Primary immunodeficiency and rheumatic disease 4.33/5 (3)

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Primary immunodeficiency: Kesselboom R, Eur J Pediatr, 2011. Open


A group of diseases caused by various gene defects with symptoms that usually occur in childhood.

  • Increased autoimmunity may cause that your own immune system weakened or put out of play and a combination with autoimmune disease occurs


Frequent infections (pneumonia, bronchitis, sinusitis, ear infections, meningitis, skin infections, fever without infection, allergy-like symptoms, reduced hormone / gland function and growth disorders).


One estimates roughly 400 serious cases in Norway


Blood tests with cell counts, measurement of immunoglobulins apply to all conditions. Detailed description of the individual T - and B -lymphocytes, immunoglobulin- subclasses are made depending on which specific conditions are suspected.


Immunoglobulins can be adminstered as injctions or infusions. Preventative treatment with antibiotics may be necessary. Some cases are offered hematologically stem cell therapy.

Some diagnostic groups

Antibody (immunoglobulin) failure

T cell and combined B and T cell failure

  • Serious combined immunodeficiency (SCID), Omenn syndrome, RAG 1 / RAG 2 defect, Reticular dysgenia X-bound SCID, IL2RG Jak 3 deficiency, ZAP70 deficiency, Wiscott Aldrich syndrome, X-linked thrombocytopenia, Di George anomaly (velofacial Syndrome or CATCH 22), Ataxia telangiectasia

Phagocyte defects

  • Defects in the function of phagocytes: chronic granulomatous disease, (CGD), Glucose-6-Phosphate dehydrogenase deficiency, Myeloperoxidase deficiency, Interferon gamma receptor defect, Leukocyte adhesion defect (LAD). Congenital neutropenia, Severe congenital neutropenia, (SCN), Cyclic neutropenia (Kostmann syndrome), Idiopathic neutropenia, Schwachman-Diamond syndrome

Complement defects

  • C1 inhibitor defective (Hereditary angioedema). C2, C4, C5, C6, C8 deficiency and other complement defects

Immune deficiency associated with other syndromes

  • Hyper IgE syndrome, Chronic mucocutaneous candidiasis including APECED / APC-1 / Whitaker syndrome, autoimmune polyendocrinopathy-candidiasis ectodermal dysplasia. Ivemark syndrome (heart failure, situs inversus, and spleen deficiency at birth), X-linked lymphoproliferative syndrome (Duncan syndrome)


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