液性免疫不全

液性免疫不全
疾患	遺伝形式	異常がみられる主な遺伝子	臨床所見
分類不能型免疫不全症	多様	ARHGEF1，ATP6AP1，BAFFRCD19，CD27，CD81，CTLA4，CR2CXCR4，DCLRE1C，GATA2，ICOS，IKZF1，IL21，IL21R，IRF2BP2，JAK3，KDM6A，KMT2D，LRBA，MS4A1，NFKB1，NFKB2，NSMCE3，PIK3CD，PIK3R1，PLCG2，PRKCD，RAC2，RAG1，RAG2，SH3KBP1，STAT3，STXBP2，TACI，TNFRSF13B，TNFRSF13C，TNFSF12，VAV1	再発性副鼻腔肺感染症，自己免疫疾患（例，免疫性血小板減少症，自己免疫性溶血性貧血），吸収不良，ジアルジア症，肉芽腫性間質性肺疾患，消化管の結節性リンパ組織過形成，気管支拡張症，リンパ球性間質性肺炎，脾腫；10％で，胃癌およびリンパ腫通常，20～40歳の患者で診断される
AIDまたはUNG欠損を伴う高IgM症候群	常染色体潜性（劣性）	AID, UNG	X連鎖高IgM症候群に似るがリンパ組織過形成を伴う白血球減少症なし
CD40欠損を伴う高IgM症候群	常染色体潜性（劣性）	CD40	X連鎖高IgM症候群に似るリンパ組織形成不全，好中球減少症
CD40リガンド欠損を伴う高IgM症候群	X連鎖	CD40リガンド（CD40L）	X連鎖無ガンマグロブリン血症（例，反復性の化膿性細菌副鼻腔肺感染）に似るが，Pneumocystis jirovecii肺炎，クリプトスポリジウム症，重度の好中球減少症，およびリンパ組織形成不全がより高頻度
免疫グロブリンが正常な選択的抗体欠損症（Selective Antibody Deficiency With Normal Immunoglobulin）	不明	—	再発性の副鼻腔肺感染症ときにアトピーの症状（例，アトピー性皮膚炎，喘息，慢性鼻炎）軽症，中等症，重症，およびメモリーフェノタイプのいずれでもありうる
選択的IgA欠損症	不明	一部の症例ではTACI	無症状のことが最も多い再発性の副鼻腔肺感染症，下痢，アレルギー（血液製剤に対するアナフィラキシー反応［まれ］を含む），自己免疫疾患（例，セリアック病，炎症性腸疾患，SLE，慢性活動性肝炎）
乳児一過性低ガンマグロブリン血症	不明	—	通常は無症候性ときに再発性の副鼻腔肺感染症または消化管感染症，カンジダ症，髄膜炎
X連鎖無ガンマグロブリン血症	X連鎖	BTK	乳児期の反復性の副鼻腔肺感染症および皮膚感染症，一過性の好中球減少症，リンパ組織形成不全経口弱毒生ポリオワクチン，エコーウイルス，またはコクサッキーウイルスに起因する持続的な中枢神経系感染症感染性関節炎，気管支拡張症，および特定のがんのリスク増加
AID = activation-dependent (induced) cytidine deaminase；ARHGEF1= Rho guanine nucleotide exchange factor 1；ATP6AP1= ATPase H+ transporting accessory protein 1；BAFFR= B-cell activating factor receptor；BTK= B-cell activating factor receptor；C = 補体；CAML = calcium-modulator and cyclophilin ligand；CD = clusters of differentiation；CD19= CD19 molecule；CD27= CD27 molecule；CD81 = CD81 molecule；CR2= complement receptor 2；CTLA4 = cytotoxic T-lymphocyte-associated protein 4；CXCR4 = C-X-C motif chemokine receptor 4；DCLRE1C = DNA cross-link repair 1C；GATA2 = GATA binding protein 2；ICOS = inducible T-cell co-stimulator；IKZF1 = IKAROS family zinc finger 1；IL21 = interleukin 21；IL21R = interleukin 21 receptor；IRF2BP2 = interferon regulatory factor 2 binding protein 2；JAK3 = Janus kinase 3；KDM6A = lysine methyltransferase 2D；KMT2D = lysine demethylase 6A；LRBA = LPS responsive beige-like anchor protein；MS4A1 = membrane spanning 4-domains A1；NFKB1 = nuclear factor kappa B subunit 1；NKFKB2 = nuclear factor kappa B subunit 2；NSMCE3 = NSE3 homolog, SMC5-SMC6 complex component；PIK3CD = phosphatidyl 3-kinase catalytic subunit delta；PIK3R1 = phosphoinositide-3-kinase regulatory subunit 1；PLCG2 = phospholipase C gamma 2；PRKCD = protein kinase C delta；RAC2 = Rac family small GTPase 2；RAG1 = recombination activating 1；RAG2 = recombination activating 2；SH3KBP1 = SH3 domain containing kinase binding protein 1；SLE = 全身性エリテマトーデス；STAT3 = signal transducer and activator of transcription 3；STXBP2 = syntaxin binding protein 2；TACI = transmembrane activator and CAML interactor；TNFRSF13B = TNF receptor superfamily member 13B；TNFRSF13C = TNF receptor superfamily member 13C；TNFSF12 = TNF superfamily member 12；UNG = uracil DNA glycosylase；VAV1 = vav guanine nucleotide exchange factor 1

AID = activation-dependent (induced) cytidine deaminase；ARHGEF1= Rho guanine nucleotide exchange factor 1；ATP6AP1= ATPase H+ transporting accessory protein 1；BAFFR= B-cell activating factor receptor；BTK= B-cell activating factor receptor；C = 補体；CAML = calcium-modulator and cyclophilin ligand；CD = clusters of differentiation；CD19= CD19 molecule；CD27= CD27 molecule；CD81 = CD81 molecule；CR2= complement receptor 2；CTLA4 = cytotoxic T-lymphocyte-associated protein 4；CXCR4 = C-X-C motif chemokine receptor 4；DCLRE1C = DNA cross-link repair 1C；GATA2 = GATA binding protein 2；ICOS = inducible T-cell co-stimulator；IKZF1 = IKAROS family zinc finger 1；IL21 = interleukin 21；IL21R = interleukin 21 receptor；IRF2BP2 = interferon regulatory factor 2 binding protein 2；JAK3 = Janus kinase 3；KDM6A = lysine methyltransferase 2D；KMT2D = lysine demethylase 6A；LRBA = LPS responsive beige-like anchor protein；MS4A1 = membrane spanning 4-domains A1；NFKB1 = nuclear factor kappa B subunit 1；NKFKB2 = nuclear factor kappa B subunit 2；NSMCE3 = NSE3 homolog, SMC5-SMC6 complex component；PIK3CD = phosphatidyl 3-kinase catalytic subunit delta；PIK3R1 = phosphoinositide-3-kinase regulatory subunit 1；PLCG2 = phospholipase C gamma 2；PRKCD = protein kinase C delta；RAC2 = Rac family small GTPase 2；RAG1 = recombination activating 1；RAG2 = recombination activating 2；SH3KBP1 = SH3 domain containing kinase binding protein 1；SLE = 全身性エリテマトーデス；STAT3 = signal transducer and activator of transcription 3；STXBP2 = syntaxin binding protein 2；TACI = transmembrane activator and CAML interactor；TNFRSF13B = TNF receptor superfamily member 13B；TNFRSF13C = TNF receptor superfamily member 13C；TNFSF12 = TNF superfamily member 12；UNG = uracil DNA glycosylase；VAV1 = vav guanine nucleotide exchange factor 1