ZAP70 deficiency

ZAP70 deficiency
Classification and external resources
OMIM	176947
DiseasesDB	34801

ZAP70 deficiency, or zeta-chain-associated protein 70 kD deficiency,^[1] is a rare autosomal recessive form of severe combined immunodeficiency (SCID).^[2]

It is associated with ZAP70.

Presentation

It is characterized by a lack of CD8+ T cells and the presence of circulating CD4+ T cells which are unresponsive to T-cell receptor (TCR)-mediated stimuli.^[3]

Treatment

ZAP70 deficiency has an autosomal recessive pattern of inheritance.

No cure currently exists; however, gene therapy has been proposed.^[4]^[5]

References

↑ Online Mendelian Inheritance in Man (OMIM) 176947
↑ Otsu M, Steinberg M, Ferrand C, et al. (2002). "Reconstitution of lymphoid development and function in ZAP-70-deficient mice following gene transfer into bone marrow cells". Blood. 100 (4): 1248–56. PMID 12149205. doi:10.1182/blood-2002-01-0247.
↑ ZAP-70 Deficiency at Merck Manual of Diagnosis and Therapy Professional Edition
↑ Adjali O, Marodon G, Steinberg M, et al. (2005). "In vivo correction of ZAP-70 immunodeficiency by intrathymic gene transfer". J. Clin. Invest. 115 (8): 2287–95. PMC 1180533 . PMID 16075064. doi:10.1172/JCI23966.
↑ Irla M, Saade M, Kissenpfennig A, et al. (2008). Gold JA, ed. "ZAP-70 restoration in mice by in vivo thymic electroporation". PLoS ONE. 3 (4): e2059. PMC 2323614 . PMID 18446234. doi:10.1371/journal.pone.0002059.

External links

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

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis
Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2
Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency
Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2
Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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