Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. Whilst search for HLA matched unrelated donor for haematopoietic stem cell transplantation (HSCT) was underway, she developed rapidly progressive EBV-related lymphoproliferative disorder requiring laparotomy and small bowel resection, and was treated with anti-B cell monoclonal antibody and eventually curative allogeneic HSCT. Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features.
Department of Paediatric Rheumatology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Liza J
LJ
McCann
Jo
J
McPartland
Dawn
D
Barge
Lisa
L
Strain
David
D
Bourn
Eduardo
E
Calonje
Julian
J
Verbov
Andrew
A
Riordan
George
G
Kokai
Chris M
CM
Bacon
Michael
M
Wright
Mario
M
Abinun
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003872:Dermatitis / Q000473:pathology; D004392:Dwarfism; D005260:Female; D006099:Granuloma / Q000473:pathology; D006197:Hair / Q000002:abnormalities*; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D016130:Immunophenotyping; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010641:Phenotype; D000081207:Primary Immunodeficiency Diseases; D011859:Radiography; D016693:Receptors, Antigen, T-Cell, alpha-beta / Q000378:metabolism; D013601:T-Lymphocytes / Q000378:metabolism; D014184:Transplantation, Homologous; D016896:Treatment Outcome
D016693:Receptors, Antigen, T-Cell, alpha-beta