Immunodeficiency 23

OMIM:615816
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	PGM3
Reference transcript	NM_001199917.1
DNA Change	c.332T>C
A.A. Change	p.Leu111Ser
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-S�rqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, K�lsch U, Nadifi S, Nilsson M, Bejaoui M, Sch�ffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B.Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13.

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