Neutropenia is not a feature of
Correct Answer: Congenital asplenia
Description: Ans: c) Congenital asplenia1) X linked Immmunodeficiency with Hyper IgM syndrome* Defective isotype switching leads to increased Ig M and decreased Ig G and A* Due to abnormal CD- 40 ligand leading to defective B-T cell interactions: so T cell response is also abnormal (pneumocytosis, aspergillosis, CMV infections also)* Neutropenia is frequent in affected males (Harrison 17th edition)* Defective NFK^ essential modulator (NEMO) causes Hyper IgM with ectodermal dysplasia* Achranon induced cytidine deaminase (AID), URAGIDNA glycosylase (UNG). So Hyper IgM may be due to abnormal CD 40 C/ NEMO/AID/UNG.2) Wiskott Aldrich syndrome:* Eczema (increased IgE); thrombocytopenia (small and short lived) and infections (decreased IgM; T cell deficiency)* WASP gene mutation* IgM is low; IgG and A normal; IgE increased* Lymphoreticular malignancy* Failure to make Antibody to polysaccharide antigen (protein antigen also if advanced)* Neutropenia; defective chemotaxis of neutrophils also may be seen.3) Kostmann syndrome:Is a hereditary neutropenic syndrome due to mutation in anti-apoptosin gene HAX -1.Other Congenital Neutropenias:Mutation Neutrophil elastase: Severe chronic neutropeniaHereditary cyclic neutropeniaCartilage hair hypoplasia syndromeSchwachmann - Diamond syndromeWHIM syndrome;G-CSF receptor mutation associated with Wiskott Aldrich CD-40 L defect (Harrison 17th edition)Congenital asplenia: is a cause of NeutrophiliaJob's syndrome:Hyper IgE recurrent infection syndrome (eczema, skin abscess, Staphylococcus aureus pneumonia)
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