Combined immunodeficiency

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Immunodeficiency Main Page




Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[3]; Anum Gull M.B.B.S.[4]; Farman Khan, MD, MRCP [5]; Sadaf Sharfaei M.D.[6]


Please see Common variable immunodeficiency. There are a variety of syndromic conditions related to immunodeficiency. Some syndromic conditions are inherited.


Combined Immunodeficiency Diseases with associated or syndromic features
Congenital thromocytopenia
DNA Repair Defects
Immuno-osseous dysplasias
Thymic Defects with additional congenital anomalies
Hyper-IgE syndromes(HIES)
Dyskeratosis congenita (DKC)
Defects of Vitamin B12 and Folate metabolism
Anhidrotic Ectodermodysplasia with ID
Wiskott Aldrich Syndrome
Ataxia telangiectasia
Cartilage Hair Hypoplasia
DiDeorge Syndrome
Job Syndrome
Dyskeratosis congenita
Transcobalmin 2 deficiency
NEMO deficiency
Purine nucleoside phosphorylase deficiency
XL thrombocytopenia
Nijmegen breakage Syndrome
Schimke Syndrome
TBX1 deficiency
Comel Netherton Syndrome
COATS plus syndrome
Deficiency causing hereditary folate malabsorption
EDA-ID due to IKBA GOF mutation
ID with multiple intestinal atresias
WIP deficiency
Bloom syndrome
MYSM1 deficiency
Chromosome 10p13-p14 deletion Syndrome
PGM3 deficiency
Methylene-tetrahydrofolate-dehydrogenase 1 deficiency
Hepatic veno-occlusive disease with immunodeficiency
ARPC1B deficiency
PMS2 deficiency
MOPD1 deficiency
CHARGE Syndrome
Vici Syndrome
Immunodeficiency with centromeric instability and facial anomalies(ICF1, ICF2, ICF3, ICF4)
EXTL3 deficiency
HOIL1 deficiency, HOIP1 deficiency
MCM4 deficiency
Calcium Channel Defects(ORAI-1 deficiency, STIM1 deficiency)
RNF168 deficiency
Hennekam-lymphangiectasia-lymphedema syndrome
POLE1 deficiency
STAT5b deficiency
POLE2 deficiency
Kabuki Syndrome
NSMCE3 deficiency
ERCC6L2(Hebo deficiency)
Ligase 1 deficiency
GINS1 deficiency

Wiskott-Aldrich Syndrome

X-linked thrombocytopenia (XLT)

  • X-Liked thrombocytopenia is a less severe variant of wiskot aldrich syndrome.
  • X-Liked thrombocytopenia presents as a benign disease with good long-term survival compared with classic WAS.[5][6][7]
  • There is a relationship between XLT and WAS as both are caused by mutations of the same gene.[8]
  • WAS gene is mutated in X linked thrombocytopenia .[8]
  • X linked thrombocytopenia is inherited as a X- linked-recessive pattern.
  • X linked thrombocytopenia is characterized by:
    • Mild-to-moderate eczema
    • Mild infrequent infections
    • Small-sized platelets
  • Treatment for patients with XLT is still not determined.[5]

WIP Deficiency

  • WIPF1 gene which is located on chromosome 2q31.1
  • Mutation of WIPF1 gene leads to WIP deficiency.

ARPC1B Deficiency


Nijmegen breakage Syndrome

Bloom Syndrome

  • Bloom syndrome is also called as Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema.
  • Bloom syndrome is caused by the mutation in the BLM gene which is located on chromosome 15q26.
  • BLM gene encodes DNA helicase RecQ protein-like-3 (RECQL3).[28][29]
  • Bloom Syndrome is inherited as an autosomal recessive inherited disorder.
  • Most common manifestations of Bloom syndrome include followings:[30][28]
  • Bloom syndrome is diagnosed by detecting mutations in BLM gene.[31]
  • There is no specific treatment for bloom syndrome.

PMS2 Deficiency

  • PMS2 also known as Post-Meiotic Segregation 2.

Immunodeficiency with Centromeric instability and Facial anomalies(ICF1, ICF2, ICF3, ICF4)

  • ICF2 is caused by mutation in the ZBTB24 gene on chromosome 6q21.[35]
  • ICF3 is caused by mutation in the CDCA7 gene on chromosome 2q31.
  • ICF4 is caused by mutation in the HELLS gene on chromosome 10q23.

MCM4 Deficiency

RNF168 Deficiency

POLE1 deficiency

POLE2 deficiency

NSMCE3 Deficiency

ERCC6L2 (Hebo deficiency)

  • ERCC6L2 gene is located on chromosome 9q22.32.
  • ERCC6L2 gene belongs to a family of helicases.
  • ERCC6L2 gene is involved in chromatin unwinding, transcription regulation, DNA recombination, and repair.[56]
  • Mutation of ERCC6L2 gene leads to bone marrow failure syndrome 2 which is inherited as an autosomal recessive pattern.[56]
  • Bone marrow failure syndrome 2 is characterized by the followings:

Ligase 1 Deficiency

  • LIG1 gene is located on chromosome 19q13.33.
  • LIG1 gene encodes DNA ligase.
  • DNA ligase function at the replication fork is to join okazaki fragments during replication of lagging strand DNA.[57]
  • Mutation of LIIG1 gene leads to reclassified-variant of unknown significance formerly called as DNA ligase 1 deficiency.
  • Ligase 1 deficiency is characterized by:

GINS1 deficiency

Cartilage hair hypoplasia

  • Cartilage hair hypoplasia is also known as metaphyseal chondroplasia.
  • Cartilage hair hypoplasia is caused by mutation in the RMRP gene.
  • RMRP gene is located on chromosome 9p13.
  • RMRP gene encodes mitochondrial RNA-processing endoribonuclease which is involved in cleavage of RNA in mitochondrial DNA synthesis and nucleolar cleaving of pre-rRNA.[60][60]
  • Cartilage hair hypoplasia is inherited as an autosomal recessive pattern.
  • Cartilage hair hypoplasia is characterized by the followings:
  • Clinical diagnosis is made by observing fine and sometimes sparse hair in an individual with short stature and disproportionally short limbs.[62]
  • Suspected cases of skeletal dysplasia may be evaluated on radiography.
  • X-ray findings shows metaphyseal ends to be abnormal and appear as scalloped, irregular surfaces that may contain cystic areas.[63]
  • Definitive diagnosis is made by genetic analysis of the RMRP gene.

Schimke Immuno-osseous dysplasia (SIOD)

  • SMARCAL1 gene is located on chromosome 2q25.
  • SMARCAL1 gene encodes matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1.[64][65]
  • Homozygous or compound heterozygous mutation of SMARCAL1 gene causes Schimke immuno-osseous dysplasia (SIOD).
  • Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder.[64]
  • It is characterized by:
    • Short stature (often with prenatal growth deficiency)
    • Spondyloepiphyseal dysplasia
    • Defective cellular immunity
    • Progressive renal failure
  • The diagnosis should be considered in patients with short stature and immunodeficiency.
  • Renal function should be assessed if the diagnosis is suspected.
  • Radiographs for the characteristic bony anomalies should be performed.
  • Bone marrow transplantation markedly improved the marrow function.[66][66]

MYSM1 deficiency

  • MYSM1 gene is located on chromosome 1p32.1.
  • MYSM1 gene encodes a deubiquitinase which is involved in regulation of trancription and mediates histone deubiquitination.[67]
  • MYSM1 deficiency leads to bone marrow failure syndrome 4.
  • MYSM1 deficiency is inherited as an autosomal recessive pattern.[68][69]
  • MYSM1 deficiency is associated with:
    • Developmental aberrations
    • Progressive bone marrow failure with myelodysplastic features
    • Increased susceptibility to genotoxic stress
  • Hematopoietic stem cell transplant is a curative therapy.

MOPD1 deficiency

EXTL3 deficiency

Digeorge Syndrome

TBX1 deficiency

  • T-box transcription factor, TBX1 gene, also known as T-box protein 1 is located on chromosome 22q11.21.
  • Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development.
  • Mutations in the TBX1 gene leads to conotruncal anamoly face syndrome and velocardiofacial syndrome.

Chromosome 10p13-p14 deletion Syndrome

CHARGE Syndrome

Job Syndrome

Comel Netherton syndrome

PGM3 deficiency

Dyskeratosis congenita

COATS plus syndrome

SAMD9 Mutation

SAMD9L Mutation

Transcobalmin 2 deficiency

Hereditary Folate Malabsorption

MTHFD1 deficiency

NEMO deficiency

  • NEMO stands for NF-kappa-B essential modifier.
  • NEMO is encoded by a IKBKG gene on the X chromosome.
  • NEMO also known as IKBKG gene (inhibitor of kappa polypeptide gene enhancer kinase gamma).[94]
  • IKBKG belongs to a family of NEMO-like kinases that function in numerous cell signaling pathways.
  • NEMO-like kinases specifically phosphorylate serine or threonine residues that are followed by a proline residue.
  • Ectodermal dysplasia and immune deficiency-1 (EDAID1) is caused by mutation in the IKK-gamma gene (IKBKG or NEMO )on Xq28.
  • NEMO deficiency is inherited as an X-linked recessive disorder.
  • NEMO deficiency is characterized by ectodermal dysplasia with combined immunodeficiencies.[95]

EDA-ID due to IKBA GOF mutation

Purine nucleoside phosphorylase deficiency

  • Purine nucleoside phosphorylase deficiency is caused by mutation in the PNP gene.
  • Purine nucleoside phosphorylase is one of the enzymes of purine salvage pathway.
  • Defects in purine nucleoside phosphorylase enzyme lead to intracellular accumulation of metabolites that incldes deoxyguanosine triphosphate (dGTP).
  • Deoxyguanosine triphosphate is particularly toxic to T cells.[96]
  • Purine nucleoside phosphorylase deficiency is autosomal recessive disorder.
  • Purine nucleoside phosphorylase deficiency is characterized mainly by decreased T-cell function.
  • Patients typically present in infancy to early childhood with frequent bacterial, viral, and opportunistic infections.[97]
  • Purine nucleoside phosphorylase deficiency also presents with progressive neurologic symptoms which includes ataxia, developmental delay and spasticity
  • Low serum uric acid associated with T cell deficiency is highly suggestive of PNP deficiency.
  • Diagnosis of purine nucleoside phosphorylase deficiency is confirmed by measurement of PNP enzyme activity.
  • The only curative procedure for PNP deficiency is a hematopoietic stem cell transplantation.

ID with multiple intestinal atresias

  • Also known as familial intestinal polyaterisa syndrome.
  • Mutation in the TTC7A gene leads to gastrointestinal defects and immunodeficiency syndrome.
  • TTC7A gene is located on chromosome 2p21.
  • TT7CA stands for tetratricopeptide repeat domain 7A.
  • TTC7A protein involves in proper development andfunction of both thymic and GI epithelium.[98]
  • Gastrointestinal defects and immunodeficiency syndrome is inherited as an autosomal recessive inheritance.
  • Gastrointestinal defects and immunodeficiency syndrome is characterized by followings
    • Multiple intestinal atresia, in which atresia throughout intestines.[99]
    • Combined immunodeficiency
  • Surgical outcomes are poor, and the condition is usually fatal within the first month of life.

Hepatic veno-occlusive disease with immunodeficiency

  • Hepatic venoocclusive disease with immunodeficiency is caused by mutation in the SP110 gene.
  • SP110 gene is located on chromosome 2q37.
  • SP10 gene encodes a protein called SP110 nuclear body protein which is involved in immuni reguation.
  • Hepatic venoocclusive disease with immunodeficiency is an autosomal recessive disorder.
  • Hepatic venoocclusive disease is associated with hepatic vascular occlusion and fibrosis.
  • The immunodeficiency in hepatic venoocclusive disease is characterized by followings:[100]
    • Severe hypogammaglobulinemia
    • Combined T and B cell immunodeficiency
    • Absent lymph node germinal centers
    • Absent plasma cells
  • Hepatic veno-occlusive disease should be treat with intravenous immunoglobulin and pneumocystis jerovici prophylaxis.

Vici Syndrome

  • Vici syndrome is caused by mutation in the EPG5 gene.
  • EPG5 gene is located on chromosome 18q.
  • EPG5 encodes a gene called EPG5 which stands for ectopic P-granules autophagy protein 5.
  • Ectopic P-granules autophagy protein 5 a key regulator in autophagy and forms autolysosomesrome.[101]
  • Vici syndrome is inherited as an autosomal recessive pattern.[102]
  • Vici syndrome is characterized by followings:[103]
    • Agenesis of the corpus callosum
    • Cataracts
    • Pigmentary defects
    • Progressive cardiomyopathy
    • Variable immunodeficiency
    • Profound psychomotor retardation
    • Hypotonia due to a myopathy

HOIL1 deficiency

  • HOIL1 stands for heme -oxidized IRP2 ubiquitin ligase 1.
  • HOIL1 also RBCK1 gene.
  • RBCK1 gene encodes 1 of the components of the linear ubiquitin chain assembly complex(LUBAC)
  • RBCK1 gene is located on chromosome 20p13
  • Mutation in the RBCK1 leads to polyglucosan body myopathy.
  • Polyglucosan body myopathy is inherited as autosomal recessive disorder.[104]
  • Polyglucosan body myopathy-1 is characterized by progressive proximal muscle weakness in early childhood.[105]
  • Most patients with polyglucosan body myopathy-1 also develop progressive dilated cardiomyopathy.
  • Some patients with polyglucosan body myopathy also presents with severe immunodeficiency.

HOIP1 deficiency

  • HOIP stands for Hoil 1-Interacting Protein.
  • HOIP1 deficiency is caused by the mutation in RNF31 gene.
  • RNF31 gene is located chromosome 14q11.2.
  • HOIP deficincy is characterized by followings:[105]
    • Multiorgan autoinflammation
    • Combined immunodeficiency
    • Subclinical amylopectinosis
    • Systemic lymphangiectasia

Calcium Channel Defects (ORAI-1 deficiency)

  • ORAI1 is also known as calcium release-activated calcium modulator1 (CRAMC1).
  • ORAI1 gene is located on chromosome 12q24.
  • ORAI1 (CRAMC1) gene encodes a plasma membrane protein essential for pore-forming subunit of the Ca2+ release-activated calcium channels.
  • Mutation in the ORAI1 gene leads to primary immunodeficiency-9.[106]
  • Primary immunodeficiency-9 in inherited as an autosomal recessive disorder.
  • Common manifestations of calcium channel defects include followings:
    • Recurrent infections due to defective T-cell activation
    • Congenital myopathy
    • Muscle weakness
    • Ectodermal dysplasia including soft dental enamel
  • If the mutation in the ORAI1 gene is inherited as an autosomal dominant pattern it leads to tubular aggregate myopathy-2.[107]
  • Tubular aggregate myopathy-2 is characterized by muscle pain, cramping, or weakness that begins in childhood and worsens over time.[108]
  • Tubular aggregate myopathy-2 involves build up of proteins abnormally in both type I and type II muscle fibers and forms clumps of tube-like structures called tubular aggregates

STIM1 deficiency

  • STM1 stands for stromal interaction molecule 1.
  • STIM1 gene is located on chromosome 11p15.
  • STIM1 gene encode stromal interaction molecule 1
  • Stromal interaction molecule1 senses release of Ca2+ from endoplasmic reticulum and activates CRAC channels in the plasma membrane.
  • Mutation in the STIM1 gene leads to primary immunodeficiency-10.[109]
  • Immunodeficiency-10 is iherited as an autosomal recessive disorder.[110]
  • Immunodeficiency-10 is characterized by recurrent infections in childhood due to defective T- and NK-cell function.
  • Immunodeficiency-10 also have followigs:
    • Hypotonia
    • Hypohidrosis
    • Dental enamel hypoplasia consistent with amelogenesis imperfecta

Hennekam-lymphangiectasia-lymphedema syndrome 2

  • Hennekam lymphangiectasia-lymphedema syndrome-2 is caused by mutation in the FAT4 gene on chromosome 4q28.
  • Hennekam lymphangiectasia-lymphedema syndrome-2 is inherited as an autosomal recessive pattern.[111]
  • FAT4 gene encodes a protein which is a member of a large family of protocadherins.
  • Hennekam-lymphangiectasia-lymphedema syndrome 2 is characterized by followigs:
    • Generalized lymphatic dysplasia
    • Facial dysmorphism
    • Cognitive impairment.[111]

STAT5b deficiency

  • STAT5b deficiency also known as signal transducer and activator of transcription 5B.[112]
  • STAT5 proteins are components of the common growth hormone and interleukin-2 families of cytokines signaling pathway.
  • STAT family members are phosphorylated by the receptor associated kinases in response to cytokines and growth factors.
  • STAT proteins then form homo-or heterodimers that translocate to the cell nucleus where they act as transcription activators.[113]
  • Growth hormone insensitivity is caused by a mutation in the STAT5B gene which is required for normal signaling of the GH receptor.[114]
  • Growth hormone insensitivity includes the followings:
    • Severe growth failure
    • Elevated serum concentrations of GH
    • Clinical phenotype that identical to congenital GH deficiency.[115]

Kabuki Syndrome

  • Kabuki syndrome-1 (KABUK1) is caused by heterozygous mutation in the MLL2 gene (KMT2D).
  • MLL2 gene (KMT2D) encodes histone methyltransferase which methylates the Lys-4 position of histone H3.
  • It usually inherits as an autosomal dominant pattern.
  • Common manifestations of Kabuki syndrome include:[116][117][118]


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