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Properdin Deficiency Information

Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor, is deficient.[1] Affected individuals are susceptible to fulminant meningococcal disease.

References

  1. ^ van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM (July 2000). "Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies". Eur. J. Hum. Genet. 8 (7): 513–8. doi:10.1038/sj.ejhg.5200496. PMID 10909851.
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· · Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
Primary
Antibody/humoral (B)
Hypogammaglobulinemia X-linked agammaglobulinemia · Transient hypogammaglobulinemia of infancy
Dysgammaglobulinemia IgA deficiency · IgG deficiency · IgM deficiency · Hyper IgM syndrome (2, 3, 4, 5) · Wiskott-Aldrich syndrome · Hyper-IgE syndrome
Other Common variable immunodeficiency · ICF syndrome
Cell-mediated (T) thymic hypoplasia: hypoparathyroid (Di George's syndrome) · euparathyroid (Nezelof syndrome, Ataxia telangiectasia) peripheral: Purine nucleoside phosphorylase deficiency · Hyper IgM syndrome (1)
Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency · Omenn syndrome · ZAP70 deficiency · Bare lymphocyte syndrome
Acquired AIDS
Leukopenia: Lymphocytopenia Idiopathic CD4+ lymphocytopenia
Complement deficiency C1-inhibitor (Angioedema/Hereditary angioedema) · Complement 2 deficiency/Complement 4 deficiency · MBL deficiency · Properdin deficiency · Complement 3 deficiency · Terminal complement pathway deficiency · Paroxysmal nocturnal hemoglobinuria · Complement receptor deficiency

: LMC

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, drug(/)
· · Sex linkage: X-linked disorders
X-linked recessive
Immune Chronic granulomatous disease (CYBB) · Wiskott-Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency
Hematologic Haemophilia A · Haemophilia B · X-linked sideroblastic anemia
Endocrine Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita
Metabolic

amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome

dyslipidemia: Adrenoleukodystrophy

carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb

lipid storage disorder: Fabry's disease

mucopolysaccharidosis: Hunter syndrome

purine-pyrimidine metabolism: Lesch-Nyhan syndrome

mineral: Menkes disease/Occipital horn syndrome
Nervous system

X-Linked mental retardation: Coffin-Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia

other: Charcot-Marie-Tooth disease (CMTX2-3) · Pelizaeus-Merzbacher disease · SMAX2
Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·

X-linked ichthyosis · X-linked endothelial corneal dystrophy
Neuromuscular Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi-Hünermann syndrome · Emery-Dreifuss muscular dystrophy 1
Urologic Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus
Bone/tooth AMELX Amelogenesis imperfecta
No primary system Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson-Golabi-Behmel syndrome · Mohr-Tranebjaerg syndrome · Nasodigitoacoustic syndrome
X-linked dominant
X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan-Fryns syndrome · Orofaciodigital syndrome 1

Categories: Immunodeficiency | Rare diseases

 

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