Combined immunodeficiency due to partial RAG1 deficiency

MedGen UID:: 372161
•Concept ID:: C1835931
•: Disease or Syndrome

Synonym:	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	RAG1 (11p12)

Monarch Initiative:	MONDO:0012359
OMIM®:	609889
Orphanet:	ORPHA231154

Definition

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCombined immunodeficiency due to partial RAG1 deficiency

Non-SCID combined immunodeficiency
- Combined immunodeficiency due to partial RAG1 deficiency

Follow this link to review classifications for Combined immunodeficiency due to partial RAG1 deficiency in Orphanet.

Recent clinical studies

Etiology

Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.

Castiello MC, Di Verniere M, Draghici E, Fontana E, Penna S, Sereni L, Zecchillo A, Minuta D, Uva P, Zahn M, Gil-Farina I, Annoni A, Iaia S, Ott de Bruin LM, Notarangelo LD, Pike-Overzet K, Staal FJT, Villa A, Capo V
Front Immunol 2023;14:1268620. Epub 2023 Nov 13 doi: 10.3389/fimmu.2023.1268620. PMID: 38022635 Free PMC Article

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K
Blood 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. PMID: 11133745

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Diagnosis

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.

Ohm-Laursen L, Nielsen C, Fisker N, Lillevang ST, Barington T
J Clin Immunol 2008 Sep;28(5):588-92. Epub 2008 Jul 1 doi: 10.1007/s10875-008-9210-7. PMID: 18592361

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

See all (2)