Introduction: CHH RMRP related disease is an autosomal recessive disorder, characterised by metaphyseal chondrodysplasia, fine, sparse hair and variable immune compromise. 22 patients with CHH phenotype have been evaluated at our institution since 1987. We report an affected female with an invasive infection by Nocardia spp, not previously reported in this disease. Case report: She is the first and only child of a healthy, non-consanguineous couple, without familial history for IEI, with prenatal suspicion of skeletal dysplasia. At 4 months old she presented short-limbed, short stature, narrow chest with short ribs, metaphyseal skeletal dysplasia, alopecia and xerosis. CHH with SCID-like phenotype was suspected: CD3 22% = 228/mm3 CD4 16% = 166/mm3, CD4/CD45RA 3%. NK cells and B cells were present with normal gamma globulin levels (IgG, IgM, IgA, IgE). Lymphocyte proliferation to mitogens and antigens was almost absent and a restricted TCR repertoire was observed. Maternal T cells were excluded by a sorting T. Regarding the infectious compromise, she presented locoregional adenitis associated with the BCG inoculation site, multiple subcutaneous nodules and pulmonary, liver and brain abscess. However, blood and respiratory secretions cultures were all negative for mycobacteria. Finally, a brain and a soft tissue biopsy resulted positive for Nocardia spp. Treatment with trimethoprim sulfamethoxazole was started with clear improvement of brain, liver and lung lesions in the CT scan. Discussion/Conclusion:
The detection of Nocardia spp. in the brain biopsy allowed us to make the infectological diagnosis and implement an effective treatment against this opportunistic agent not previously reported in CHH up to date in the PubMed database and that probably accounted in this patient due to his SCID-Like phenotype.