Primary immunodeficiency and rheumatic disease 4.33/5 (3)

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


Primary immunodeficiency is a group of diseases caused by various gene defects with symptoms that usually occur in childhood. More than 60% make their debut before the age of 5. About. 20% only make their debut in adulthood. Increased autoimmunity may cause that your own immune system weakened or put out of action. Some have a combination with autoimmune diseases. The condition is distinguished from secondary immunodeficiency seen with immunosuppressive drugs, diabetes, severe kidney disease, HIV, cancer and old age.


There are approximately 400 serious cases in Norway. Data from ESID register (European Society for Immune Deficiencies) is based on approx. 30.000 cases and approx. 500 states:

Primary immunodeficienciesShare
Antibody-related diseases50,4%
Combined immunodeficiencies10,3%
Phagocytosis defects8,2%
Immune dysregulation5,9%
Auto-inflammatory diseases3,0%
Unclassified immunodeficiencies1,4%
Bone marrow associated
Other defined primary immunodeficiencies15,1%


Frequent symptoms are infections such as pneumonia, bronchitis, sinus infections, ear infections, meningitis and skin infections. Other symptoms are feverish conditions without infection, allergy-like complaints, reduced hormone/gland function and growth disorders in children, intestinal complaints and nausea. Some show signs of autoimmune disease in the form of rashes and swollen lymph nodes.


Disease history Family/hereditary diseases, previous diseases, drugs, autoimmune phenomena, cancer, growth retardation, diarrhea are requested, but also signs of hemolytic anemia (frostbite, fever, falling hemoglobin).

Clinical examination assess skin (rash in the form of idiopathic thrombocytopenic purpura or (granulomatous) inflammation), joints (destructive infectious joint inflammation caused by otherwise rare bacteria such as uroplasma urolyticum and mycobacteria) and lymph nodes (swollen in granulomatous inflammation or reactive changes). During a general examination, signs of changes in the lungs, heart and other internal organs, as well as the nervous system, vision and hearing SLE (lupus), Rheumatoid Arthritis (Arthritis) og diabetes should be ruled out (somewhat increased incidence).

Laboratory tests. Indicative tests include cell counts with differential count, haptoglobin, liver, kidney and thyroid function tests, blood sugar, IgG, IgM, IgA, s-electrophoresis, albumin, viruses: HIV, hepatitis, CMV, EBV. anti-nuclear antibody (ANA) and anti-CCP considering at the same time systemic connective tissue disease or rheumatoid arthritis.

Imaging. CT thorax and abdomen.

Tissue sample (biopsy): Bone marrow with flow cytometry. If necessary: ​​tissue sample of lymph nodes, skin or mucous membranes.

Targeted investigation by agreement with an immunologist or haematologist: tests for T-cell failure, B-cell failure, phagocyte defects and complement defects. Genotyping. It will most often be a paediatrician, immunologist or hematologist who makes the diagnosis.

Certain diagnoses

Antibody (immunoglobulin) failure. Bruton's agammaglobulinemia, X-linked agammaglobulinemia, Hypogammaglobulinemia, Common Variable Immundeficiency Disease (CVID), IgG subclass defects (selective IgA deficiency, Hyper-IgM syndrome).

T cell and combined B and T cell failure. Severe combined immunodeficiency (SCID = severe combined immunodeficiency), Omenn syndrome, RAG 1/ RAG 2 defect, Reticular dysgenesis X-linked 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. Errors 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 defect (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 defect, situs inversus and missing spleen at birth), X-linked lymphoproliferative syndrome (Duncan syndrome)

MBL deficiency. MBL is an acute-phase protein. About 5% of the population has persistently low MBL values ​​in the blood, which increases the risk of more serious infections, especially meningococcal disease.


B-cell failure has an improved prognosis if it can be treated with intravenous or subcutaneous immunoglobulins. The treatment must be given regularly. Preventive treatment with antibiotics may be necessary. Some cases are offered hematologically stem cell therapy. T-cell deficiency, such as in DiGeorge syndrome, generally has a poor prognosis. However, thymus transplantation can improve the prognosis. In SCID, bone marrow transplantation can improve the otherwise poor prognosis. One hopes gene therapy will soon be available.


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