Increased IgM and decreased IgG, IgA, and IgE is characteristic of hyper-IgM syndrome, which causes severe pyogenic infections in the first months of life.
Hyper-IgM syndrome is an immunodeficiency characterized by B and T cell dysfunction. It is most commonly caused by defective CD40L on helper T cells which prevents class switching. It often presents with severe pyogenic infections and recurrent sinopulmonary infections early in life. It should be noted though that this is a non-specific finding that is associated with numerous other causes such as viral infection. Immunoglobulin levels reveal increased IgM and decreased IgG, IgA, and IgE. The treatment is administration of IVIG.
Abolhassani et al. describe the morbidity and mortality of a cohort of patients (n=33) with hyper-IgM syndrome. The patients' mean age at the onset of symptoms was 1.8 ± 0.2 years; they were diagnosed with a mean delay of 4.4 ± 3.3 years and followed for a mean time of 5.7 ± 4.8 years. The most prominent clinical features observed were multi-organ infections, affecting mostly the respiratory system, followed by lymphoproliferative and autoimmune disorders.
Al-Saud et al. describe the clinical, immunological, and molecular characteristics of hyper-IgM syndrome in a cohort of 11 patients. They describe that all 11 patients had recurrent chest infections at presentation. Pneumocystis jiroveci pneumonia was confirmed in three patients. Five patients had sclerosing cholangitis, and five patients had cryptosporidium isolated from their stool. Six patients had nasal and sinus infections, and two of these patients had destructive nasal fungal infections. Eight patients had neutropenia. All of the patients had low IgG and normal or high IgM levels
Answer 1: Increased: IgE, and Decreased: IgG, IgM is not observed in hyper-IgM syndrome syndrome and is not characteristic of a specific immunodeficiency.
Answer 2: Decreased: IgE, IgM, IgA, IgG is characteristic of X-linked (Bruton's) agammaglobulinemia.
Answer 3: Increased: IgE, IgA, and decreased IgM is characteristic of Wiskott-Aldrich syndrome.
Answer 4: Increased IgE is characteristic of hyper-IgE syndrome in which Th1 cells fail to produce interferon-gamma.
Abolhassani H, Akbari F, Mirminachi B, Bazregari S, Hedayat E, Rezaei N, Aghamohammadi A. Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis. Iran J Immunol. 2014 Jun;11(2):123-33. doi: IJIv11i2A7. PubMed PMID: .
PMID:24975969 (Link to Abstract)
Al-Saud BK, Al-Sum Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Arnaout R, Alsmadi O, Borrero E, Abu-Staiteh A, Rawas F, Al-Mousa H, Hawwari A. Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol. 2013 Nov;33(8):1325-35. Review. PubMed PMID: .
PMID:24122029 (Link to Abstract)