Details of Disease

General Information of Disease (ID: DISXMS80)

• Disease Name: Agammaglobulinemia
• Synonyms: Gammaglobulin Deficiency; antibody Deficiency; Immunoglobulin Deficiency; hypogammaglobulinemia; agammaglobulinemia; IGHM; mu heavy chain deficiency
• Definition: A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
• Disease Hierarchy:
  DISV2QZL: B cell deficiency
  DISXMS80: Agammaglobulinemia
• Disease Identifiers:
  MONDO ID: MONDO_0015977
  MESH ID: D000361
  UMLS CUI: C0001768
  MedGen ID: 168
  HPO ID: HP:0004432
  Orphanet ID: 183669
  SNOMED CT ID: 119249001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD19	TTW640A	moderate	Biomarker	[1]
BTK	TTGM6VW	Strong	Genetic Variation	[2]
CD79B	TTBN5I7	Strong	Biomarker	[3]
TCF3	TTULOD8	Strong	Biomarker	[4]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A7	DTDQSAM	Moderate	Autosomal recessive	[5]
SLC39A7	DTDQSAM	Strong	Biomarker	[6]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRWD1	OTOSRVDC	Limited	Autosomal dominant	[5]
POU2AF1	OTOO6WHL	Limited	Autosomal recessive	[5]
SLC39A7	OTYMA1VB	Moderate	Autosomal recessive	[5]
BLNK	OTSSPF6F	Strong	Biomarker	[7]
CD79A	OTOJC8DV	Strong	Genetic Variation	[8]
IGLL1	OTRTNVOG	Strong	Biomarker	[9]
PIK3R1	OT5BZ1J9	Strong	Biomarker	[10]
POLR3E	OT69PWBM	Strong	Biomarker	[11]
TCN2	OT41D0L3	Strong	Biomarker	[12]

References

• [1] Subcutaneous immunoglobulin replacement following CD19-specific chimeric antigen receptor T-cell therapy for B-cell acute lymphoblastic leukemia in pediatric patients.Pediatr Blood Cancer. 2020 Mar;67(3):e28092. doi: 10.1002/pbc.28092. Epub 2019 Dec 2.
• [2] Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies.Scand J Immunol. 2020 Jan;91(1):e12811. doi: 10.1111/sji.12811. Epub 2019 Oct 30.
• [3] Autosomal recessive agammaglobulinemia: the third case of Ig deficiency due to a novel non-sense mutation.J Clin Immunol. 2014 May;34(4):425-7. doi: 10.1007/s10875-014-0033-4. Epub 2014 Apr 11.
• [4] Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.Clin Transl Immunology. 2017 Oct 20;6(10):e159. doi: 10.1038/cti.2017.41. eCollection 2017 Oct.
• [5] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [6] An essential role for the Zn(2+) transporter ZIP7 in B cell development.Nat Immunol. 2019 Mar;20(3):350-361. doi: 10.1038/s41590-018-0295-8. Epub 2019 Feb 4.
• [7] Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.J Clin Immunol. 2015 May;35(4):356-60. doi: 10.1007/s10875-015-0164-2. Epub 2015 Apr 17.
• [8] IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation.J Clin Immunol. 2018 Feb;38(2):185-192. doi: 10.1007/s10875-017-0474-7. Epub 2018 Jan 15.
• [9] Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.Ann Allergy Asthma Immunol. 2016 Oct;117(4):439-441. doi: 10.1016/j.anai.2016.07.038. Epub 2016 Aug 27.
• [10] Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8.
• [11] Induction of human immunoglobulin synthesis and secretion in somatic cell hybrids of mouse myeloma and human B lymphocytes from patients with agammaglobulinemia.J Exp Med. 1978 Oct 1;148(4):974-86. doi: 10.1084/jem.148.4.974.
• [12] Human uncoupling protein 2 and 3 genes are associated with obesity in Japanese.Endocrine. 2008 Aug-Dec;34(1-3):87-95. doi: 10.1007/s12020-008-9111-9. Epub 2008 Oct 28.