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T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

MedGen UID:
1842915
•Concept ID:
C5679577
•
Disease or Syndrome
Synonyms: IL-7R; IL-7Ralpha deficiency; interleukin-7 receptor alpha deficiency; T-B+ SCID due to IL-7Ralpha deficiency
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)
 
Monarch Initiative: MONDO:0015701
Orphanet: ORPHA169154

Definition

A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

Recent clinical studies

Diagnosis

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.
Mackeh R, El Bsat Y, Elmi A, Bibawi H, Karim MY, Hassan A, Lo B
J Clin Immunol 2024 Apr 8;44(4):96. doi: 10.1007/s10875-024-01688-8. PMID: 38587703Free PMC Article
A perspective on IL-7Rα deficient T-B+NK+ severe combined immunodeficiency.
Xinghan KF, Harkensee C
Pediatr Infect Dis J 2015 Mar;34(3):301-3. doi: 10.1097/INF.0000000000000543. PMID: 25191848

Prognosis

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.
Mackeh R, El Bsat Y, Elmi A, Bibawi H, Karim MY, Hassan A, Lo B
J Clin Immunol 2024 Apr 8;44(4):96. doi: 10.1007/s10875-024-01688-8. PMID: 38587703Free PMC Article

Clinical prediction guides

Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.
Mackeh R, El Bsat Y, Elmi A, Bibawi H, Karim MY, Hassan A, Lo B
J Clin Immunol 2024 Apr 8;44(4):96. doi: 10.1007/s10875-024-01688-8. PMID: 38587703Free PMC Article
IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion.
Kaiser FMP, Janowska I, Menafra R, de Gier M, Korzhenevich J, Pico-Knijnenburg I, Khatri I, Schulz A, Kuijpers TW, Lankester AC, Konstantinidis L, Erlacher M, Kloet S, van Schouwenburg PA, Rizzi M, van der Burg M
Blood 2023 Sep 28;142(13):1113-1130. doi: 10.1182/blood.2023019721. PMID: 37369082Free PMC Article

Supplemental Content

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    Clinical resources

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    • ClinVar
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    • PMC Articles
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