Hyper-IgM syndrome type 4

Hyper-IgM syndrome type 4
Classification and external resources
Immunoglobulin M
ICD-10	D 80.5
ICD-9	279.05
OMIM	608184
eMedicine	ped/2457
MeSH	D053306

Hyper-IgM syndrome type 4 is a form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.^[1]

References

^ Lougaris V, Badolato R, Ferrari S, Plebani A (2005). "Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features". Immunol. Rev. 203: 48–66. doi:10.1111/j.0105-2896.2005.00229.x. PMID 15661021. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0105-2896&date=2005&volume=203&spage=48.

Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)

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

T cell deficiency (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

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

M: LMC

cell/phys/auag/auab/comp, igrc

imdf/ipig/hyps/tumr

proc, drug(L3/4)