Hypogammaglobulinaemia

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Classification according to ICD-10
D80.0 Hereditary hypogammaglobulinaemia
D80.1 Nonfamily hypogammaglobulinaemia
D80.7 Transient hypogammaglobulinaemia in childhood
ICD-10 online (WHO version 2019)

The term hypogammaglobulinemia describes a clinical picture within the group of primary immunodeficiencies with a predominant antibody deficiency .

Terminology

“Hypogammaglobulinemia” is mostly used synonymously for the term agammaglobulinemia, despite the difference that in the former case the gamma fraction is only reduced, in the latter case it is no longer present. Modern assays have made it possible to identify most agammaglobulinaemias as actual hypoglobulinaemias, but this is usually of little clinical relevance.

Hypogammaglobulinaemia is considered separately from the more common dysgammaglobulinaemia , which is a decrease in individual subtypes of gamma globulins , but not all. The latter takes up the majority of the other ICD-10 diagnoses under the heading D80.

Unfortunately, the literature search is therefore limited due to conceptual ambiguities and multiple assignments. Due to their general significance, hypogammaglobulinaemia and dysgammaglobulinaemia occur as accompanying symptoms in a large number of immune defects such as CVID , ICOS deficiency, hyper-IgM syndrome or WHIM syndrome , see literature.

classification

A distinction can be made between:

  • congenital "primary" hypogammaglobulinaemia
  • acquired "secondary" hypogammaglobulinaemia, e.g. B. malignant diseases, especially of the blood-forming system.
  • “Physiological” hypogammaglobulinaemia in infants between two and six months of age. The transient hypogammaglobulinemia in newborns with serum - IgG -Spiegeln below 3-4 g / l is caused by decreasing nest protection and in less than 1: 1000 not sufficiently overlapping onset cases own production of antibodies . The risk of severe bacterial infections is increased in the time interval from 2 to 6 months of age. The disease has an excellent prognosis and is characterized by spontaneous normalization and slightly reduced vaccination success rates.

Complications

In the context of syndromes

In some syndromes, hypogammaglobulinaemia is a key feature:

  • Mental retardation, X-linked - hypogammaglobulinaemia - progressive neurological deficits , X-linked - recessive , mutations at gene location Xq21.33q23
  • IGHD3 (short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia), X-linked recessive, mutations in the BTK gene at Xq22.1
  • Osteopetrosis - hypogammaglobulinaemia syndrome (osteopetrosis with osteoclast deficiency and hypogammaglobulinaemia, autosomal recessive form), autosomal recessive, mutations in the TNFRSF11A gene at 18q21.33
  • WHIM syndrome (warts - hypogammaglobulinaemia - infections - myelocathexis), partly autosomal dominant , mutations in the CXCR4 gene at 2q22.1

literature

Web links

Individual evidence

  1. ↑ 3469 Immunodeficiency Syndrome, variable. In: Orphanet (Rare Disease Database).
  2. ↑ ICD code D80 . icd-code.de. November 8, 2015. Accessed November 8, 2015.
  3. ^ Entry on hypogammaglobulinemia in the Flexikon , a Wiki of the DocCheck company
  4. ↑ Transient childhood hypogammaglobulinaemia. In: Orphanet (Rare Disease Database).
  5. ↑ Mental retardation, X-linked - hypogammaglobulinaemia - progressive neurological deficits. In: Orphanet (Rare Disease Database).
  6. ↑ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia. In: Orphanet (Rare Disease Database).
  7. ^ Agammaglobulinemia and isolated hormone deficiency.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Osteopetrosis - hypogammaglobulinaemia. In: Orphanet (Rare Disease Database).
  9. ^ Osteopetrosis, autosomal recessive 7th  In: Online Mendelian Inheritance in Man . (English)
  10. ^ WHIM syndrome. In: Orphanet (Rare Disease Database).
  11. ^ WHIM syndrome.  In: Online Mendelian Inheritance in Man . (English)