Hyper-IgM syndrome type 3

Classification according to ICD-10
D80.5	Immunodeficiency with increased immunoglobulin M [IgM]
ICD-10 online (WHO version 2019)

The Hyper-IgM syndrome, type 3 ( HIGM3 , Hyper-IgM syndrome by CD40 deficiency is) a special form of rare hyper-IgM syndrome , a hereditary disease with increased immunoglobulin M and simultaneously reduced to the absence of immunoglobulin G and immunoglobulin A in the blood serum .

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease is based on mutations in the CD140 gene at locus 20q13.12.

Clinical manifestations

The disease belongs with the hyper-IgM syndrome type 1 to the forms with increased infections , an increased tendency to infection due to the immune deficiency . In contrast to isolated immunodeficiency diseases, infections with Pneumocystis carinii often occur in this syndrome .

treatment

Treatment consists of substitution therapy .

literature

A. Mishra, K. Italia, M. Gupta, M. Desai, M. Madkaikar: Hyperimmunoglobulin syndrome due to CD40 deficiency: possibly the first case from India. In: Journal of postgraduate medicine. Vol. 61, No. 1, 2015 Jan-Mar, pp. 46-48, doi: 10.4103 / 0022-3859.147053 , PMID 25511220 .

Individual evidence

↑ Hyper-IgM syndrome type 3. In: Orphanet (database for rare diseases).
↑ Immunodeficiency with hyper-IgM, type 3. In: Online Mendelian Inheritance in Man . (English)
↑ Hyper-IgM syndrome with opportunistic infections. In: Orphanet (Rare Disease Database).
↑ R. Heiming, T. Beuschausen, T. Liebner, J. Seidenberg, J. Roesler: Life-threatening Pneumocystis carinii pneumonia in a 4-month-old boy with Hyper IgM syndrome. In: Monthly Pediatric : Organ of the German Society for Pediatrics. Vol. 141, No. 11, November 1993, pp. 860-863, PMID 8283991 .
↑ T. Luthardt: Intravenous immunoglobulin substitution in the case of antibody deficiency syndrome. In: German Medical Weekly (1946). Vol. 105, No. 28, July 1980, pp. 993-997, doi: 10.1055 / s-2008-1070798 , PMID 7408694 .

[Orpha-1] Hyper-IgM syndrome type 3. In: Orphanet (database for rare diseases).

[2] Immunodeficiency with hyper-IgM, type 3. In: Online Mendelian Inheritance in Man . (English)

[3] Hyper-IgM syndrome with opportunistic infections. In: Orphanet (Rare Disease Database).

[4] R. Heiming, T. Beuschausen, T. Liebner, J. Seidenberg, J. Roesler: Life-threatening Pneumocystis carinii pneumonia in a 4-month-old boy with Hyper IgM syndrome. In: Monthly Pediatric : Organ of the German Society for Pediatrics. Vol. 141, No. 11, November 1993, pp. 860-863, PMID 8283991 .

[5] T. Luthardt: Intravenous immunoglobulin substitution in the case of antibody deficiency syndrome. In: German Medical Weekly (1946). Vol. 105, No. 28, July 1980, pp. 993-997, doi: 10.1055 / s-2008-1070798 , PMID 7408694 .