Agammaglobulinemia, autosomal recessive

Disease ID:1250
Name:Agammaglobulinemia, autosomal recessive
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
agammaglobulinemia 7 | agammaglobulinemia, non-Bruton type | AGM7
Description
A rare form of agammaglobulinemia associated with primary immunodeficiency. Caused by homozygous mutation in the PIK3R1 gene.
Database Links
OMIM: 615214
Orphanet: ORPHA33110

Targets

phosphoinositide-3-kinase regulatory subunit 1
References:  1-2
Mutations:  phosphoinositide-3-kinase regulatory subunit 1 is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Agammaglobulinemia, autosomal recessive

References

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1. de la Morena M, Haire RN, Ohta Y, Nelson RP, Litman RT, Day NK, Good RA, Litman GW. (1995) Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. Eur. J. Immunol., 25 (3): 809-15. [PMID:7705412]

2. Tang P, Upton JEM, Barton-Forbes MA, Salvadori MI, Clynick MP, Price AK, Goobie SL. (2018) Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1. J. Clin. Immunol., 38 (1): 88-95. [PMID:29178053]