Immunodeficiency: Or something else? Differential Diagnosis

Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).

  • Alcohol embryopathy
  • Trisomy 21 (Down syndrome) – special genomic mutation in humans in which the entire 21st chromosome or parts of it are present in triplicate (trisomy). In addition to physical characteristics considered typical for this syndrome, the cognitive abilities of the affected person are usually impaired; furthermore, there is an increased risk of leukemia.

Blood, blood-forming organs – immune system (D50-D90).

Congenital immunodeficiencies

  • Defects of the B-cell series such as.
    • Dysimmunoglobulinemias
    • Congenital sex-linked agammaglobulinemia.
    • Selective IgA deficiency
    • Transitory hypogammaglobulinemia in infants/toddlers.
  • Defects of the T-cell series such as.
    • Chronic mucocutaneous candidiasis (fungal disease).
    • Di-George syndrome – congenital deletion on the q11 region of chromosome 22, sporadic occurrence; recurrent (recurring) infections, tetanic convulsions, congenital heart defects or malformations of blood vessels.
    • Nezelof syndrome – autosomal recessive inheritance; general susceptibility to infections.
  • Combined T- and B-cell defects such as agammaglobulinemia (Swiss type).
    • Episodic lymphopenia with lymphocytotoxin.
    • Immune deficiency with dysproportionate dwarfism.
    • Louis Bar syndrome (synonyms: (Ataxia teleangiectatica (Ataxia teleangiectasia); Boder-Sedgwick syndrome) – autosomal recessive inheritance; first symptoms around the second to third year of life; cerebellar ataxia (gait and stance unsteadiness) with cerebellar atrophy (loss of substance); Teleangiectasia (dilatation of small arteries) mainly on the face and conjunctiva of the eye; T-cell defect and associated decreased immunocompetence; hypersalivation (synonyms: Sialorrhea, sialorrhea or ptyalism; increased salivation) and hypogonadism (hypofunction of the gonads).
    • Reticular dysgenesis
    • Variable immunodeficiency diseases (unclassifiable).
    • Wiskott-Aldrich syndrome – X-linked recessive inherited disorder with insufficiency (weakness) of blood clotting and immune system; symptom triad: eczema (skin rash), thrombocytopenia (lack of platelets), and recurrent infections
  • Phagocytosis disorders – form of nonspecific defense against infection – such as.
    • Chedak-Higaski syndrome – autosomal recessive inheritance; characteristics include oculocutaneous albinism (decreased pigmentation), silvery blond hair, hepatosplenomegaly (liver and spleen enlargement), ganglionic hypertrophy, and recurrent purulent infections of the skin and respiratory tract
    • Job syndrome – autosomal dominant inheritance; characteristic are skin abscesses, recurrent infections in the face in the face, upper respiratory tract and pneumonia; already in childhood as well as infancy eczematoid dermatitis (inflammatory skin reaction).
    • Lazy Leucocyte Syndrome – unclear inheritance; recurrent infections.
    • Myeloperoxidase defect
    • Progressive septic granulomatosis
  • Complement defects – complement system = special immune defense system.
    • C1 – C9 defects

Basic diseases

  • Asplenia – absence of the spleen; congenital or acquired by splenectomy (removal of the spleen).
  • Leukemia (blood cancer)
  • Lymphoma – malignant neoplasms originating from the lymphatic system.
  • Sarcoidosis (synonyms: Boeck’s disease; Schaumann-Besnier disease) – systemic disease of connective tissue with granuloma formation.
  • Sickle cell anemia (med.: Drepanocytosis; also sickle cell anemia, sickle cell anemia) – genetic disease with autosomal recessive inheritance, which affects the erythrocytes (red blood cells); belongs to the group of hemoglobinopathies (disorders of hemoglobin; formation of an irregular hemoglobin, the so-called sickle cell hemoglobin, HbS).

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Diabetes mellitus (diabetes).
  • Malnutrition
  • Malnutrition

Infectious and parasitic diseases (A00-B99).

  • Infectious diseases of all kinds, especially infection with the
    • Human immunodeficiency virus (HIV).
    • Epstein-Barr virus (EBV)
    • Cytomegalovirus (CMV)
    • Measles

Mouth, esophagus (food pipe), stomach and intestines (K00-K67; K90-K93).

  • Protein loss syndromes (protein loss syndromes) such as.
    • Protein loss enteropathy
    • Intestinal – gastrointestinal tract-related – lymphagiectasia.

Musculoskeletal system and connective tissue (M00-M99).

  • Rheumatoid arthritis
  • Systemic lupus erythematosus – autoimmune disease with formation of autoantibodies mainly against antigens of the cell nuclei (so-called antinuclear antibodies = ANA), possibly also against blood cells and other body tissues.

Neoplasms – tumor diseases (C00-D48).

  • Tumor diseases of all kinds, especially of the lymphatic and hematopoietic systems.

Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99).

  • Nephrotic syndrome – collective term for symptoms occurring in various diseases of the glomerulus (renal corpuscles); symptoms include proteinuria (increased excretion of protein in the urine) with protein loss of more than 1 g/m²/body surface/d; hypoproteinemia, peripheral edema due to hypalbuminemia of < 2.5 g/dl in serum, hyperlipoproteinemia (dyslipidemia).
  • Protein loss syndromes (protein loss syndromes) such as.
    • Glomerulopathies – pathological changes affecting the renal corpuscles.
    • Tubulopathies – pathological changes affecting the renal tubules.

Injuries, poisonings and other consequences of external causes (S00-T98).

  • Burns

Medication

  • See “Causes” under medications

Environmental pollution – intoxications (poisoning).

  • Exposure to ionizing radiation
  • Noise
  • Radiation syndrome – complex of symptoms that may occur after therapy/exposure to ionizing radiation.