Page 1239 - Williams Hematology ( PDFDrive )

1214 Part IX: Lymphocytes and Plasma Cells Chapter 80: Immunodeficiency Diseases 1215

TABLE 80–2. Common Adaptive Immunodeficiencies: Laboratory and Clinical Features* (Continued)
Humoral Immunity
Lymphocytes* Serum Immunoglobulins (Ig)
Cellular Antibody
B T NK Immunity M G A E Responses Common Infections
Predominantly antibody deficiencies
X-linked − + + + ↓ ↓ ↓ ↓ − Bacteria, Giardia lamblia
agammaglobulinemia
BTK deficiency
Autosomal recessive agammaglobulinemia
λ5, Igα, Igβ, BLNK, p85α, − + + + ↓ ↓ ↓ ↓ − Bacteria
E47 deficiency
Transient hypogamma- + + + + N/↓ N/↓ N/↓ N/↓ +/− Bacteria
globulinemia of infancy
Selective IgA deficiency + + + + N N ↓ N +/− Bacteria, G. lamblia
Common variable + + + + N/↓ ↓ ↓ ↓ − Bacteria, G. lamblia
immune deficiency (CVID)
Hyper-IgM syndromes
CD40 ligand deficiency + + + +/− N/↑ ↓ ↓ ↓ +/− Bacteria, viruses, fungi
(X-linked)
CD40 deficiency + + + + N/↑ ↓ ↓ ↓ +/− Bacteria, viruses, fungi
Activation-induced + + + + N/↑ ↓ ↓ ↓ +/− Bacteria
cytidine deaminase
deficiency (AID)
Uracil-DNA glycosylase + + + + N/↑ ↓ ↓ ↓ +/− Bacteria
deficiency (UNG)
X-linked NF-κB Essen- + + + + N/↑ ↓ ↓ ↓ +/− Bacteria, viruses, fungi
tial Modulator (NEMO)
deficiency, due to muta-
tions in IKBKG
Severe combined immunodeficiencies (SCID)
Interleukin receptor + − − − N ↓ ↓ ↓ − Bacteria, viruses, fungi
γ-chain deficiency
(X-linked SCID)
Janus-associated kinase + − − − N ↓ ↓ ↓ − Bacteria, viruses, fungi
3 (JAK3) deficiency
Interleukin-7 receptor + − + − N ↓ ↓ ↓ − Bacteria, viruses, fungi
α-chain deficiency
ZAP-70 tyrosine kinase + +/− + − N N/↓ N/↓ N/↓ +/− Bacteria, viruses, fungi
deficiency
Adenosine deaminase − − − − ↓ ↓ ↓ ↓ − Bacteria, viruses, fungi
(ADA) deficiency
Purine nucleotide + − + − N ↓ ↓ ↓ +/− Bacteria, viruses, fungi
phosphorylase (PNP)
deficiency
Recombinase activat- − − + − ↓ ↓ ↓ ↓ − Bacteria, viruses, fungi
ing genes (RAG 1/2)
deficiency
Artemis deficiency − − + − ↓ ↓ ↓ ↓ − Bacteria, viruses, fungi
Reticular dysgenesis − − − − ↓ ↓ ↓ ↓ − Bacteria, viruses, fungi
(AK2 deficiency)
Primary T-cell deficiencies
Congenital thymic + − + +/− N N N N +/− Bacteria, viruses, fungi
aplasia (DiGeorge
syndrome)

(Continued )

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