Hyper-IgM syndrome type 3
| Hyper IgM syndrome type 3 | |
|---|---|
 | |
| Immunoglobulin M | |
| Specialty | Hematology  |
| Types | Hyper-IgM syndrome type 1,2,3,4 and 5[1][2][3][4][5] |
| Diagnostic method | MRI, Chest radiography and genetic testing[6] |
| Treatment | Allogeneic hematopoietic cell transplantation[7] |
Hyper-IgM syndrome type 3 is a form of
CD40 gene.[8]
In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
Hyper IgM syndromes
Hyper IgM syndromes is a group of
Immunoglobulin (Ig) class switch recombination deficiencies are characterized by elevated serum IgM levels and a considerable deficiency in Immunoglobulins G (IgG), A (IgA) and E (IgE). As a consequence, people with HIGM have an increased susceptibility to infections.[9][7][10]
Signs and symptoms
Hyper IgM syndrome can have the following syndromes:[6][11]
- Infection/Pneumocystis pneumonia (PCP), which is common in infants with hyper IgM syndrome, is a serious illness.[9] PCP is one of the most frequent and severe opportunistic infections in people with weakened immune systems.
- Hepatitis (Hepatitis C)
- Chronic diarrhea
- Hypothyroidism
- Neutropenia
- Arthritis
- Encephalopathy (degenerative)
Cause
Different genetic defects cause HIgM syndrome, the vast majority are inherited as an
IgM is the form of
Pathophysiology
CD40 is a
humoral immune response is affected. Patients are more susceptible to infection.[6]
Diagnosis
The diagnosis of hyper IgM syndrome can be done via the following methods and tests:[6]
- MRI
- Chest radiography
- Pulmonary function test
- Lymph node test
- Laboratory test (to measure CD40)
Treatment
In terms of treatment for hyper IgM syndrome, there is the use of
immunosuppressants, as well as other treatments, may be needed.[7]
References
- ^ a b "OMIM Entry – # 308230 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1". omim.org. Retrieved 16 November 2016.
- ^ a b "OMIM Entry – # 605258 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2". omim.org. Retrieved 16 November 2016.
- ^ a b "OMIM Entry – # 606843 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3". omim.org. Retrieved 16 November 2016.
- ^ a b "OMIM Entry – # 608106 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5". omim.org. Retrieved 16 November 2016.
- ^ "OMIM Entry – 608184 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". omim.org. Retrieved 2 January 2018.
- ^ a b c d "X-linked Immunodeficiency With Hyper IgM Clinical Presentation: History, Physical, Causes". emedicine.medscape.com. Retrieved 27 November 2016.
- ^ PMID 20301576. Retrieved 12 November 2016.update 2013
- ^ "OMIM Entry- # 606843 – IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3". omim.org. Retrieved 23 February 2018.
- ^ PMID 15319456.
- ^ "Hyper-Immunoglobulin M (Hyper-IgM) Syndromes | NIH: National Institute of Allergy and Infectious Diseases". niaid.nih.gov. Retrieved 27 November 2016.
- PMID 20180797.
- S2CID 6678540.subscription needed
- ^ Reference, Genetics Home. "X-linked hyper IgM syndrome". Genetics Home Reference. Retrieved 27 November 2016.
- ^ Reference, Genetics Home. "CD40 gene". Genetics Home Reference. Retrieved 27 November 2016.