Hypogammaglobulinemia

Hypogammaglobulinemia
Classification and external resources
Specialty	hematology
ICD-10	D80.0-D80.1
ICD-9-CM	279.00
DiseasesDB	6426
MedlinePlus	001307
eMedicine	med/1120 ped/54
Patient UK	Hypogammaglobulinemia
MeSH	D000361

Hypogammaglobulinemia is a type of primary immune deficiency disease.^[1]

Hypogammaglobulinemia is a characteristic of common variable immunodeficiency.^[2]

Terminology

"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,^[3] but the distinction is not usually clinically relevant.

"Hypogammaglobulinemia" is distinguished from dysgammaglobulinemia, which is a reduction in some types of gamma globulins, but not others.^[4]

Types

Type	OMIM	Gene
AGM1	601495	IGHM
AGM2	613500	IGLL1
AGM3	613501	CD79A
AGM4	613502	BLNK
AGM5	613506	LRRC8A
AGM6	612692	CD79B

References

↑ "hypogammaglobulinemia" at Dorland's Medical Dictionary
↑ "common variable immunodeficiency" at Dorland's Medical Dictionary
↑ "agammaglobulinemia" at Dorland's Medical Dictionary
↑ "Dysgammaglobulinemia" at Dorland's Medical Dictionary

External links

"Hypogammaglobulinemia" at Dorland's Medical Dictionary

Rose, M. E.; Lang, D. M. (2006). "Evaluating and managing hypogammaglobulinemia". Cleveland Clinic journal of medicine 73 (2): 133–7, 140, 143–4. PMID 16478038.
Robert Y Li, et al.: "Hypogammaglobulinemia", Medscape. Accessed 2009-07-17.
Saul Greenberg: "Hypogammaglobulinemia ". Accessed 2009-07-17.

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

Primary

Antibody/humoral (B)

Hypogammaglobulinemia	X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy

Dysgammaglobulinemia	IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome (1 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

Acquired

AIDS

Leukopenia:
Lymphocytopenia

Idiopathic CD4+ lymphocytopenia

Complement deficiency

Disorders of globin and globulin proteins

Globin	Hemoglobinopathy Thalassemia alpha beta delta Sickle-cell disease trait HPFH

Globulin	IGHM: AGM1 IGLL1: AGM2

Serpin	Serpinopathy: Alpha 1-antitrypsin deficiency Antithrombin III deficiency Hereditary angioedema FENIB

See also globular proteins globins antibodies serpins

Cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty) FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus 1) PTGER2 (Aspirin-induced asthma)

Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)

Class C	CASR (Familial hypocalciuric hypercalcemia)

Class F	FZD4 (Familial exudative vitreoretinopathy 1)

Enzyme-linked receptor
(including
growth factor)

RTK	ROR2 (Robinow syndrome) FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis) KIT (KIT Piebaldism, Gastrointestinal stromal tumor)

STPK	AMHR2 (Persistent Müllerian duct syndrome II) TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia) TGFBR1/TGFBR2 (Loeys–Dietz syndrome)

GC	GUCY2D (Leber's congenital amaurosis 1)

JAK-STAT

MPL (Congenital amegakaryocytic thrombocytopenia)

TNF receptor

TNFRSF1A (TNF receptor associated periodic syndrome)
TNFRSF13B (Selective immunoglobulin A deficiency 2)
TNFRSF5 (Hyper-IgM syndrome type 3)
TNFRSF13C (CVID4)
TNFRSF13B (CVID2)
TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)

Lipid receptor

LRP: LRP2 (Donnai–Barrow syndrome)
LRP4 (Cenani–Lenz syndactylism)
LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)

LDLR (LDLR Familial hypercholesterolemia)

Other/ungrouped

Immunoglobulin superfamily: AGM3, 6

EDAR (EDAR hypohidrotic ectodermal dysplasia)

See also: cell surface receptors

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