Continued...

Signs and Symptoms:

Phagocytic disorders: Aphthous ulcers of the mucus membranes, severe gingivitis, periodontal disease, life threatening pyogenic infections and Gram negative and Fungal infections.

Complement defects : C1q, r, s, C2, C4 (autoimmune disease e.g. SLE), C3b (pyogenic infections), C5-C8 (recurrent Neisserial infections)

B-cell defects : Onset of infection is after transplacentally acquired maternal IgG decreases i.e. after 6 months of age. Recurrent Respiratory Tract (Sino-Pulmonary) infections in 85%, persistent infectious diarrhea (giardia), meningitis, arthritis, pyoderma, perianal abscesses and Sepsis occur. Later, autoimmune signs and non-malignant lymphoid hyperplasia or malignant tumors, especially lymphorecticular complications are seen.

T-cell defects : Onset of symptoms is in the first few months of life with Chronic diarrhea (cryptosporidium, Giardia, Rota virus) and chronic lung disease (viruses, P.carinii), persistent cough, FTT persistent thrush, and extensive monilial diaper rash. These infants are at risk for graft-versus -host disease (GVHD) from transplacental acquisition of maternal T-cells, as evidenced in 40% of Severe Combined ID (SCID) babies because of failure to recognize and reject foreign maternal T-lymphocytes, leading to skin signs (commonly) and hepatic disease in 40%. Later, autoimmune signs (not in SCID) and malignancies may occur.

History and physical examination:

Clues in IDs:

• Weight loss or failure to gain weight: T-cell defects
• Short stature: LAD type II, Cartilage-hair hypoplasia, Shwachman Diamond syndrome.
• Lymphoid tissue: Lymph Nodes, Tonsils and Adenoids, and thymus on chest X-rays: Hypoplastic in T-cell, MHC Cl II, XLA.Hyperplastic in CVID, CGD, IL-2R alpha chain defect,Omenn syndrome.
• Hepatosplenomegaly: Omenn syndrome, CGD, Chediak Higashi
• Skin :
  

  • Seborrheic dermatitis -SCID
  • Eczema -WAS
  • Erythroderma-Omenn's syndrome
  • Extensive monilial diaper rash - SCID
  • Excessive bruising -WAS
  • Lack of pus - LAD
  • Pyoderma /abscesses -CGI, Hyper IgE syndrome
• Delayed separation of the umbilical cord: LAD
• Skeletal abnormalities: ADA-SCID, Cartilage- hair hypoplasia
• Neurological:Ataxia-Telangiectasia
• Neonatal seizures: Di George Syndrome
• Chronic pulmonary infections: MHC Cl I, B-cell defects
• Oculocutaneous albinism: Chediak- Higashi syndrome
  
  

Classification of the defense system :

• Phagocytic disorders: New Engl. J. Med 343(23): 1703.2000
• Complement defects: New Engl. J. Med 344(14): 1058,2001
• Lymphocyte defects: New Engl. J. Med 343(18): 1313,2000
  
  

Laboratory Tests prior to referral :

• CBC and Blood smear
• ESR
• Immunoglobins (IgG, IgM, IgA)
  
  

Caution :

• Do not immunize with live viral vaccines
• Irradiate blood and blood products prior to transfusion of blood or its components.
  
  

Last created on 08-08-2002
Last updated on 01-07-2006