

Cartilage Hair Hypoplasia and Atypical SCID: A Case Report

Shamim J^*, Salazar L and Lindsay D

Department Of Pediatrics, University of Texas Medical Branch (UTMB), USA

^*Correspondance to: Javeria Shamim 

Abstract

Cartilage Hair Hypoplasia (CHH) is an autosomal recessive genetic disorder, characterized by skeletal abnormalities, thin and sparse hair, immune dysfunction, cognitive deficiency and in some cases, associated with Hirschsprung's disease. CHH is caused by biallelic pathogenic variants in the RMRP gene on chromosome 9p13.3 which impairs lymphocyte cell growth and accelerated apoptosis, resulting in immunodeficiency. This case is atypical. Our patient had low lymphocyte levels on flow cytometry, abnormal NBS/T Cell Receptor Excision Circles (TREC) count, abnormally low Recent Thymic Emigrants (RTEs) and low naive T-cells on lymphocyte subset panel and known RMRP mutation indicates probable atypical, or leaky, SCID predisposing her to opportunistic infection. Upon further investigation for immune phenotyping, IgG and IgM were normal with absent IgA. There was no evidence of a monoclonal T cell population on T Cell clonality screening by PCR.

Keywords:

Cartilage Hair Hypoplasia; Atypical SCID; Cartilage-hair hypoplasia – an auxetic dysplasia; RMRP mutation; T Cell Receptor Excision Circles; Rhizomelic limbs; Opportunistic infection; IgA

Citation:

Shamim J, Salazar L, Lindsay D. Cartilage Hair Hypoplasia and Atypical SCID: A Case Report. Ann Pediatr Res. 2024; 8(1): 1083..