{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T22:56:24Z","timestamp":1768258584485,"version":"3.49.0"},"reference-count":0,"publisher":"Esmon Publicidad, SA","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Investig Allergol Clin"],"published-print":{"date-parts":[[2023,7,26]]},"abstract":"<jats:p>Introduction: Cartilage-hair hypoplasia (CHH) syndrome is a rare autosomal recessive syndrome associated with skeletal dysplasia, varying degrees of combined immunodeficiency (CID), short stature, hair hypoplasia, macrocytic anemia, increased risk of malignancies, and Hirschsprung disease. Purpose: To provide clinical and immunological insights obtained from 2 unrelated patients who displayed clinical characteristics of CHH. Methods: Two patients with suspected CHH syndrome due to skeletal dysplasia and immunodeficiency underwent an immunological and genetic work-up using flow cytometry, next-generation sequencing (NGS) of the immune repertoire, and Sanger sequencing to identify the underlying defects. Results: Patient 1 presented with low birth weight and skeletal dysplasia. Newborn screening was suggestive of T-cell immunodeficiency, as T-cell receptor excision circle levels were undetectable. Both the T-cell receptor (TCR) V\u00df and TCR-g (TRG) repertoires were restricted, with evidence of clonal expansion. Genetic analysis identified compound heterozygous RMRP variants inherited from both parents. Patient 2 presented with recurrent lung and gastrointestinal infections, skeletal dysplasia, failure to thrive, and hepatomegaly. The polyclonal pattern of the TCR\u00df repertoire was normal, with only slight overexpression of TCR-\u00dfV20 and restricted expression of V\u00dfs. TRG expressed a normal diverse repertoire, similar to that of the healthy control sample. Genetic analysis identified biallelic novel regulatory variants in RMRP. Both parents are carriers of this mutation. Conclusion: Our findings demonstrate how the immunological work-up, supported by genetic findings, can dramatically change treatment and future outcome in patients with the same clinical syndrome.<\/jats:p>","DOI":"10.18176\/jiaci.0792","type":"journal-article","created":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T16:17:32Z","timestamp":1644509852000},"page":"263-270","source":"Crossref","is-referenced-by-count":6,"title":["Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course"],"prefix":"10.18176","volume":"33","author":[{"given":"A","family":"Gamliel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YN","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Lev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"AbuZaitun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Rechavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Levy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"AJ","family":"Simon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Somech","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7491","published-online":{"date-parts":[[2023,7,27]]},"container-title":["Journal of Investigational Allergy and Clinical Immunology"],"original-title":["English"],"deposited":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T11:41:44Z","timestamp":1690458104000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jiaci.org\/summary\/vol33-issue4-num2721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,26]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,7,27]]},"published-print":{"date-parts":[[2023,7,26]]}},"URL":"https:\/\/doi.org\/10.18176\/jiaci.0792","relation":{},"ISSN":["1018-9068"],"issn-type":[{"value":"1018-9068","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7,26]]}}}